Congenital adrenal hyperplasia

SF Witchel - Journal of pediatric and adolescent gynecology, 2017 - Elsevier
The congenital adrenal hyperplasias comprise a family of autosomal recessive disorders
that disrupt adrenal steroidogenesis. The most common form is due to 21-hydroxylase …

Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

DP Merke, SR Bornstein, NA Avila… - Annals of Internal …, 2002 - acpjournals.org
Congenital adrenal hyperplasia describes a group of inherited autosomal recessive
disorders characterized by an enzymatic defect in cortisol biosynthesis, compensatory …

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 …

Non-classic congenital adrenal hyperplasia

SF Witchel - Steroids, 2013 - Elsevier
Non-classic or late-onset congenital adrenal hyperplasia (NCAH) due to 21-hydroxylase
deficiency is one of the most common autosomal recessive disorders. Reported prevalence …

Classic congenital adrenal hyperplasia and puberty

E Charmandari, CG Brook… - European journal of …, 2004 - academic.oup.com
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting
from deficiency of one of the five enzymes required for synthesis of cortisol in the adrenal …

Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency

S Nimkarn, MI New - Molecular and Cellular Endocrinology, 2009 - Elsevier
Congenital adrenal hyperplasia (CAH) applies to a group of inherited disorders caused by
an enzyme deficiency in steroid biosynthesis. The most common form of CAH is 21 …

Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency

PW Speiser - Endocrinology and Metabolism Clinics, 2001 - endo.theclinics.com
Congenital adrenal hyperplasia (CAH) owing to 21-hydroxylase deficiency is the most
common cause of genital ambiguity in the newborn and is present in about 1 in 15,000 live …

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 …

Approach to the adult with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

DP Merke - The Journal of Clinical Endocrinology & Metabolism, 2008 - academic.oup.com
Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders
where there is impairment of cortisol biosynthesis. CAH due to 21-hydroxylase deficiency …

Inborn errors of adrenal steroidogenesis

MI New - Molecular and cellular endocrinology, 2003 - Elsevier
Congenital adrenal hyperplasia (CAH) refers to a family of inherited disorders of adrenal
steroidogenesis in which each disorder is characterized by a specific enzyme deficiency that …