Congenital adrenal hyperplasia

D El-Maouche, W Arlt, DP Merke - The Lancet, 2017 - thelancet.com
Congenital adrenal hyperplasia is a group of autosomal recessive disorders encompassing
enzyme deficiencies in the adrenal steroidogenesis pathway that lead to impaired cortisol …

Congenital adrenal hyperplasia

MK Auer, A Nordenström, S Lajic, N Reisch - The Lancet, 2023 - thelancet.com
Congenital adrenal hyperplasia is a group of autosomal recessive disorders leading to
multiple complex hormonal imbalances caused by various enzyme deficiencies in the …

Congenital adrenal hyperplasia

DP Merke, SR Bornstein - The Lancet, 2005 - thelancet.com
Congenital adrenal hyperplasia (CAH) due to deficiency of 21-hydroxylase is a disorder of
the adrenal cortex characterised by cortisol deficiency, with or without aldosterone …

Management of adolescents with congenital adrenal hyperplasia

DP Merke, DP Poppas - The lancet Diabetes & endocrinology, 2013 - thelancet.com
The management of congenital adrenal hyperplasia involves suppression of adrenal
androgen production, in addition to treatment of adrenal insufficiency. Management of …

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood

PC White, TASS Bachega - Seminars in reproductive medicine, 2012 - thieme-connect.com
The most frequent form of congenital adrenal hyperplasia (CAH) is steroid 21-hydroxylase
deficiency, accounting for more than 90% of cases. Affected patients cannot synthesize …

Classic congenital adrenal hyperplasia and puberty

E Charmandari, CG Brook… - European journal of …, 2004 - academic.oup.com
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting
from deficiency of one of the five enzymes required for synthesis of cortisol in the adrenal …

Congenital adrenal hyperplasia

PW Speiser, PC White - New England Journal of Medicine, 2003 - Mass Medical Soc
Congenital adrenal hyperplasia is a group of autosomal recessive disorders resulting from
the deficiency of one of the enzymes required for cortisol synthesis in the adrenal cortex. The …

Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): an update

CM Trapp, SE Oberfield - Steroids, 2012 - Elsevier
Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders. 21-
Hydroxylase deficiency, in which there are mutations in CYP21A2 (the gene encoding the …

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

PC White, PW Speiser - Endocrine reviews, 2000 - academic.oup.com
More than 90% of cases of congenital adrenal hyperplasia (CAH, the inherited inability to
synthesize cortisol) are caused by 21-hydroxylase deficiency. Females with severe, classic …

Treatment and health outcomes in adults with congenital adrenal hyperplasia

TS Han, BR Walker, W Arlt, RJ Ross - Nature Reviews Endocrinology, 2014 - nature.com
Congenital adrenal hyperplasia (CAH) is a genetic disorder caused by defective
steroidogenesis that results in glucocorticoid deficiency; the most common underlying …