17-Hydroxylase/17,20 lyase deficiency diagnosed during childhood.
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.
Wolthers
O D
OD
London Centre for Paediatric Endocrinology and Metabolism, University College London Hospitals, London, UK.
Rumsby
G
G
Techatraisak
K
K
Honour
J W
JW
Hindmarsh
P C
PC
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
D013254:Steroid 17-alpha-Hydroxylase