Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline (Q57068342)

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25 April 2020

title

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society Clinical Practice Guideline (English)

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congenital adrenal hyperplasia

25 April 2020

main subject

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CORRIGENDUM FOR "Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline"

inferred from title

corrigendum / erratum

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author

Phyllis W Speiser

1

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25 April 2020

2

Wiebke Arlt

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25 April 2020

7

Heino F L Meyer-Bahlburg

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25 April 2020

5

Gerard S Conway

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25 April 2020

author name string

Richard J Auchus

3

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25 April 2020

Laurence S Baskin

4

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25 April 2020

Deborah P Merke

6

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25 April 2020

Walter L Miller

8

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25 April 2020

M Hassan Murad

9

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25 April 2020

Sharon E Oberfield

10

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25 April 2020

Perrin C White

11

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language of work or name

English

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publication date

1 November 2018

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The Journal of Clinical Endocrinology and Metabolism

25 April 2020

published in

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volume

103

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25 April 2020

page(s)

4043-4088

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25 April 2020

issue

11

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Microfilter paper method for 17 alpha-hydroxyprogesterone radioimmunoassay: its application for rapid screening for congenital adrenal hyperplasia

25 April 2020

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Screening for congenital adrenal hyperplasia: distribution of 17 alpha-hydroxyprogesterone concentrations in neonatal blood spot specimens

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Incidentally discovered adrenal masses

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Bone density in young patients with congenital adrenal hyperplasia.

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A preliminary study of flutamide, testolactone, and reduced hydrocortisone dose in the treatment of congenital adrenal hyperplasia.

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Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels.

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Total urogenital mobilization--an easier way to repair cloacas

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How safe is long-term prenatal glucocorticoid treatment?

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Non-classical 21-hydroxylase deficiency in infancy and childhood: the effect of time of initiation of therapy on puberty and final height

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Outcome of congenital adrenal hyperplasia.

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Current status of neonatal screening for congenital adrenal hyperplasia

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Bone mineral density in prepubertal and in adolescent and young adult patients with the salt-wasting form of congenital adrenal hyperplasia.

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Immature adrenal steroidogenesis in preterm infants

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Exhaustive screening of the 21-hydroxylase gene in a population of hyperandrogenic women

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The effects of glucocorticoid replacement therapy on growth, bone mineral density, and bone turnover markers in children with congenital adrenal hyperplasia

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Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.

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Benefits of neonatal screening for congenital adrenal hyperplasia (21-hydroxylase deficiency) in Sweden.

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Feminizing genitoplasty: state of the art.

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In utero programming of chronic disease

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Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

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Home monitoring of 17 hydroxyprogesterone levels in congenitx127drenal hyperplasia with filter paper blood samples

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Comparison of the low dose short synacthen test (1 microg), the conventional dose short synacthen test (250 microg), and the insulin tolerance test for assessment of the hypothalamo-pituitary-adrenal axis in patients with pituitary disease

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12 December 2020

Comparison of the Low Dose Short Synacthen Test (1 g), the Conventional Dose Short Synacthen Test (250 g), and the Insulin Tolerance Test for Assessment of the Hypothalamo-Pituitary-Adrenal Axis in Patients with Pituitary Disease

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12 December 2020

Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Genotyping of CYP21, linked chromosome 6p markers, and a sex-specific gene in neonatal screening for congenital adrenal hyperplasia

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Modular variations of the human major histocompatibility complex class III genes for serine/threonine kinase RP, complement component C4, steroid 21-hydroxylase CYP21, and tenascin TNX (the RCCX module). A mechanism for gene deletions and disease as

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Genotyping is a valuable diagnostic complement to neonatal screening for congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency

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Screening for 21-hydroxylase-deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study

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Effect of newborn screening for congenital adrenal hyperplasia

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Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice

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Pituitary gonadal axis and child rate in males with classical 21-hydroxylase deficiency

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Long-term outcome of classical 21-hydroxylase deficiency: diagnosis, complications and quality of life

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Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany

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Flutamide, testolactone, and reduced hydrocortisone dose maintain normal growth velocity and bone maturation despite elevated androgen levels in children with congenital adrenal hyperplasia.

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Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Adrenocortical carcinoma associated with adrenogenital syndrome in a child

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CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region

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Dexamethasone treatment of virilizing congenital adrenal hyperplasia: the ability to achieve normal growth

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Adrenomedullary dysplasia and hypofunction in patients with classic 21-hydroxylase deficiency

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Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Hydrocortisone suspension and hydrocortisone tablets are not bioequivalent in the treatment of children with congenital adrenal hyperplasia

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Growth hormone therapy alone or in combination with gonadotropin-releasing hormone analog therapy to improve the height deficit in children with congenital adrenal hyperplasia

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Newborn screening for congenital adrenal hyperplasia

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: alterations in cortisol pharmacokinetics at puberty.

