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

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
459 Summary Objective: The effectiveness of neonatal screening for reducing morbimortality in children with congenital adrenal… (More)
  • figure 1
  • figure 2
Is this relevant?
2008
2008
OBJECTIVE Testicular adrenal rest tumors have been described in patients with congenital adrenal hyperplasia (CAH). The aim of… (More)
Is this relevant?
Highly Cited
2004
Highly Cited
2004
BACKGROUND Congenital adrenal hyperplasia with apparent combined P450C17 and P450C21 deficiency is associated with accumulation… (More)
  • figure 1
  • table 1
  • table 2
  • figure 2
  • figure 3
Is this relevant?
Highly Cited
2002
Highly Cited
2002
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)
  • figure 1
  • figure 2
Is this relevant?
2001
2001
Congenital adrenal hyperplasia (CAH) refers to a family of monogenic inherited disorders of adrenal steroidogenesis most often… (More)
Is this relevant?
1999
1999
PURPOSE We document the postpubertal outcome of feminizing genitoplasty. MATERIALS AND METHODS A total of 14 girls, mean age 13… (More)
Is this relevant?
Highly Cited
1998
Highly Cited
1998
OBJECTIVE To assess results of newborn screening for 21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) in Texas over… (More)
Is this relevant?
Highly Cited
1996
Highly Cited
1996
Congenital adrenal hyperplasia (CAH) is an inherited metabolic disease caused by the deficiency of one of the enzymes necessary… (More)
Is this relevant?
Highly Cited
1996
Highly Cited
1996
Women with congenital adrenal hyperplasia (CAH) (N = 31) and their unaffected sisters or female cousins (N = 15) participated in… (More)
Is this relevant?
Highly Cited
1992
Highly Cited
1992
Genotyping for 10 mutations in the CYP21 gene was performed in 88 families with congenital adrenal hyperplasia due to 21… (More)
  • table I
  • table II
  • figure 1
  • table III
  • table IV
Is this relevant?