Mohs micrographic surgery for fertility preservation in a 46 XX true hermaphrodite

Abstract

OBJECTIVE: To present a novel surgical approach for fertility preservation in a true hermaphrodite who is status-post a unilateral salpingo-oophorectomy for an ovotestis with a gonadoblastoma.DESIGN: Case report.MATERIALS AND METHODS: 20-year-old nulliparous African-American female who was found to have a left ovotestis with a gonadoblastoma and intratubular germ cell neoplasia on pathology after undergoing an exploratory laparotomy and left salpingo-oophorectomy prior to admission for a persistent 9 cm complex left adnexal mass. A CT scan of her abdomen and pelvis did not reveal any evidence of metastatic disease and ovarian tumor markers were negative. Of note, she has had clitoromegaly since she was an infant, and moderate facial acne that developed after puberty. Endocrine studies were significant for an elevated serum total testosterone (66ng/dL range: 2-45ng/dL) and normal free testosterone, 17-hydroxyprogesterone and DHEA-S levels. Peripheral blood karyotype was 46XX. She was referred to the Gynecology Service at the NIH to undergo additional testing to rule-out the presence of a contralateral ovotestis and gonadoblastoma in order to preserve her remaining ovary. Repeat endocrine studies now revealed a normal serum total testosterone level, and genetic testing for SRY was negative. A transvaginal ultrasound revealed a polycystic right ovary. Complete absence of an ovotestis with a gonadoblastoma is impossible to predict without a tissue diagnosis, a decision was made to perform Mohs micrographic surgery of the contralateral ovary in an attempt to preserve it.RESULTS: During the Mohs micrographic surgery, thin slices of ovarian tissue and a wedge resection were obtained from the hilum and sent for intra-operative frozen sections. Pathology revealed stromal cells with no evidence of testicular tissue or a gonadoblastoma, and no further dissections were performed.CONCLUSIONS: True hermaphroditism is characterized by the presence of both ovarian and testicular tissue. There may be an ovary on one side and a testis on the other, but more commonly one gonad is an ovotestis. Although the incidence of bilateral gonadoblastomas and gonadal neoplasia in 46 XX true hermaphrodites is rare, in the absence of a tissue diagnosis they cannot be ruled-out. Mohs micrographic surgery of the ovary represents a novel surgical approach to preserve fertility in these patients while making a tissue diagnosis. OBJECTIVE: To present a novel surgical approach for fertility preservation in a true hermaphrodite who is status-post a unilateral salpingo-oophorectomy for an ovotestis with a gonadoblastoma. DESIGN: Case report. MATERIALS AND METHODS: 20-year-old nulliparous African-American female who was found to have a left ovotestis with a gonadoblastoma and intratubular germ cell neoplasia on pathology after undergoing an exploratory laparotomy and left salpingo-oophorectomy prior to admission for a persistent 9 cm complex left adnexal mass. A CT scan of her abdomen and pelvis did not reveal any evidence of metastatic disease and ovarian tumor markers were negative. Of note, she has had clitoromegaly since she was an infant, and moderate facial acne that developed after puberty. Endocrine studies were significant for an elevated serum total testosterone (66ng/dL range: 2-45ng/dL) and normal free testosterone, 17-hydroxyprogesterone and DHEA-S levels. Peripheral blood karyotype was 46XX. She was referred to the Gynecology Service at the NIH to undergo additional testing to rule-out the presence of a contralateral ovotestis and gonadoblastoma in order to preserve her remaining ovary. Repeat endocrine studies now revealed a normal serum total testosterone level, and genetic testing for SRY was negative. A transvaginal ultrasound revealed a polycystic right ovary. Complete absence of an ovotestis with a gonadoblastoma is impossible to predict without a tissue diagnosis, a decision was made to perform Mohs micrographic surgery of the contralateral ovary in an attempt to preserve it. RESULTS: During the Mohs micrographic surgery, thin slices of ovarian tissue and a wedge resection were obtained from the hilum and sent for intra-operative frozen sections. Pathology revealed stromal cells with no evidence of testicular tissue or a gonadoblastoma, and no further dissections were performed. CONCLUSIONS: True hermaphroditism is characterized by the presence of both ovarian and testicular tissue. There may be an ovary on one side and a testis on the other, but more commonly one gonad is an ovotestis. Although the incidence of bilateral gonadoblastomas and gonadal neoplasia in 46 XX true hermaphrodites is rare, in the absence of a tissue diagnosis they cannot be ruled-out. Mohs micrographic surgery of the ovary represents a novel surgical approach to preserve fertility in these patients while making a tissue diagnosis.