Congenital adrenal hypoplasiaGene: CYP17A1
Rarely presents with classic adrenal inusufficiency. Associated with salt retention and ultimately hypertension rather than salt loss. Affects sex steroid production in both sexes. Should be diagnosable on biochemistry but could potentially get confused with adrenal hypoplasia if limited assessment undertaken.
Created: 4 Feb 2016, 4:29 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
06/02/2016: Panel revised according to expert review, further curation and discussion with Clinical Geneticists at Genomics England. Ready to promote to version 1.
Phenotypes for CYP17A1 were set to Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency;hypergonadotropic hypogonadism, adrenal insufficiency and mineralocorticoid excess
Publications for CYP17A1 were set to 24593890 (article in Spanish)
CYP17A1 was added to Congenital adrenal hypoplasiapanel. Sources: UKGTN