Endocrine Abstracts

: Dicentric Y chromosome [idic(Y)] is the most common structural abnormality of this chromosome, and generally results from altered meiotic breakage and reunion of sister chromatids. Since this rearrangement is unstable, idic(Y) may be lost in subsequent cell cycles, resulting in a mosaic 45,X cell line. Variable are the phenotype and gonads (from streak gonads to ovotestes or dysgenetic testes). Few cases of 45,X/46,X,idic(Y) male pseudohermaphroditism with testes have been reported. We report the case of a 26-yr-old 45,X/46,X,idic(Y) male born at 38 weeks’ uncomplicated gestation who consulted us for infertility. At 3 years, he presented with cryptorchidism, micropenis and scrotal hypospadias. Congenital adrenal hyperplasia was excluded (17OH-progesterone 0.7 ng/ml, testosterone <20 ng/ml). Scrotal ultrasound revealed the absence of the right testis (RT). RT was eventually found in the pelvis, where uterus and ovaries were absent. Hypospadias repair was performed. The undescended RT, which histologically was described as testicular tissue with fibrosis, was surgically fastened inside the scrotum. At age 26, the patient was slightly overweight (BMI 25.8 kg/sqm), with a male phenotype, normal androgenization and no gynecomastia. He had a satisfactorily engagement with her partner. The RT was hardly palpable, while the left testis was reduced in volume and consistency. At ultrasound, RT was atrophic (1.4 ml), while the left was 10 ml, and both had a hypoechoic and inhomogeneous texture. FSH, androstenedione and 17OH-progesterone were high (30 mU/ml, 4.1 and 3.4 ng/ml), LH high-normal (9.6 mU/ml), total testosterone low-normal (348 ng/dl), and calculated free-testosterone low (6.1 ng/ml). The response of 17OH-progesterone after cosyntropin stimulation was normal. E2, progesterone, and SHBG were within the female reference range (53 pg/ml, 3.4 ng/ml, and 37.7 nmol/L). Azoospermia was detected at semen analysis. Considering the risk of malignancies within the dysgenetic gonad (10–15%), we advised right gonadectomy.