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

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 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 …

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 …

Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women

E Carmina, D Dewailly… - Human reproduction …, 2017 - academic.oup.com
BACKGROUND Non-classic congenital hyperplasia (NCAH) due to 21-hydroxylase
deficiency is a common autosomal recessive disorder characterized by androgen excess …

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 …

Adrenal-derived 11-oxygenated 19-carbon steroids are the dominant androgens in classic 21-hydroxylase deficiency

AF Turcu, AT Nanba, R Chomic… - European journal of …, 2016 - academic.oup.com
Objective To comprehensively characterize androgens and androgen precursors in classic
21-hydroxylase deficiency (21OHD) and to gain insights into the mechanisms of their …

Adrenal steroidogenesis and congenital adrenal hyperplasia

AF Turcu, RJ Auchus - Endocrinology and Metabolism Clinics, 2015 - endo.theclinics.com
Adrenal steroidogenesis is a dynamic process, reliant on de novo synthesis, with no
presynthesized hormones stored for immediate release. Cholesterol is the common …

Congenital adrenal hyperplasia

SF Witchel - Journal of pediatric and adolescent gynecology, 2017 - Elsevier
The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders
that disrupt adrenal steroidogenesis. The most common form is due to 21-hydroxylase …

A phase 2 study of Chronocort, a modified-release formulation of hydrocortisone, in the treatment of adults with classic congenital adrenal hyperplasia

A Mallappa, N Sinaii, P Kumar… - The Journal of …, 2015 - academic.oup.com
Context: Treatment of congenital adrenal hyperplasia (CAH) is suboptimal. Inadequate
suppression of androgens and glucocorticoid excess are common and current …