Congenital adrenal hyperplasia—current insights in pathophysiology, diagnostics, and management

HL Claahsen-van der Grinten, PW Speiser… - Endocrine …, 2022 - academic.oup.com
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders affecting
cortisol biosynthesis. Reduced activity of an enzyme required for cortisol production leads to …

Management challenges and therapeutic advances in congenital adrenal hyperplasia

A Mallappa, DP Merke - Nature Reviews Endocrinology, 2022 - nature.com
Abstract Treatment for congenital adrenal hyperplasia (CAH) was introduced in the 1950s
following the discovery of the structure and function of adrenocortical hormones. Although …

The next 150 years of congenital adrenal hyperplasia

AF Turcu, RJ Auchus - The Journal of steroid biochemistry and molecular …, 2015 - Elsevier
Congenital adrenal hyperplasias (CAH) are a group of autosomal recessive defects in
cortisol biosynthesis. Substantial progress has been made since the description of the first …

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 …

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 …

Congenital adrenal hyperplasia

PA Donohoue, M Poth… - The Journal of Clinical …, 2010 - scholar.archive.org
AL ADRENAL HYPERPLASIA www. hormone. org of stress, such as when a patient has an
infection. People with classic CAH, especially those with the salt-wasting form, also need …

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

SF Witchel, R Azziz - Journal of pediatric and adolescent gynecology, 2011 - Elsevier
Congenital adrenal hyperplasia (CAH) due to P450c21 (21-hydroxylase deficiency) is a
common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 …

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 …

[HTML][HTML] Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment

AD Carlson, JS Obeid, N Kanellopoulou… - The Journal of steroid …, 1999 - Elsevier
The diagnostic term congenital adrenal hyperplasia (CAH) applies to a family of inherited
disorders of steroidogenesis caused by an abnormality in one of the five enzymatic steps …