title: 17-Hydroxylase/17,20 lyase deficiency diagnosed during childhood.
abstract: We present a case of familial 17alpha-hydroxylase/17,20 lyase (CYP17) deficiency in which the index case, a 14-year-old XX girl, led to the diagnosis of the condition in a 9-year-old XY sister. No mutations in the CYP 17 gene were found in any of the girls.
authors: London Centre for Paediatric Endocrinology and Metabolism, University College London Hospitals, London, UK.
authors: O D
authors: OD
authors: Wolthers
authors: G
authors: G
authors: Rumsby
authors: K
authors: K
authors: Techatraisak
authors: J W
authors: JW
authors: Honour
authors: P C
authors: PC
authors: Hindmarsh
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics*; D002648:Child; D005091:Exons; D005260:Female; D006801:Humans; D010375:Pedigree; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*; D014998:Y Chromosome
chemical_list: D013254:Steroid 17-alpha-Hydroxylase