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 …

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 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 …

Health status of adults with congenital adrenal hyperplasia: a cohort study of 203 patients

W Arlt, DS Willis, SH Wild, N Krone… - The Journal of …, 2010 - academic.oup.com
Context: No consensus exists for management of adults with congenital adrenal hyperplasia
(CAH) due to a paucity of data from cohorts of meaningful size. Objective: Our objective was …

Testicular adrenal rest tumors: current insights on prevalence, characteristics, origin, and treatment

M Engels, PN Span, AE van Herwaarden… - Endocrine …, 2019 - academic.oup.com
This review provides the reader with current insights on testicular adrenal rest tumors
(TARTs), a complication in male patients with congenital adrenal hyperplasia (CAH). In …

Testicular adrenal rest tumours in congenital adrenal hyperplasia

HL Claahsen-Van der Grinten, BJ Otten… - Best practice & research …, 2009 - Elsevier
In adult patients with congenital adrenal hyperplasia (CAH) the presence of testicular
adrenal rest tumours (TARTs) is an important cause of gonadal dysfunction and infertility. In …

Fertility, sexuality and testicular adrenal rest tumors in adult males with congenital adrenal hyperplasia

H Falhammar, HF Nyström, U Ekström… - European journal of …, 2012 - academic.oup.com
Objective Fertility in males with congenital adrenal hyperplasia (CAH) is reported from
normal to severely impaired. Therefore, we investigated fertility/fecundity, social/sexual …

Clinical perspectives in congenital adrenal hyperplasia due to 11β-hydroxylase deficiency

K Bulsari, H Falhammar - Endocrine, 2017 - Springer
Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency is a rare autosomal
recessive genetic disorder. It is caused by reduced or absent activity of 11β-hydroxylase …

Nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency: clinical presentation, diagnosis, treatment, and outcome

H Falhammar, A Nordenström - Endocrine, 2015 - Springer
Nonclassic congenital adrenal hyperplasia (NCAH) is one of the most frequent autosomal
recessive disorders in man with a prevalence ranging from 0.1% in Caucasians up to a few …