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 …

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 …

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 …

Genotype–phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

MI New, M Abraham, B Gonzalez… - Proceedings of the …, 2013 - National Acad Sciences
Over the last two decades, we have extensively studied the genetics of congenital adrenal
hyperplasia caused by 21-hydroxylase deficiency (CAH) and have performed 8,290 DNA …

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 …

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 …

Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PW Speiser, J Dupont, D Zhu, J Serrat… - The Journal of …, 1992 - Am Soc Clin Investig
Genotyping for 10 mutations in the CYP21 gene was performed in 88 families with
congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Southern blot analysis …