Nicos Skordis, Christos Shammas, Elisavet Efstathiou, Amalia Sertedaki, Vassos Neocleous, Leonidas Phylactou
BACKGROUND: The clinical spectrum of 5α-reductase deficiency, caused by mutations in the SRD5A2 gene, ranges from complete female appearance of the external genitalia at birth to nearly complete male phenotype. CASE REPORT: A 14-year-old girl presented with primary amenorrhea (PA) and lack of breast development …