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Congenital Adrenal Hyperplasia

Journal of Pediatric and Adolescent Gynecology, 2011
Congenital adrenal hyperplasia (CAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features reflect the magnitude of the loss of function mutations.
Selma Feldman, Witchel, Ricardo, Azziz
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Congenital adrenal hyperplasia

Lancet, The, 2023
Congenital adrenal hyperplasia is a group of autosomal recessive disorders leading to multiple complex hormonal imbalances caused by various enzyme deficiencies in the adrenal steroidogenic pathway. The most common type of congenital adrenal hyperplasia is due to steroid 21-hydroxylase (21-OHase, henceforth 21OH) deficiency.
Matthias K Auer, Anna Nordenström, Svetlana Lajic   +2 more
exaly   +3 more sources

Congenital adrenal hyperplasia

Dermatologic Therapy, 2008
The congenital adrenal hyperplasias are a group of autosomal recessive disorders associated with impaired steroidogenesis. Several types of the congenital adrenal hyperplasias are associated with decreased cortisol production and excessive adrenal sex steroid secretion.
Cem, Demirci, Selma Feldman, Witchel
exaly   +3 more sources

Congenital Adrenal Hyperplasia

New England Journal of Medicine, 2003
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.
Phyllis W Speiser, Perrin C White, Speiser Phyllis W   +2 more
exaly   +3 more sources

Congenital Adrenal Hyperplasia

Clinical Biochemistry, 1973
The enzyme defects of steroidogenesis appear to be monogenic disorders. The clinical heterogeneity of these disorders suggests allelic variations at the loci for these disorders, as has been reported for other gentic inborn errors. When the genes for these enzymes are cloned and sequenced, the final proof of allelism will be obtained.
M I, New, L S, Levine
openaire   +4 more sources

Testicular adrenal rest tumours in congenital adrenal hyperplasia [PDF]

Best Practice and Research in Clinical Endocrinology and Metabolism, 2009
Contains fulltext : 81413.pdf (Publisher’s version ) (Open Access)In adult patients with congenital adrenal hyperplasia (CAH), the presence of testicular adrenal rest tumours (TART) is an important complication leading to gonadal ...
B J Otten, Fred C G J Sweep, Ad Hermus
exaly   +2 more sources