Vanishing testis syndrome leads to hypergonadotropic hypogonadism. We report the case of a 28-years-old patient, who was diagnosed with bilateral cryptorchidism and phymosis at birth. At one, three and seven years-of-age orchidopexy was unsuccessfull to find testicular tissue. Meanwhile one cure of human chorionic gonadotropin (hCG) therapy was applied, without success. Endocrine investigation was continued just in 2011, at 24 years-of-age, when infantile external male genitalia without male secondary sexual characters were recorded. Surprisingly, low free testosterone level (1.64 pg/ml, normal: 5.542) with very reduced LH (0.13 mIU/ml) and FSH (0.7 mIU/ml) were detected, with normal hypothalamic-pituitary system on MRI. Abdominal and pelvic MRI detected hypoplastic prostate and seminal vesicles, the gonads were not found. The karyotype is 46,XY. Because of a reduced compliance the boy returned to endocrinology evaluation just in February 2016 with intense hypogastric pain. The urological exam diagnosed a severe phymosis with chronic incomplete urinary retention and frequent urinary infections. After circumcision was performed, urinary complains ceased. Hormonal assessment: TSH: 1.23 mIU/l, free-T4: 1.10 ng/dl (0.71.48), basic morning cortisolaemia: 12.8 μg/dl, PRL: 5.46 ng/ml, LH: 0.03 mIU/ml, FSH: 0.13 mIU/ml, Total testosterone: 37.3 ng/ml (142.39923.1), Free-testosterone: 0.15 ng/ml, SHBG: 20.8 nmol/l (13.571.4), DHEAS: 370.5 μg/dl (167.9591.9), Androstenedione (1.92 ng/ml, normal: 0.63.1), AMH: 2 ng/ml (1.4311.6). Repeated total testosterone (0.26 ng/ml, normal: 2.418.27) and dihydrotestosterone (DHT: 67 ng/l, normal: 2501000) at baseline were almost undetectable, without any response to hCG stimulation (1500 IU/m2): stimulated total testosterone 0.30 ng/ml and DHT 61 ng/l. This confirmed a bilateral anorchia, but associated with hypogonadotropic hypogonadism. Replacement therapy with testosterone undecanoate im. was recommended.
Conclusion: We report a case with bilateral anorchia associated with deficient secretion of gonadotropines. The occasional coexistence of correlation of these two etiologies need to be studied, in the literature have not been reported such case.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology