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

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 deficiency, …

Congenital adrenal hyperplasia

SF Witchel - Journal of pediatric and adolescent gynecology, 2017 - Elsevier
… The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders …
resembles congenital lipoid adrenal hyperplasia without the massively enlarged adrenal glands…

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 five enzymes required for the synthesis of cortisol in the adrenal

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 …

Congenital adrenal hyperplasia

SF Witchel, R Azziz - Journal of pediatric and adolescent gynecology, 2011 - Elsevier
… and the zona reticularis, resulting in the adrenal hyperplasia typical of the syndrome, and
possibly increased adrenocortical nodularity. Individuals with simple virilizing and nonclassical …

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 adrenal

Genetics of congenital adrenal hyperplasia

N Krone, W Arlt - Best practice & research clinical endocrinology & …, 2009 - Elsevier
Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders.
It comprises a group of autosomal recessive disorders caused by the deficiency of one …

Congenital adrenal hyperplasia

PC White, MI New, BO Dupont - New England Journal of …, 1987 - Mass Medical Soc
(First of Two Parts) CONGENITAL adrenal hyperplasia results from an inherited defect in
any of the five enzymatic steps required to synthesize Cortisol from cholesterol. A defect in a …

An update of congenital adrenal hyperplasia

MI New, L Ghizzoni, K Lin-Su - Pediatric endocrinology, 2006 - taylorfrancis.com
Congenital adrenal hyperplasia (CAH) is a family of inherited disorders of adrenal
steroidogenesis. Each of these disorders results from a deficiency in one of the several enzymatic …