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Long term outcome in adult males with classic congenital adrenal hyperplasia

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Antenatal corticosteroids and newborn screening for congenital adrenal hyperplasia

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Newborn screening for congenital adrenal hyperplasia in the Netherlands

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Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies

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High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia

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Using real-time, quantitative PCR for rapid genotyping of the steroid 21-hydroxylase gene in a north Florida population

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Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value

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Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glucose elevation in response to high-intensity exercise

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Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Congenital adrenal hyperplasia: transitional care

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Asymptomatic testicular adrenal rest tumours in adolescent and adult males with congenital adrenal hyperplasia: basal and follow-up investigation after 2.6 years

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Congenital adrenal hyperplasia - how to improve the transition from adolescence to adult life

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Stress dose of hydrocortisone is not beneficial in patients with classic congenital adrenal hyperplasia undergoing short-term, high-intensity exercise

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Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.

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Effect of single and multiple courses of prenatal corticosteroids on 17-hydroxyprogesterone levels: implication for neonatal screening of congenital adrenal hyperplasia

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MEDICAL TREATMENT OF INTERSEX: PARENTAL PERSPECTIVES

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Prenatal glucocorticoids and long-term programming

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Neonatal screening for congenital adrenal hyperplasia

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Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency

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Cutoff levels of 17-alpha-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight

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Treatment with growth hormone and luteinizing hormone releasing hormone analog improves final adult height in children with congenital adrenal hyperplasia.

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Cardiovascular risk factors after antenatal exposure to betamethasone: 30-year follow-up of a randomised controlled trial

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Upper and lower urinary tract outcome after surgical repair of cloacal malformations: a three-decade experience

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Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia

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Newborn screening for congenital adrenal hyperplasia has reduced sensitivity in girls.

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Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

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Outcome of bilateral adrenalectomy in congenital adrenal hyperplasia: one unit's experience

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Automated, fast and sensitive quantification of 17 alpha-hydroxy-progesterone, androstenedione and testosterone by tandem mass spectrometry with on-line extraction

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In humans, early cortisol biosynthesis provides a mechanism to safeguard female sexual development

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Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Comprehensive cost-utility analysis of newborn screening strategies

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Circadian hydrocortisone infusions in patients with adrenal insufficiency and congenital adrenal hyperplasia

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Reproductive outcome of women with 21-hydroxylase-deficient nonclassic adrenal hyperplasia.

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Gender development in women with congenital adrenal hyperplasia as a function of disorder severity.

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Prevalence of congenital adrenal hyperplasia among sudden infant death in the Czech Republic and Austria

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Metabolic profile and body composition in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Aldosterone-to-renin ratio as a marker for disease severity in 21-hydroxylase deficiency congenital adrenal hyperplasia

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Use of the mobilized sinus with total urogenital mobilization.

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Testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia: evaluation of pituitary-gonadal function before and after successful testis-sparing surgery in eight patients.

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Quality of life in 70 women with disorders of sex development.

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Cognitive functions in children at risk for congenital adrenal hyperplasia treated prenatally with dexamethasone

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How many deaths can be prevented by newborn screening for congenital adrenal hyperplasia?

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Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty.

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Evaluation of effects of an oral contraceptive containing ethinylestradiol combined with drospirenone on adrenal steroidogenesis in hyperandrogenic women with polycystic ovary syndrome

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Newborn screening for congenital adrenal hyperplasia: additional steroid profile using liquid chromatography-tandem mass spectrometry

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Patients with classic congenital adrenal hyperplasia have decreased epinephrine reserve and defective glycemic control during prolonged moderate-intensity exercise

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The role of 21-hydroxylase in the pathogenesis of adrenal masses: review of the literature and focus on our own experience

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Fractures and bone mineral density in adult women with 21-hydroxylase deficiency

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Long-Term Outcomes after Repeat Doses of Antenatal Corticosteroids

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Testicular adrenal rest tumors and Leydig and Sertoli cell function in boys with classical congenital adrenal hyperplasia

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Type of Mutation and Surgical Procedure Affect Long-Term Quality of Life for Women with Congenital Adrenal Hyperplasia

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Maternal corticosteroid use and orofacial clefts

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Sexual function and genital sensitivity following feminizing genitoplasty for congenital adrenal hyperplasia.

