Diagnosis of congenital sexual maldevelopment in boys with bilateral inguinal cryptorchidism during minipuberty

Abstract

Cryptorchidism is associated with the risk of infertility and can be a symptom of congenital sexual maldevelopment. To assess the functional status of the pituitary gland and sexual glands in boys aged 16 months with bilateral inguinal cryptorchidism and to reveal the congenital sexual maldevelopment during minipuberty. Twenty-one boys aged 16 months (the minipuberty period) with isolated bilateral inguinal cryptorchidism and 40 healthy boys aged 23 months (the control group) were examined. The gonadal status was assessed and serum levels of sex hormones were measured. Molecular genetic testing was performed if there were indications for it. The results of hormone analysis were used to divide the patients into three groups: group 1 patients with normal serum levels of gonadotropin and sex hormones; group 2 patients with elevated gonadotropin level and low levels of anti-Mllerian hormone (AMH) and inhibin B, and group 3 patients with zero gonadotropin and testosterone levels and low levels of AMH and inhibin B. Group 1 patients had no functional disturbances in the pituitarygonadal system. Failure of Sertoli cells associated with a high risk of infertility was detected in group 2 patients. Group 3 patients were diagnosed with hypogonadotropic hypogonadism verified by molecular genetic tests. Hormonal testing of patients with bilateral inguinal cryptorchidism during minipuberty makes it possible to early detect the congenital sexual maldevelopment.