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 …

11-Oxygenated androgens in health and disease

AF Turcu, J Rege, RJ Auchus, WE Rainey - Nature Reviews …, 2020 - nature.com
The adrenal gland is a source of sex steroid precursors, and its activity is particularly
relevant during fetal development and adrenarche. Following puberty, the synthesis of …

Normal and premature adrenarche

RL Rosenfield - Endocrine reviews, 2021 - academic.oup.com
Adrenarche is the maturational increase in adrenal androgen production that normally
begins in early childhood. It results from changes in the secretory response to …

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 …

[HTML][HTML] Intracrine androgen biosynthesis, metabolism and action revisited

L Schiffer, W Arlt, KH Storbeck - Molecular and cellular endocrinology, 2018 - Elsevier
Androgens play an important role in metabolic homeostasis and reproductive health in both
men and women. Androgen signalling is dependent on androgen receptor activation, mostly …

Steroidogenesis: unanswered questions

WL Miller - Trends in Endocrinology & Metabolism, 2017 - cell.com
Until the mid-1980s studies of steroidogenesis largely depended on identifying steroid
structures and measuring steroid concentrations in body fluids. The molecular biology …

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 …

The clinical and biochemical significance of 11-oxygenated androgens in human health and disease

KH Storbeck, MW O'Reilly - European Journal of Endocrinology, 2023 - academic.oup.com
For many decades, the prevailing paradigm in endocrinology was that testosterone and 5α-
dihydrotestosterone are the only potent androgens in the context of human physiology. The …