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Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess

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Congenital adrenal hyperplasia: adolescence and transition

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Impact of total cumulative glucocorticoid dose on bone mineral density in patients with 21-hydroxylase deficiency

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Neonatal screening for congenital adrenal hyperplasia: experience and results in Argentina

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Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Long-term follow-up of prenatally treated children at risk for congenital adrenal hyperplasia: does dexamethasone cause behavioural problems?

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3-dimensional neuroanatomy of the human fetal pelvis: anatomical support for partial urogenital mobilization in the treatment of urogenital sinus

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Control of childhood congenital adrenal hyperplasia and sleep activity and quality with morning or evening glucocorticoid therapy

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Perineal mobilization of the common urogenital sinus for surgical correction of high urethrovaginal confluence in patients with intersex disorders

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Does an altered leptin axis play a role in obesity among children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency?

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Two-year pilot study of newborn screening for congenital adrenal hyperplasia in New South Wales compared with nationwide case surveillance in Australia

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The cost effectiveness of screening newborns for congenital adrenal hyperplasia

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Antenatal steroid therapy for fetal lung maturation: is there an association with childhood asthma?

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Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members

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Modified-release hydrocortisone to provide circadian cortisol profiles

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Reassessing fecundity in women with classical congenital adrenal hyperplasia (CAH): normal pregnancy rate but reduced fertility rate

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High prevalence of reduced fecundity in men with congenital adrenal hyperplasia

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Precocious pubarche: distinguishing late-onset congenital adrenal hyperplasia from premature adrenarche.

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Low renal mineralocorticoid receptor expression at birth contributes to partial aldosterone resistance in neonates

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A pharmacokinetic and pharmacodynamic study of delayed- and extended-release hydrocortisone (Chronocort) vs. conventional hydrocortisone (Cortef) in the treatment of congenital adrenal hyperplasia

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Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material.

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Gender role behavior, sexuality, and psychosocial adaptation in women with congenital adrenal hyperplasia due to CYP21A2 deficiency.

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Management of altered hydrocortisone pharmacokinetics in a boy with congenital adrenal hyperplasia using a continuous subcutaneous hydrocortisone infusion.

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Patterns of gender development

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Effect of prenatal glucocorticoid treatment on size at birth among infants born at term gestation

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Hydrocortisone dosing during puberty in patients with classical congenital adrenal hyperplasia: an evidence-based recommendation.

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Neonatal screening for congenital adrenal hyperplasia

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Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in croatia between 1995 and 2006.

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Molecular analysis of CYP21A2 can optimize the follow-up of positive results in newborn screening for congenital adrenal hyperplasia

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Fertility in women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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Prenatal dexamethasone programs expression of genes in liver and adipose tissue and increased hepatic lipid accumulation but not obesity on a high-fat diet

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Maternal prenatal cortisol and infant cognitive development: moderation by infant-mother attachment

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Subtle cognitive impairments in patients with long-term cure of Cushing's disease.

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Ovarian adrenal rest tumor in a congenital adrenal hyperplasia patient with adrenocorticotropin hypersecretion following adrenalectomy

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Holistic management of DSD.

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Prenatal dexamethasone use for the prevention of virilization in pregnancies at risk for classical congenital adrenal hyperplasia because of 21-hydroxylase (CYP21A2) deficiency: a systematic review and meta-analyses.

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Glucocorticoids, prenatal stress and the programming of disease

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Pilot proficiency testing study for second tier congenital adrenal hyperplasia newborn screening

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Increased prevalence of psychopathology and maladaptive personality traits after long-term cure of Cushing's disease

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Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients

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Should male gender assignment be considered in the markedly virilized patient With 46,XX and congenital adrenal hyperplasia?

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Clinical review: Adult height in patients with congenital adrenal hyperplasia: a systematic review and metaanalysis

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Zona fasciculata 21-hydroxysteroids and precursor-to-product ratios in 21-hydroxylase deficiency: further characterization of classic and non-classic patients and heterozygote carriers

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12 December 2020

Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

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12 December 2020

Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency.

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GRADE guidelines: 1. Introduction-GRADE evidence profiles and summary of findings tables

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Guidelines for the Development of Comprehensive Care Centers for Congenital Adrenal Hyperplasia: Guidance from the CARES Foundation Initiative

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Gender role behaviour in prenatally dexamethasone-treated children at risk for congenital adrenal hyperplasia--a pilot study.

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Sexual function and attitudes toward surgery after feminizing genitoplasty.

