FAQ

Congenital adrenal hyperplasia

Known as: Adrenogenital Syndrome, Congenital Adrenal Gland Hyperplasia, Adrenal Hyperplasia, Congenital 
A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE… (More)

Topic mentions per year

Topic mentions per year

1944-2017
010020019442016

Related topics

Related topics

38 relations

Narrower (4)

3 beta-Hydroxysteroid dehydrogenase deficiencyAdrenal hyperplasia 2Congenital adrenal hyperplasia due to 21 hydroxylase deficiencyLipoid congenital adrenal hyperplasia
Abdominal CavityAdrenal GlandsAdrenal Rest TumorAdrenal hyperplasia
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Broader (3)

Adrenal Gland DiseasesDisorders of Sex DevelopmentInborn Errors of Metabolism

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Congenital adrenal hyperplasia
Congenital Abnormality
Adrenal Glands
Hydrocortisone
radiotherapeutic
Retroperitoneal Space

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Neonatal screening for congenital adrenal hyperplasia
459 Summary Objective: The effectiveness of neonatal screening for reducing morbimortality in children with congenital adrenal… (More)
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2008
2008
Testicular Adrenal Rest Tumors in Patients with Congenital Adrenal Hyperplasia
OBJECTIVE Testicular adrenal rest tumors have been described in patients with congenital adrenal hyperplasia (CAH). The aim of… (More)
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Highly Cited
2004
Highly Cited
2004
Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study.
BACKGROUND Congenital adrenal hyperplasia with apparent combined P450C17 and P450C21 deficiency is associated with accumulation… (More)
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Highly Cited
2002
Highly Cited
2002
Masculinized finger length patterns in human males and females with congenital adrenal hyperplasia.
The ratio of the length of the second digit (2D) to the length of the fourth digit (4D) is greater in women than in men. Since… (More)
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2001
2001
Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies.
Congenital adrenal hyperplasia (CAH) refers to a family of monogenic inherited disorders of adrenal steroidogenesis most often… (More)
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1999
1999
Feminizing genitoplasty for congenital adrenal hyperplasia: what happens at puberty?
PURPOSE We document the postpubertal outcome of feminizing genitoplasty. MATERIALS AND METHODS A total of 14 girls, mean age 13… (More)
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Highly Cited
1998
Highly Cited
1998
Results of screening 1.9 million Texas newborns for 21-hydroxylase-deficient congenital adrenal hyperplasia.
OBJECTIVE To assess results of newborn screening for 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) in Texas over… (More)
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Highly Cited
1996
Highly Cited
1996
[Congenital adrenal hyperplasia due to 21-hydroxylase enzyme deficiency].
Congenital adrenal hyperplasia (CAH) is an inherited metabolic disease caused by the deficiency of one of the enzymes necessary… (More)
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Highly Cited
1996
Highly Cited
1996
Psychosexual development of women with congenital adrenal hyperplasia.
Women with congenital adrenal hyperplasia (CAH) (N = 31) and their unaffected sisters or female cousins (N = 15) participated in… (More)
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Highly Cited
1992
Highly Cited
1992
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Genotyping for 10 mutations in the CYP21 gene was performed in 88 families with congenital adrenal hyperplasia due to 21… (More)
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