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 …

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 …

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 …

Long‐term health consequences of congenital adrenal hyperplasia

R Pofi, X Ji, NP Krone, JW Tomlinson - Clinical Endocrinology, 2024 - Wiley Online Library
Congenital adrenal hyperplasia (CAH) caused by 21‐hydroxylase deficiency accounts for
95% of all CAH cases and is one of the most common inborn metabolic conditions. The …

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 …

Mortality and morbidity in adult craniopharyngioma

EM Erfurth, H Holmer, SB Fjalldal - Pituitary, 2013 - Springer
A craniopharyngioma (CP) is an embryonic malformation of the sellar and parasellar region.
The annual incidence is 0.5–2.0 cases/million/year and approximately 60% of CP are seen …

Bone mineral density is not significantly reduced in adult patients on low-dose glucocorticoid replacement therapy

KR Koetz, M Ventz, S Diederich… - The Journal of Clinical …, 2012 - academic.oup.com
Context: Patients with primary adrenal insufficiency (PAI) and patients with congenital
adrenal hyperplasia (CAH) receive glucocorticoid replacement therapy, which might cause …

Fractures and bone mineral density in adult women with 21-hydroxylase deficiency

H Falhammar, H Filipsson, G Holmdahl… - The Journal of …, 2007 - academic.oup.com
Context: Patients with classical congenital adrenal hyperplasia (CAH) receive lifelong, often
supraphysiological, glucocorticoid therapy. Pharmacological doses of glucocorticoids are an …

Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues

CM Ogilvie, NS Crouch, G Rumsby… - Clinical …, 2006 - Wiley Online Library
Our knowledge of the experience of adults with congenital adrenal hyperplasia (CAH) as
they pass through life is only now emerging. In this review we gather medical, surgical and …