1 reference

12 December 2020

Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families

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Abiraterone and increased survival in metastatic prostate cancer

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Exogenous glucocorticoids and adverse cerebral effects in children

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High frequency of adrenal myelolipomas and testicular adrenal rest tumours in adult Norwegian patients with classical congenital adrenal hyperplasia because of 21-hydroxylase deficiency

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Clitoroplasty in congenital adrenal hyperplasia: description of technique

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12 December 2020

Genitoplasty/Vaginoplasty

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Nongenomic glucocorticoid receptor action regulates gap junction intercellular communication and neural progenitor cell proliferation

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Gender monitoring and gender reassignment of children and adolescents with a somatic disorder of sex development.

1 reference

12 December 2020

Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

1 reference

12 December 2020

Verbal and visual memory performance and hippocampal volumes, measured by 3-Tesla magnetic resonance imaging, in patients with Cushing's syndrome.

1 reference

12 December 2020

Increased activation of the alternative "backdoor" pathway in patients with 21-hydroxylase deficiency: evidence from urinary steroid hormone analysis

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12 December 2020

Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): an update

1 reference

12 December 2020

Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance

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12 December 2020

Incidence and clinical features of congenital adrenal hyperplasia in Great Britain

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12 December 2020

Surgical treatment of high urogenital sinuses using the anterior sagittal transrectal approach: a useful strategy to optimize exposure and outcomes.

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12 December 2020

Physical, social and societal functioning of children with congenital adrenal hyperplasia (CAH) and their parents, in a Dutch population.

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12 December 2020

Efficiency of neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency in children born in mainland France between 1996 and 2003.

1 reference

12 December 2020

Prenatal dexamethasone treatment of children at risk for congenital adrenal hyperplasia: the Swedish experience and standpoint

1 reference

12 December 2020

Neonatal screening: identification of children with 11β-hydroxylase deficiency by second-tier testing

1 reference

12 December 2020

Antenatal glucocorticoid exposure and long-term alterations in aortic function and glucose metabolism.

1 reference

12 December 2020

Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency

1 reference

12 December 2020

Cognitive outcome of offspring from dexamethasone-treated pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency

1 reference

12 December 2020

Transgenerational effects of prenatal synthetic glucocorticoids on hypothalamic-pituitary-adrenal function

1 reference

12 December 2020

Prenatal synthetic glucocorticoid treatment changes DNA methylation states in male organ systems: multigenerational effects

1 reference

12 December 2020

Long-term cognitive impairments and attentional deficits in patients with Cushing's disease and cortisol-producing adrenal adenoma in remission.

1 reference

12 December 2020

Dexamethasone induces germ cell apoptosis in the human fetal ovary

1 reference

12 December 2020

Impact of antenatal synthetic glucocorticoid exposure on endocrine stress reactivity in term-born children.

1 reference

12 December 2020

Use of PET/CT with cosyntropin stimulation to identify and localize adrenal rest tissue following adrenalectomy in a woman with congenital adrenal hyperplasia

1 reference

12 December 2020

Impaired quality of life in patients in long-term remission of Cushing's syndrome of both adrenal and pituitary origin: a remaining effect of long-standing hypercortisolism?

1 reference

12 December 2020

Reverse-hybridization assay for rapid detection of common CYP21A2 mutations in dried blood spots from newborns with elevated 17-OH progesterone.

1 reference

12 December 2020

Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia

1 reference

12 December 2020

What is the best approach to the teenage patient presenting with nonclassical congenital adrenal hyperplasia: should we always treat with glucocorticoids?

1 reference

12 December 2020

Ethnic and gender differences in rates of congenital adrenal hyperplasia in Western Australia over a 21 year period

1 reference

12 December 2020

Antenatal Glucocorticoid Treatment: Are We Doing Harm to Term Babies?

1 reference

12 December 2020

An update on prenatal diagnosis and treatment of congenital adrenal hyperplasia

1 reference

12 December 2020

Comparison of one-tier and two-tier newborn screening metrics for congenital adrenal hyperplasia

1 reference

12 December 2020

Prenatal treatment of congenital adrenal hyperplasia: risks outweigh benefits

1 reference

12 December 2020

Cognitive and social function in girls with congenital adrenal hyperplasia -- influence of prenatally administered dexamethasone.

1 reference

12 December 2020

Severity of virilization is associated with cosmetic appearance and sexual function in women with congenital adrenal hyperplasia: a cross-sectional study

1 reference

12 December 2020

Chronic glucocorticoid exposure potentiates placental chorionic plate artery constriction: implications for aberrant fetoplacental vascular resistance in fetal growth restriction.

1 reference

12 December 2020

Glucocorticoid programming of the fetal male hippocampal epigenome.

