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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… Expand
National Institutes of Health

Related topics

Related topics

48 relations

Narrower (5)

17,20-Lyase Deficiency, Isolated3 beta-Hydroxysteroid dehydrogenase deficiencyAdrenal hyperplasia 2Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
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Abdominal CavityAdrenal GlandsAdrenal Rest TumorAdrenal hyperplasia
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Broader (3)

Adrenal Gland DiseasesDisorders of Sex DevelopmentInborn Errors of Metabolism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Congenital adrenal hyperplasia
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal… Expand
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… Expand
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Highly Cited
2004
Highly Cited
2004
Androgen and psychosexual development: Core gender identity, sexual orientation, and recalled childhood gender role behavior in women and men with congenital adrenal hyperplasia (CAH)
We assessed core gender identity, sexual orientation, and recalled childhood gender role behavior in 16 women and 9 men with… Expand
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… Expand
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Highly Cited
2001
Highly Cited
2001
High prevalence of testicular adrenal rest tumors, impaired spermatogenesis, and Leydig cell failure in adolescent and adult males with congenital adrenal hyperplasia.
In male patients with congenital adrenal hyperplasia, testicular tumors, or so-called adrenal rest tumors, have been described… Expand
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… Expand
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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… Expand
Highly Cited
1992
Highly Cited
1992
Cloning of the Ah-receptor cDNA reveals a distinctive ligand-activated transcription factor.
A cDNA encoding the murine Ah receptor (Ahb-1 allele for aromatic hydrocarbon responsiveness) has been isolated and characterized… Expand
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Highly Cited
1989
Highly Cited
1989
Interleukin 6 is expressed in high levels in psoriatic skin and stimulates proliferation of cultured human keratinocytes.
Psoriasis is a common papulosquamous skin disease. The histopathology is characterized by epidermal hyperplasia and inflammation… Expand
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Highly Cited
1979
Highly Cited
1979
Virus‐associated hemophagocytic syndrome A benign histiocytic proliferation distinct from malignant histiocytosis
Nineteen patients whose bone marrow smears showed histiocytic hyperplasia with prominent hemophagocytosis were found to have a… Expand
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