AA Parsa, MI New - The Journal of Steroid Biochemistry and Molecular …, 2017 - Elsevier
Congenital adrenal hyperplasia (CAH) refers to a group of inherited genetic disorders involving deficiencies in enzymes that convert cholesterol to cortisol within the adrenal …
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 …
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 …
MI New - Annual review of medicine, 1998 - annualreviews.org
Congenital adrenal hyperplasia is a family of inborn errors of steroidogenesis, each characterized by a specific enzyme deficiency that impairs cortisol production by the adrenal …
AD Carlson, JS Obeid, N Kanellopoulou… - The Journal of steroid …, 1999 - Elsevier
The diagnostic term congenital adrenal hyperplasia (CAH) applies to a family of inherited disorders of steroidogenesis caused by an abnormality in one of the five enzymatic steps …
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 …
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 …
S Nimkarn, K Lin-Su, MI New - Endocrinology and Metabolism …, 2009 - endo.theclinics.com
Congenital adrenal hyperplasia (CAH) refers to a group of genetic enzyme deficiencies that impair normal steroid synthesis by the adrenal cortex. The most common form is 21 …
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 …