Health problems in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

N Reisch, W Arlt, N Krone - Hormone research in paediatrics, 2011 - karger.com
Following the introduction of life-saving glucocorticoid replacement 60 years ago, congenital
adrenal hyperplasia (CAH) has evolved from being perceived as a paediatric disorder to …

[引用][C] Congenital Adrenal Hyperplasia: A Comprehensive Guide

PC Hindmarsh, K Geertsma - 2017 - Academic Press

Prenatal diagnosis and in utero treatment of congenital adrenal hyperplasia: An up‐to‐date comprehensive review

OO Okpaise, H Ahn, G Tonni, R Ruano - Prenatal Diagnosis, 2024 - Wiley Online Library
Congenital adrenal hyperplasia (CAH) is a term that encompasses a wide range of
conditions that affect the adrenals. Diagnosis and treatment before birth are important as …

Prenatal Diagnosis and Treatment in Congenital Adrenal Hyperplasia

Z Yavas Abali, T Guran - Fertility and Reproductive Outcomes in Different …, 2021 - Springer
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by a
defect in enzymes necessary for adrenal steroidogenesis. Deficient cortisol synthesis leads …

Congenital adrenal hyperplasia due to 21 hydroxylase deficiency: from birth to adulthood

PC White, TASS Bachega - Seminars in reproductive medicine, 2012 - thieme-connect.com
The most frequent form of congenital adrenal hyperplasia (CAH) is steroid 21-hydroxylase
deficiency, accounting for more than 90% of cases. Affected patients cannot synthesize …

[PDF][PDF] Guidelines for the development of comprehensive care centers for congenital adrenal hyperplasia: guidance from the CARES Foundation initiative

RJ Auchus, SF Witchel, KR Leight, J Aisenberg… - International journal of …, 2010 - Springer
Patients with rare and complex diseases such as congenital adrenal hyperplasia (CAH)
often receive fragmented and inadequate care unless efforts are coordinated among …

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

H Simpson, I Hughes - Medicine, 2013 - Elsevier
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder of adrenal steroid
biosynthesis affecting 1/10,000 to 1/15,000 live births. The most common form is 21 …

21-hydroxylase deficiency congenital adrenal hyperplasia

A Shaw - Neonatal Network, 2010 - connect.springerpub.com
CONONGENITAL ADRENAL hyperplasia (CAH) is an inborn error of metabolism that can
produce life-threatening disease in the first one to three weeks of life, unless properly …

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 …