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

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—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 …

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 …

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 …

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

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 21-…