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

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Language	Label	Description	Also known as
English	Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency	scientific article

Statements

instance of

scholarly article

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title

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

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main subject

clinical chemistry

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glucocorticoid

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congenital disorder

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congenital adrenal hyperplasia

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based on heuristic

inferred from title

lipoid congenital adrenal hyperplasia

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based on heuristic

inferred from title

author

Peter Nürnberg

series ordinal

7

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Gudrun Nürnberg

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6

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Danielle Naville

object named as

Danielle Naville

series ordinal

2

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John C. Achermann

object named as

John C Achermann

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14

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Nils Krone

object named as

Nils P Krone

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10

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Wiebke Arlt

object named as

Wiebke Arlt

series ordinal

15

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Jeremy W Tomlinson

object named as

Jeremy W Tomlinson

series ordinal

9

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Adrian J. L. Clark

series ordinal

16

object named as

Adrian J L Clark

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Lou Metherell

series ordinal

1

object named as

Louise A Metherell

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author name string

George Halaby

series ordinal

3

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Martine Begeot

series ordinal

4

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Angela Huebner

series ordinal

5

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Jane Green

series ordinal

8

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Lin Lin

series ordinal

11

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Michael Racine

series ordinal

12

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Dan M Berney

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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

The Journal of Clinical Endocrinology and Metabolism

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volume

94

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issue

10

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page(s)

3865-71

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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

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

7 April 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

7 April 2017

Familial glucocorticoid deficiency associated with point mutation in the adrenocorticotropin receptor

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

7 April 2017

Adrenocorticotropin resistance syndromes

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

27 September 2017

Phenotypic features associated with mutations in steroidogenic acute regulatory protein.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

27 September 2017

Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

27 September 2017

Mitochondrial specificity of the early steps in steroidogenesis

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

27 September 2017

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

30 May 2018

A Novel Splicing Junction Mutation in the Gene for the Steroidogenic Acute Regulatory Protein Causes Congenital Lipoid Adrenal Hyperplasia1

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

30 May 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

28 November 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

28 November 2018

Molecular genetic analysis of congenital lipoid adrenal hyperplasia

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2860769

retrieved

28 November 2018

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19773404

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19773404

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19773404

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/19773404

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1210/JC.2009-0467

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PMC publication ID

2860769

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PubMed publication ID

19773404

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