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—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
… Treatment for congenital adrenal hyperplasia (CAH) was introduced in the 1950s following
… Nodular cortical adrenal hyperplasia is common in congenital adrenal hyperplasia (CAH). …

Congenital adrenal hyperplasia

D Török - Genetics of Endocrine Diseases and Syndromes, 2019 - Springer
… Less common forms of CAH are 3β-hydroxysteroid dehydrogenase type 2 deficiency (HSD3B2),
17α-hydroxylase deficiency (17-OHD), congenital lipoid adrenal hyperplasia, side-chain …

Congenital adrenal hyperplasia: time to replace 17OHP with 21-deoxycortisol

WL Miller - Hormone research in paediatrics, 2019 - karger.com
Congenital adrenal hyperplasia (CAH) due to steroid 21-hydroxylase deficiency (21OHD)
has a worldwide incidence of 1 in 15–20,000. Affected individuals have adrenal insufficiency …

[HTML][HTML] Long-term outcomes of congenital adrenal hyperplasia

A Nordenström, S Lajic… - Endocrinology and …, 2022 - synapse.koreamed.org
congenital adrenal hyperplasia (CAH). The causes are multiple and involve supra-physiological
gluco- and mineralocorticoid replacement, excess adrenal … with a congenital condition …

[HTML][HTML] Classic congenital adrenal hyperplasia and its impact on reproduction

LG Gomes, TASS Bachega, BB Mendonca - Fertility and Sterility, 2019 - Elsevier
Women with classic congenital adrenal hyperplasia (CAH) can suffer from impaired fertility
rates as a result of increased androgen secretion or impaired sex steroid production. In …

The uncommon forms of congenital adrenal hyperplasia

RJ Auchus - Current Opinion in Endocrinology, Diabetes and …, 2022 - journals.lww.com
The congenital adrenal hyperplasias (CAHs) refers to any genetic disorder affecting an enzyme
or cofactor protein necessary for the biosynthesis of cortisol. Severe, complete or nearly …

Clinical advances in the pharmacotherapy of congenital adrenal hyperplasia

A Prete, RJ Auchus, RJ Ross - European journal of …, 2022 - academic.oup.com
… for adrenal insufficiency – was life-saving for patients born with classic congenital adrenal
hyperplasia … drives the overproduction of adrenal androgens, and adrenal hyperplasia (Fig. 1). …

Novel treatments for congenital adrenal hyperplasia

MAM Schröder… - Reviews in Endocrine and …, 2022 - Springer
… Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (…
lacking mineralocorticoids and to lower elevated adrenal androgens. Long-term complications …