ESPE Abstracts (2019) 92 P2-255

A Rare Cause of 46, XX ovotesticular DSD: Tetragametic Gonadal Chimerism

Ahmet Uçar1, Tülay Güran2, Funda Eren3, Ali Ihsan Dokucu4, Süleyman Şahin4, Canan Tanik5


1Health Sciences University, Sisli Hamidiye Etfal Education and Research Hopital, Pediatric Endocrinology and Diabetes Clinic, Istanbul, Turkey. 2Marmara University, School of Medicine,Department of Pediatric Endocrinology and Diabetes, Istanbul, Turkey. 3Marmara University,School of Medicine,Department of Pathology, Istanbul, Turkey. 4Health Sciences University, Sisli Hamidiye Etfal Education and Research Hospital,Department of Pediatric Surgery, Istanbul, Turkey. 5Health Sciences University, Sisli Hamidiye Etfal Education and Research Hospital, Department of Pathology, Istanbul, Turkey


Introduction: Virilization and hirsutism are clinical findings of androjen excess in females mostly due to polycystic ovary syndrome, although androgenic drugs, nonclassic congenital adrenal hyperplasia and androgen secreting adrenal/ovarian lesions are also implicated. 46, XX ovotesticular disorder of sex development (DSD) is the rarest form of DSD with an incidence of less than 1 in 20000.

Case report: A 15-year-old adolescent girl was referred to the endocrine outpatient clinic due to apparent virilization. Physical examination was unremarkable except android habitus, hirsutism and cliteromegaly. Genital examination revealed a soft, ovoid mass in right labium with a longitudinal diameter of 2 cm. Pubertal staging was Tanner 4. . Medial history revealed genital reconstruction due to ambigous genitalia at 4 yr of age, with no subsequent follow-up. Her parents were first cousins. Initial laboratory work-up at admission was significant for elevated basal serum LH (24 mIU/L) and elevated serum total testosterone (1.4 ng/mL and 2.1 ng/mL). Standard ACTH test and DHEAS level was normal.Peripheral blood karyotype analysis (30 metaphase) was 46, XX and SRY FISH analysis was negative. Laparoscopy was performed to remove the labial mass, and for gonadal biopsy . The labial mass turned out to be a lipogranulomatous mass of no clinical significance. Uterus and Mullerian structures were observed in laparoscopy. The gonadal biopsy revealed bilateral ovotestes. The ovarian tissue included follicular cysts and testicular tissue showed the presence of seminiferous tubules with spermatogenesis. There was a clear demarcation between ovarian and testicular tissues in histological examination. The patient was started on oral contraceptive to induce menstrual bleeding, promote feminization and reduce serum testosterone levels. Further genetic analysis was negative for SF-1 gene mutations and SOX-9 duplications. The gonads were positive for Y chromosome markers including SRY, AZFa and AZFb establishing gonadal chimerism. The patient is currently being evaluated regarding the best surgical options to preserve future fertility.

Conclusions: 46, XX ovotesticular DSD is a very rare cause of virilization in a adolescent female. Gonadal chimerism should be considered in the etiology of 46, XX SRY (-) ovotesticular DSD.

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