Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency (Q24631570)

lipoid congenital adrenal hyperplasia

inferred from title

1 reference

7

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Gudrun Nürnberg

6

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Danielle Naville

Danielle Naville

2

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John C. Achermann

John C Achermann

14

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Nils Krone

Nils P Krone

10

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Wiebke Arlt

Wiebke Arlt

15

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Jeremy W Tomlinson

Jeremy W Tomlinson

9

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Adrian J. L. Clark

16

Adrian J L Clark

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Lou Metherell

1

Louise A Metherell

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author name string

George Halaby

3

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Martine Begeot

4

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Angela Huebner

5

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Jane Green

8

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Lin Lin

11

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Michael Racine

12

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Dan M Berney

The Journal of Clinical Endocrinology and Metabolism

13

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language of work or name

English

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publication date

October 2009

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published in

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volume

94

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page(s)

3865-71

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issue

10

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cites work

Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia

1 reference

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Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene

7 April 2017

1 reference

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Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

7 April 2017

1 reference

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Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

7 April 2017

1 reference

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Adrenocorticotropin resistance syndromes

7 April 2017

1 reference

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Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

27 September 2017

1 reference

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Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years' experience

27 September 2017

1 reference

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Phenotypic features associated with mutations in steroidogenic acute regulatory protein.

27 September 2017

1 reference

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Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita

27 September 2017

1 reference

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Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory protein

27 September 2017

1 reference

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Molecular pathology and mechanism of action of the steroidogenic acute regulatory protein, StAR.

27 September 2017

1 reference

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Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein

27 September 2017

1 reference

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Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene

27 September 2017

1 reference

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Mitochondrial specificity of the early steps in steroidogenesis

27 September 2017

1 reference

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A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings

27 September 2017

1 reference

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A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia.

30 May 2018

1 reference

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A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population

30 May 2018

1 reference

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A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia

28 November 2018

1 reference

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Molecular genetic analysis of congenital lipoid adrenal hyperplasia

28 November 2018

1 reference

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Testicular histopathology in congenital lipoid adrenal hyperplasia: a light and electron microscopic study

28 November 2018

1 reference

12 December 2020

Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia

1 reference

12 December 2020

Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia

1 reference

12 December 2020

Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity

1 reference

12 December 2020