EN
TÜRKÇE
Oral Presentation - 59
OVOTESTICULAR DISORDERS OF SEX DEVELOPMENT: SURGICAL DIAGNOSIS AND MANAGEMENT OF 27 CASES
BACKGROUND:
Ovotesticular disorder of sex development (OT-DSD) is defined as the simultaneous presence of both testicular and ovarian tissue in the same individual. It is considered the least common and least understood variant of DSD in humans.
PATIENTS AND METHODS:
Twenty-seven cases with OT-DSD were diagnosed and surgically managed in Cairo University-Pediatric Hospitals over a period of 25 years (1984 – 2009). Their ages ranged between one month and 17 years with a mean of 2.3 years. After full clinical examination, cytogenetic, hormonal and radiological studies were accomplished, abdominal exploration with gonadal biopsies were performed via open surgery in the early phases of the study (till 1990) then laparoscopic approach became the standard approach afterwards. Surgical reconstruction was performed as a one-stage procedure in most cases including various techniques for genitoplasty, excision of contradictory internal genitalia, or tumors and surgery for gynecomastia.
RESULTS:
Genital ambiguity with predominance of the male phenotype was the most frequent complaint (77.7%) followed by gynecomastia in 14.8% and inguinal mass in 7.4% .Twenty one patients were raised as males at the time of presentation due to the relative average size of their phallus. The most frequent karyotype was 46,XX in 77.68.% of patients, followed by 46 XO/XY, 46XY and 46XX/XY while SRY was negative in all 46,XX. The prevalent gonad was ovotestis (OT=37. %), followed by ovary (OV=31.48. %) then the testis (TT=27.7% and the prevalent gonadal associations were OV+TT (40.74%)[lateral], OT+OV (25.9%), OT+TT (18.5%) {unilateral], and OT+OT (14.8%) [bilateral]. Gonads with testicular tissue were more frequent on the right side, while pure ovarian tissue was more common on the left. There was preference of male sex of rearing despite a severe degree of genital ambiguity. Bilateral OT were always located intra-abdominally. Four OT were located in labio-scrotal folds while this location occurred only in a single ovary .All OT were preferred to be excised. Two cases were reassigned as females at the age of 1.25 and 3 years, while one case reversed the sex to male at the age of 2 years. Two male patients developed dysgerminoma and gonadoblastoma at the age of 17 and 14 years old.
CONCLUSIONS:
OT-DSD is a phenotypically and genetically a heterogeneous condition. Early diagnosis and sex assignment are essential to avoid psychological and social problems. Laparoscopy has an important role in surgical diagnosis and management of such cases. Scrotal gonads should be always explored. OT is preferably to be excised.