1 reference

12 December 2020

Congenital adrenal hyperplasia and the second newborn screen

1 reference

12 December 2020

Newborn screening for congenital adrenal hyperplasia in Cuba: six years of experience

1 reference

12 December 2020

Quality of life in adults with congenital adrenal hyperplasia relates to glucocorticoid treatment, adiposity and insulin resistance: United Kingdom Congenital adrenal Hyperplasia Adult Study Executive (CaHASE).

1 reference

12 December 2020

Potential risks of pharmacy compounding

1 reference

12 December 2020

Abiraterone in metastatic prostate cancer.

1 reference

12 December 2020

Current practice in feminizing surgery for congenital adrenal hyperplasia; a specialist survey.

1 reference

12 December 2020

Acute encephalopathy with unilateral cortical-subcortical lesions in two unrelated kindreds treated with glucocorticoids prenatally for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: established facts and novel insight.

1 reference

12 December 2020

Approach to the patient: the adult with congenital adrenal hyperplasia

1 reference

12 December 2020

Cortisol response to operative stress with anesthesia in healthy children

1 reference

12 December 2020

Prenatal treatment of mothers with fetuses at risk for congenital adrenal hyperplasia: How relevant is it to Indian context?

1 reference

12 December 2020

Dexamethasone inhibits the maturation of newly formed neurons and glia supplemented with polyunsaturated fatty acids

1 reference

12 December 2020

Sexual function in adult life following Passerini-Glazel feminizing genitoplasty in patients with congenital adrenal hyperplasia

1 reference

12 December 2020

Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency

1 reference

12 December 2020

Early-life glucocorticoid exposure: the hypothalamic-pituitary-adrenal axis, placental function, and long-term disease risk

1 reference

12 December 2020

Steroid profiling for congenital adrenal hyperplasia by tandem mass spectrometry as a second-tier test reduces follow-up burdens in a tertiary care hospital: a retrospective and prospective evaluation

1 reference

12 December 2020

Gender eugenics? The ethics of PGD for intersex conditions

1 reference

12 December 2020

Effects of antenatal synthetic glucocorticoid on glucocorticoid receptor binding, DNA methylation, and genome-wide mRNA levels in the fetal male hippocampus.

1 reference

12 December 2020

No evidence of an increase in early infant mortality from congenital adrenal hyperplasia in the absence of screening.

1 reference

12 December 2020

Role of pediatric urologist in the treatment of congenital adrenal hyperplasia: a study of satisfaction and psychosocial aspects

1 reference

12 December 2020

Prenatal glucocorticoid treatment and later mental health in children and adolescents

1 reference

12 December 2020

Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

1 reference

12 December 2020

Long-term evaluation of patients undergoing genitoplasty due to disorders of sex development: results from a 14-year follow-up.

1 reference

12 December 2020

The Surgical Correction of Urogenital Sinus in Patients with DSD: 15 Years after Description of Total Urogenital Mobilization in Children

1 reference

12 December 2020

Screening for gestational diabetes mellitus: U.S. Preventive Services Task Force recommendation statement

1 reference

12 December 2020

New management strategy of pregnancies at risk of congenital adrenal hyperplasia using fetal sex determination in maternal serum: French cohort of 258 cases (2002-2011).

1 reference

12 December 2020

Suboptimal psychosocial outcomes in patients with congenital adrenal hyperplasia: epidemiological studies in a nonbiased national cohort in Sweden.

1 reference

12 December 2020

A-ring modified steroidal azoles retaining similar potent and slowly reversible CYP17A1 inhibition as abiraterone.

1 reference

12 December 2020

A three-year follow-up of congenital adrenal hyperplasia newborn screening

1 reference

12 December 2020

Comparison of newborn screening protocols for congenital adrenal hyperplasia in preterm infants

1 reference

12 December 2020

Adrenal steroidogenesis following prenatal dexamethasone exposure in the spiny mouse.

1 reference

12 December 2020

Noninvasive prenatal diagnosis of congenital adrenal hyperplasia using cell-free fetal DNA in maternal plasma

1 reference

12 December 2020

One hundred years of congenital adrenal hyperplasia in Sweden: a retrospective, population-based cohort study

1 reference

12 December 2020

Management of adolescents with congenital adrenal hyperplasia

1 reference

12 December 2020

Morpho-functional characteristics of rat fetal thyroid gland are affected by prenatal dexamethasone exposure.

1 reference

12 December 2020

Late prenatal dexamethasone and phenotype variations in 46,XX CAH: concerns about current protocols and benefits for surgical procedures.

