Turner Syndrome (45x) with Clitoromegaly

Abstract

MV, a 6-year-old female, presented for evaluation of ambiguous genitalia. The examination was significant for short stature, high arched palate and cubitus valgus. Genital examination revealed an enlarged phallic structure 3 cm in length, a perineal urethra and a vaginal introitus. The labioscrotal folds were mildly rugated and nonfused, with no palpable gonads (fig. 1). A voiding cystourethrogram demonstrated a normal female urethra and a cervical impression. Abdominopelvic ultrasonography showed a uterus, a solitary left kidney and no identifiable gonads. 17-Hydroxyprogesterone and testosterone levels were normal, with values of 23 ng/dl (normal 3 to 82) and less than 4 ng/dl (normal less than 10), respectively. Cytogenetic analysis of peripheral blood revealed a 45X karyotype in all 30 dividing cells studied. Because of the finding of virilization, fluorescence in situ hybridization (FISH) studies with probes for the X and Y centromeres were performed on 200 interphase peripheral blood cells. All cells demonstrated 1 X signal and no Y signal, eliminating a diagnosis of Y mosaicism in the peripheral blood. A FISH study for SRY gene was also performed on 10 dividing cells from the peripheral blood, with no SRY signal detected. Controls were run in parallel and showed normal signals for the probes. The patient underwent bilateral laparoscopic gonadectomy, right herniorrhaphy and clitoroplasty. Pathological examination of the right adnexa was consistent with a cryptorchid testis with interstitial fibrosis and seminiferous tubules, epididymal tissue and a fallopian tube (fig. 2). The left adnexa consisted of fibrous connective tissue stroma, embryonal wolffian tube remnants and focal tissue suggestive of a streak ovary. FISH studies for SRY gene and X and Y centromeres were performed on formalin fixed gonadal tissue but failed to detect any Y signals. Fifty interphase cells were analyzed for each probe with control studies performed in parallel. DISCUSSION