46,XX/SRY-negative true hermaphrodite

Abstract

Objective: To describe genetic evaluation and response to surgery and letrozole therapy of a 46,XX/SRY-negative true hermaphrodite. Design: Case report. Setting: University Medical Center. Patient(s): Nineteen-year-old male with penile hypospadias, micropenis, and crytorchidism at the time of birth. Intervention(s): Unilateral gonadectomy, and contralateral conservative gonadal surgery, followed by therapy with letrozole. Main Outcome Measure(s): Histopathologic, genetic and hormonal studies. Result(s): Genetic analysis showed that the subject was 46,XX/SRY-negative. Gonadectomy of the left gonad was performed at 16 years. The gonad resected was an ovotestes. The patient's estradiol was high (492 ± 25 pmol/L), whereas the testosterone was low (4.2 ± 0.5 nmol/L). Nineteen months later, conservative gonadal surgery of the contralateral gonad was performed to resect ovarian tissue, and treatment with letrozole was started. During letrozole treatment, testosterone was significantly increas