1 reference

12 December 2020

Nationwide neonatal screening for congenital adrenal hyperplasia in sweden: a 26-year longitudinal prospective population-based study

1 reference

12 December 2020

Abiraterone acetate to lower androgens in women with classic 21-hydroxylase deficiency

1 reference

12 December 2020

Results from 28 years of newborn screening for congenital adrenal hyperplasia in sapporo

1 reference

12 December 2020

Blood pressure, fludrocortisone dose and plasma renin activity in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency followed from birth to 4 years of age.

1 reference

12 December 2020

Glucocorticoids and fetal programming part 1: Outcomes

1 reference

12 December 2020

Decreased adrenomedullary function in infants with classical congenital adrenal hyperplasia

1 reference

12 December 2020

Patient advocate responds to DSD surgery debate.

1 reference

12 December 2020

Expanding the comprehensive national neonatal screening programme in the United Arab Emirates from 1995 to 2011.

1 reference

12 December 2020

Small cerebellar cortex volume in patients with active Cushing's syndrome.

1 reference

12 December 2020

Reconstructive surgery for females with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a review from the Prince of Wales Hospital

1 reference

12 December 2020

Performance enhancement in the measurement of 5 endogenous steroids by LC-MS/MS combined with differential ion mobility spectrometry.

1 reference

12 December 2020

1 reference

12 December 2020

Increased prevalence of testicular adrenal rest tumours during adolescence in congenital adrenal hyperplasia

1 reference

12 December 2020

Increased Cross-Gender Identification Independent of Gender Role Behavior in Girls with Congenital Adrenal Hyperplasia: Results from a Standardized Assessment of 4- to 11-Year-Old Children.

1 reference

12 December 2020

Improving the communication of healthcare professionals with affected children and adolescents

1 reference

12 December 2020

Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

1 reference

12 December 2020

Salivary morning androstenedione and 17α-OH progesterone levels in childhood and puberty in patients with classic congenital adrenal hyperplasia

1 reference

12 December 2020

Variation in absorption and half-life of hydrocortisone influence plasma cortisol concentrations.

1 reference

12 December 2020

Ten-year evaluation of a Neonatal Screening Program for congenital adrenal hyperplasia

1 reference

12 December 2020

Comparison of cortisol exposures and pharmacodynamic adrenal steroid responses to hydrocortisone suspension vs. commercial tablets

1 reference

12 December 2020

Mitotane for 21-hydroxylase deficiency in an infertile man

1 reference

12 December 2020

A phase 2 study of Chronocort, a modified-release formulation of hydrocortisone, in the treatment of adults with classic congenital adrenal hyperplasia

1 reference

12 December 2020

Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994-2013.

1 reference

12 December 2020

Working memory performance is reduced in children with congenital adrenal hyperplasia

1 reference

12 December 2020

Content and format of labeling for human prescription drug and biological products; requirements for pregnancy and lactation labeling. Final rule.

1 reference

12 December 2020

MECHANISMS IN ENDOCRINOLOGY: Cushing's syndrome causes irreversible effects on the human brain: a systematic review of structural and functional magnetic resonance imaging studies

1 reference

12 December 2020

Guideline panels should not GRADE good practice statements

1 reference

12 December 2020

Inadequate cortisol response to the tetracosactide (Synacthen®) test in non-classic congenital adrenal hyperplasia: an exception to the rule?

1 reference

12 December 2020

Early androgen exposure and human gender development

1 reference

12 December 2020

Minireview: the impact of antenatal therapeutic synthetic glucocorticoids on the developing fetal brain

1 reference

12 December 2020

Therapy monitoring in congenital adrenal hyperplasia by dried blood samples

1 reference

12 December 2020

Congenital adrenal hyperplasia: current surgical management at academic medical centers in the United States.

1 reference

12 December 2020

Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey

1 reference

12 December 2020

New directions for the treatment of adrenal insufficiency

1 reference

12 December 2020

Ethics, genetics and public policies in Uruguay: newborn and infant screening as a paradigm

1 reference

12 December 2020

Cognition and Brain Structure Following Early Childhood Surgery With Anesthesia

1 reference

12 December 2020

Blood Pressure in a Large Cohort of Children and Adolescents With Classic Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency

1 reference

12 December 2020

Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome

1 reference

12 December 2020

Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase-Deficiency: 13 Years of Neonatal Screening and Follow-up in Bavaria

1 reference

12 December 2020

Effects of two contraceptives containing drospirenone on blood pressure in normotensive women: a randomized-controlled trial

1 reference

12 December 2020

Congenital adrenal hyperplasia and risk for psychiatric disorders in girls and women born between 1915 and 2010: A total population study

1 reference

12 December 2020

Current and future perspective of newborn screening: an Indian scenario

1 reference

12 December 2020

The status of neonatal screening in China, 2013.

