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 …

The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders

WL Miller, RJ Auchus - Endocrine reviews, 2011 - academic.oup.com
Steroidogenesis, the processes by which cholesterol is converted to steroid hormones,
involves transport proteins, enzymes, redox partners and cofactors. Most steroidogenic …

Human cytochromes P450 in health and disease

DW Nebert, K Wikvall, WL Miller - … Transactions of the …, 2013 - royalsocietypublishing.org
There are 18 mammalian cytochrome P450 (CYP) families, which encode 57 genes in the
human genome. CYP2, CYP3 and CYP4 families contain far more genes than the other 15 …

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 steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline

PW Speiser, R Azziz, LS Baskin… - The Journal of …, 2010 - academic.oup.com
Objective: We developed clinical practice guidelines for congenital adrenal hyperplasia
(CAH). Participants: The Task Force included a chair, selected by The Endocrine Society …

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 …

How sexually dimorphic are we? Review and synthesis

M Blackless, A Charuvastra, A Derryck… - American Journal of …, 2000 - Wiley Online Library
The belief that Homo sapiens is absolutely dimorphic with the respect to sex chromosome
composition, gonadal structure, hormone levels, and the structure of the internal genital duct …

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 enzymes required for cortisol synthesis in the adrenal cortex. The …

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 …

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 …