Abstract
The clinical and genetic characteristics of a patient with male pseudohermaphroditism, being considered as an isolated 17, 20-lyase deficiency case, were analyzed. The social gender of the patient aged 30-year-old was female. The patient presented with 46, XY karyotype, unclosed epiphysis, after perineal block resection, hypergonadotropic hypogonadism, while the production of mineralocorticoids and glucocorticoids hormone was intact. A503V heterozygous mutation in exon 13 and a deletion in intron 11 of POR gene were detected. The gene mutations may lead to the occurrence of the isolated 17, 20-lyase deficiency. (Chin J Endocrinol Metab, 2016, 32: 587-589) Key words: Cytochrome P450 oxidoreductase; 17α-hydroxylase; 17, 20-lyase; Gene mutation
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