1 reference

12 December 2020

Congenital adrenal hyperplasia cases identified by newborn screening in one- and two-screen states

1 reference

12 December 2020

Mitotane Inhibits Sterol-O-Acyl Transferase 1 Triggering Lipid-Mediated Endoplasmic Reticulum Stress and Apoptosis in Adrenocortical Carcinoma Cells

1 reference

12 December 2020

Hormonal circadian rhythms in patients with congenital adrenal hyperplasia: identifying optimal monitoring times and novel disease biomarkers

1 reference

12 December 2020

Male gender identity in children with 46,XX DSD with congenital adrenal hyperplasia after delayed presentation in mid-childhood.

1 reference

12 December 2020

Parental choice on normalising cosmetic genital surgery.

1 reference

12 December 2020

Diagnosis of 21-hydroxylase deficiency by urinary metabolite ratios using gas chromatography-mass spectrometry analysis: Reference values for neonates and infants

1 reference

12 December 2020

Children with classic congenital adrenal hyperplasia experience salt loss and hypoglycemia: evaluation of adrenal crises during the first 6 years of life

1 reference

12 December 2020

Should we question early feminizing genitoplasty for patients with congenital adrenal hyperplasia and XX karyotype?

1 reference

12 December 2020

Timing and Outcome Concerns regarding Feminizing Genitoplasty from the Perspective of Egyptian Families of Girls with Virilized External Genitalia.

1 reference

12 December 2020

Experience in optimizing fertility outcomes in men with congenital adrenal hyperplasia due to 21 hydroxylase deficiency

1 reference

12 December 2020

Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study

1 reference

12 December 2020

Reduced short term memory in congenital adrenal hyperplasia (CAH) and its relationship to spatial and quantitative performance

1 reference

12 December 2020

Gender Assignment, Reassignment and Outcome in Disorders of Sex Development: Update of the 2005 Consensus Conference

1 reference

12 December 2020

Single-Dose Study of a Corticotropin-Releasing Factor Receptor-1 Antagonist in Women With 21-Hydroxylase Deficiency.

1 reference

12 December 2020

Diagnosis and Treatment of Primary Adrenal Insufficiency: An Endocrine Society Clinical Practice Guideline

1 reference

12 December 2020

Prenatal androgen exposure alters girls' responses to information indicating gender-appropriate behaviour.

1 reference

12 December 2020

From Knowing Nothing to Knowing What, How and Now: Parents' Experiences of Caring for their Children With Congenital Adrenal Hyperplasia.

1 reference

12 December 2020

ATR-101 disrupts mitochondrial functions in adrenocortical carcinoma cells and in vivo

1 reference

12 December 2020

Sperm retrieval and concomitant tumor resection in azoospermic men with congenital adrenal hyperplasia and bilateral testicular adrenal rest tumors: a case report

1 reference

12 December 2020

Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency

1 reference

12 December 2020

Linking Prenatal Androgens to Gender-Related Attitudes, Identity, and Activities: Evidence From Girls With Congenital Adrenal Hyperplasia.

1 reference

12 December 2020

ATR-101, a Selective and Potent Inhibitor of Acyl-CoA Acyltransferase 1, Induces Apoptosis in H295R Adrenocortical Cells and in the Adrenal Cortex of Dogs

1 reference

12 December 2020

Preimplantation diagnosis and other modern methods for prenatal diagnosis

1 reference

12 December 2020

Long-term glucocorticoid effect on bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

1 reference

12 December 2020

Stigma in Medical Settings As Reported Retrospectively by Women With Congenital Adrenal Hyperplasia (CAH) for Their Childhood and Adolescence.

1 reference

12 December 2020

Association Between a Single General Anesthesia Exposure Before Age 36 Months and Neurocognitive Outcomes in Later Childhood

1 reference

12 December 2020

Still ignoring human rights in intersex care

1 reference

12 December 2020

Establishment of revised diagnostic cut-offs for adrenal laboratory investigation using the new Roche Diagnostics Elecsys® Cortisol II assay.

1 reference

12 December 2020

Sex-Dimorphic Effects of Prenatal Treatment With Dexamethasone.

1 reference

12 December 2020

1 reference

12 December 2020

A Phase 2 Study of Continuous Subcutaneous Hydrocortisone Infusion in Adults With Congenital Adrenal Hyperplasia.

1 reference

12 December 2020

Antenatal Dexamethasone Exposure in Preterm Infants Is Associated with Allergic Diseases and the Mental Development Index in Children.

