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 …

Diagnosis and treatment of primary adrenal insufficiency: an endocrine society clinical practice guideline

SR Bornstein, B Allolio, W Arlt, A Barthel… - The Journal of …, 2016 - academic.oup.com
Objective: This clinical practice guideline addresses the diagnosis and treatment of primary
adrenal insufficiency. Participants: The Task Force included a chair, selected by The Clinical …

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

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 …

The clinically inapparent adrenal mass: update in diagnosis and management

G Mansmann, J Lau, E Balk, M Rothberg… - Endocrine …, 2004 - academic.oup.com
Clinically inapparent adrenal masses are incidentally detected after imaging studies
conducted for reasons other than the evaluation of the adrenal glands. They have frequently …

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 …

Genetics of congenital adrenal hyperplasia

N Krone, W Arlt - Best practice & research clinical endocrinology & …, 2009 - Elsevier
Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic
disorders. It comprises a group of autosomal recessive disorders caused by the deficiency of …

Human cytochrome P450 enzymes

FP Guengerich - Cytochrome P450: structure, mechanism, and …, 2005 - Springer
Much of P450 research has always been done with the view of appUcation to humans, even
when done with experimental animals and microorganisms. Research with the human …