Delayed puberty from partial 17-alpha hydroxylase enzyme deficiency

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 dia...

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Veröffentlicht in:	New Zealand medical journal 2012-05, Vol.125 (1355), p.71
Hauptverfasser:	Croxson, Michael, Ogilvie, C Megan, Milsom, Stella, Lewis, John, Davidson, James, Rumsby, Gill
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adrenal glands Adrenal Hyperplasia, Congenital - enzymology Adrenal Hyperplasia, Congenital - genetics Biomarkers - blood Blood pressure Female Glucocorticoids - therapeutic use Humans Hypertension Metabolites Mutation Puberty Puberty, Delayed - enzymology Steroid 17-alpha-Hydroxylase - blood Steroid Hydroxylases - deficiency
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Beschreibung
Zusammenfassung:	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 demonstrated c.160_162delTTC (p.Phe54del) homozygous mutation. Ultrasound showed bilateral small ovaries with multiple cysts. The serum anti-mullerian hormone concentration was unremarkable at 6.6 (normal
ISSN:	1175-8716