1 reference

12 December 2020

Urinary continence outcomes following vaginoplasty in patients with congenital adrenal hyperplasia

1 reference

12 December 2020

Neonatal 17-hydroxyprogesterone levels adjusted according to age at sample collection and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening.

1 reference

12 December 2020

Ovarian Adrenal Rest Tumors Undetected by Imaging Studies and Identified at Surgery in Three Females with Congenital Adrenal Hyperplasia Unresponsive to Increased Hormone Therapy Dosage.

1 reference

12 December 2020

Prenatal Dexamethasone Exposure Increases the Susceptibility to Autoimmunity in Offspring Rats by Epigenetic Programing of Glucocorticoid Receptor

1 reference

12 December 2020

Neonatal screening for congenital adrenal hyperplasia in Southern Brazil: a population based study with 108,409 infants.

1 reference

12 December 2020

Age-Dependent Effects of Prenatal Dexamethasone Exposure on Immune Responses in Male Rats.

1 reference

12 December 2020

Experts' Opinion on the Prenatal Therapy of Congenital Adrenal Hyperplasia (CAH) Due to 21-Hydroxylase Deficiency - Guideline of DGKED in cooperation with DGGG (S1-Level, AWMF Registry No. 174/013, July 2015).

1 reference

12 December 2020

11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency.

1 reference

12 December 2020

Quality of compounded hydrocortisone capsules used in the treatment of children

1 reference

12 December 2020

Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians.

1 reference

12 December 2020

Interdisciplinary care in disorders/differences of sex development (DSD): The psychosocial component of the DSD-Translational research network.

1 reference

12 December 2020

Challenges in educating patients and parents about differences in sex development.

1 reference

12 December 2020

Pregnancy in women with nonclassic congenital adrenal hyperplasia: Time to conceive and outcome.

1 reference

12 December 2020

Absorption and tolerability of taste-masked hydrocortisone granules in neonates, infants and children under 6 years of age with adrenal insufficiency.

1 reference

12 December 2020

Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature

1 reference

12 December 2020

Reduced Frequency of Biological and Increased Frequency of Adopted Children in Males With 21-Hydroxylase Deficiency: A Swedish Population-Based National Cohort Study.

1 reference

12 December 2020

Iatrogenic Cushing Syndrome in a Child With Congenital Adrenal Hyperplasia: Erroneous Compounding of Hydrocortisone.

1 reference

12 December 2020

CYP21A2 mutation update: Comprehensive analysis of databases and published genetic variants.

1 reference

12 December 2020

Sodium Chloride Supplementation Is Not Routinely Performed in the Majority of German and Austrian Infants with Classic Salt-Wasting Congenital Adrenal Hyperplasia and Has No Effect on Linear Growth and Hydrocortisone or Fludrocortisone Dose.

1 reference

12 December 2020

Dealing with treatment and transfer requests: how PGD-professionals discuss ethical challenges arising in everyday practice.

1 reference

12 December 2020

Quantitative MRI brain in congenital adrenal hyperplasia: in vivo assessment of the cognitive and structural impact of steroid hormones.

1 reference

12 December 2020

Parental decisional regret and views about optimal timing of female genital restoration surgery in congenital adrenal hyperplasia.

1 reference

12 December 2020

Poor compliance and increased mortality, depression and healthcare costs in patients with congenital adrenal hyperplasia.

1 reference

12 December 2020

Modeling Congenital Adrenal Hyperplasia and Testing Interventions for Adrenal Insufficiency Using Donor-Specific Reprogrammed Cells.

1 reference

12 December 2020

Characteristics of Female Genital Restoration Surgery for Congenital Adrenal Hyperplasia Using a Large-scale Administrative Database

1 reference

12 December 2020

Evaluation and Treatment of Hirsutism in Premenopausal Women: An Endocrine Society Clinical Practice Guideline.

1 reference

12 December 2020

Longitudinal Assessment of Illnesses, Stress Dosing, and Illness Sequelae in Patients With Congenital Adrenal Hyperplasia

1 reference

12 December 2020

Tenascin-X, Congenital Adrenal Hyperplasia, and the CAH-X Syndrome

1 reference

12 December 2020

Cardiovascular and Metabolic Outcomes in Congenital Adrenal Hyperplasia: A Systematic Review and Meta-analysis

1 reference

12 December 2020

Genital Reconstructive Surgery in Females with Congenital Adrenal Hyperplasia: A Systematic Review and Meta-analysis

1 reference

12 December 2020

Identifiers

DOI

10.1210/JC.2018-01865

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30272171%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:30272171%20AND%20SRC:MED&resulttype=core&format=json

25 April 2020

1 reference