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 …

Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an endocrine society clinical practice guideline

PW Speiser, W Arlt, RJ Auchus… - The Journal of …, 2018 - academic.oup.com
Objective To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase
deficiency clinical practice guideline published by the Endocrine Society in 2010 …

Caring for individuals with a difference of sex development (DSD): a consensus statement

M Cools, A Nordenström, R Robeva, J Hall… - Nature Reviews …, 2018 - nature.com
The term differences of sex development (DSDs; also known as disorders of sex
development) refers to a heterogeneous group of congenital conditions affecting human sex …

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 …

Phase 3 Trial of Crinecerfont in Adult Congenital Adrenal Hyperplasia

RJ Auchus, O Hamidi, R Pivonello… - … England Journal of …, 2024 - Mass Medical Soc
Background Adrenal insufficiency in patients with classic 21-hydroxylase deficiency
congenital adrenal hyperplasia (CAH) is treated with glucocorticoid replacement therapy …

Management of endocrine disease: diagnosis and management of the patient with non-classic CAH due to 21-hydroxylase deficiency

A Nordenström, H Falhammar - European journal of …, 2019 - academic.oup.com
Non-classic congenital adrenal hyperplasia (NCAH) is a relatively common disorder
regardless of ethnicity, but most cases are never diagnosed, especially in males. A baseline …

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency

DP Merke, RJ Auchus - New England Journal of Medicine, 2020 - Mass Medical Soc
CAH Due to 21-Hydroxylase Deficiency Congenital adrenal hyperplasia, a common
autosomal recessive disorder, is potentially life-threatening in its classic form and may be …

Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia

GP Finkielstain, MS Kim, N Sinaii… - The Journal of …, 2012 - academic.oup.com
Context: Patients with congenital adrenal hyperplasia (CAH) often suffer from long-term
complications secondary to chronic glucocorticoid therapy and suboptimal treatment …

Endocrine disorders & female infertility

D Unuane, H Tournaye, B Velkeniers… - Best Practice & Research …, 2011 - Elsevier
Female infertility occurs in about 37% of all infertile couples and ovulatory disorders account
for more than half of these. The ovaries are in continuous interaction with the other …