Article
Delayed puberty from partial 17-alpha hydroxylase enzyme deficiency.
The New Zealand medical journal - 25 May 2012
Croxson Michael, Ogilvie C Megan, Milsom Stella, Lewis John, Davidson James, Rumsby Gill
Abstract excerpt
An 18-year-old woman with primary amenorrhoea and pubertal delay was investigated for mild labile hypertension and secondary hypogonadism. Low renin and normal aldosterone levels combined with evidence of primary adrenal insufficiency suggested partial 17-alpha hydroxylase enzyme deficiency. The diagnosis was confirmed by measurement of 24-hour urine steroid metabolites and whole gene sequencing of CYP17A1 that...
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