Ovotesticular disorders of sexual development in a 46,XX karyotype with SRY gene expression and in a 46,XY karyotype with streak gonad, dysgerminoma, gonadoblastoma, and papillary tubal hyperplasia

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: MON 631-640-Pediatric Endocrinology Case Reports: Disorders of Sexual Differentiation
Monday, June 17, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board MON-638
Enver Simsek*, Cigdem Binay, Baran Tokar, Sare Kabukcuoglu and Melek Ustun
Eskisehir Osmangazi University School of Medicine, Eskisehir, Turkey
Background: The diagnosis of ovotesticular DSD is based solely on the presence of ovarian and testicular tissue in the gonad.

Patients and Result: Case 1: She was referred to our institution on the third day after birth due to ambiguous genitalia. Upon physical examination, the patient had ambiguous genitalia. The initial workup was negative for congenital adrenal hyperplasia (CAH) and included measurements of 17-hydroxyprogesterone (85 ng/dL), 11-deoxycortisol (27 ng/dL), androstenedione (62 ng/dL), and dehydroepiandrosterone sulphate (59.7 μg/dl). Chromosomal analysis and fluorescence in situhybridisation (FISH) of SRY revealed a SRY-positive 46,XX karyotype. The hCG test confirmed the presence of functional testes in the undescended gonads. Pelvic ultrasonography showed a bicornuate uterus aqnd tuba uterinas; neither gonad could be identified. Using laparoscopic examination, Müllerian remnants were identified and consisted of a gonad, a fallopian tube adjacent to the gonad with a bilateral fimbriated end. Bilateral longitudinal wedge gonadal biopsies were performed. Histopathological examination demonstrated features of bilateral ovotestes. The parents were informed that patients with SRY-positive 46,XX DSD and ovotesticular gonadal structures have a high risk of the development of malignant gonadal tumours in the future. 

Case 2: A 15-year-old female presented with primary amenorrhoea and short stature. She was the first child of non-consanguineous parents . Physical examination revealed that she was prepubertal with Tanner Stage I breast development and Stage III pubic hair development, and normal female external genitalia phenotype . Her height of 149 cm was below the third percentile. Her bone age was delayed by 3.5 years. Hormone assays revealed low oestradiol (<10 pg/ml), high FSH (73.7 mIU/ml), and high LH (33 mIU/ml) indicating hypergonadotropic hypogonadism. Pelvic US revealed a small uterus and hypoplastic gonads. Chromosomal analysis and FISH of SRY showed an SRY-positive 46,XY karyotype. Laparoscopic examination revealed a left tubular structure arising from the rudimentary uterus that ended with the left gonad, left tubular structure, and streak right gonad. The parents and patient were informed of the malignancy risk of dysgenetic gonads. A bilateral gonadectomy was carried out. Histopathological examination  revealed features of an ovotestis with both ovarian and testicular tissues present in addition to a gonadoblastoma on the base of dysgerminomas.

Conclusions: Laparoscopic examination and gonadal biopsy remain the cornerstones for a diagnosis of ovotesticular DSD. Moreover, SRY positivity in a 46,XX patient, a 46,XY karyotype, an intra-abdominal gonad, and the age of patient at the time of diagnosis are predictive risk factors for the development of gonadoblastoma in ovotesticular DSD.

Nothing to Disclose: ES, CB, BT, SK, MU

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