Genital ambiguity in a 46,XY individual: case report

Abstract

Genital ambiguity is part of the disorders of sex development. Its prompt recognition and early and precise etiological investigation are fundamental to its proper management. A patient with ambiguous genitalia, born cesarean due to severe pre-eclampsia and oligohydramnios at 34 weeks and 2 days, 1505g, considered small for gestational age (SGA). Examination showed an 1.9cm falus, penoscrotal urethral meatus and bilaterally palpable gonads. In the investigation, he presented normal testosterone (T), androstenedione (A) and dihydrotestosterone (DHT); T/DHT ratio of 9.7 (<10) and T/A of 7.4 (>0.8) and karyotype 46,XY. It was decided for male sex assignment. Testosterone stimulus test was performed, showing penis enlargement of 1.5cm. Intrauterine growth restriction is a considerable risk factor for genital ambiguity in individuals 46,XY. This seems to be the etiology in this case, given its normal hormonal and cytogenetic evaluation and the response to the testosterone stimulus. Disorders of Sex Development, Fetal Growth Retardation, Testis.