[Hormonal and genetic causes of cryptorchidism].

Cryptorchidism is the most frequent congenital disorders of the reproductive system, is present in 2-3% of term newborn boys. Genes involved in embryonic testicular migration are known but their role in cryptorchidism development are not investigated enough. Genetical causes of cryptorchidism are identified in 5-7% of patients. The article contains data on the role of insulin-like peptide 3 and its receptor, anti-Müllerian hormone, gonadotropins, androgens in embryonic testicular migration. INSL3 and AMH are presented as markers of testicular dysfunction associated with cryptorchidism. Hypogonadotropic hypogonadism is also associated with cryptorchidism and can be diagnosed based on it. Results of modern investigations determine the necessary of hormonal and genetical examination of patients with isolated cryptorchidism to detect causes of cryptorchidism and manage of patients.

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

BACKGROUND: Cryptorchidism is associated with the risk of infertility and can be a symptom of congenital sexual maldevelopment. AIM: 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. METHODS: 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. RESULTS: 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. CONCLUSION: Hormonal testing of patients with bilateral inguinal cryptorchidism during minipuberty makes it possible to early detect the congenital sexual maldevelopment.

[Delayed sexual development in boys].

This paper presents results of examination of 59 boys aged from 14 to 16 years with delayed sexual development (DSP). All children were allocated to 3 groups depending on specific clinical features of the disorder. Group 1 comprised boys (n = 20) with retardation of growth and sexual development, group 2 (n = 14) boys with DSP and cryptorchidism, group 3 (n = 25) boys with DSP and obesity. The examination included evaluation of the patients' physical and pubertal development, measurement of serum sex hormones, and difereline stimulation test. Constitutional form of DSP was diagnosed in 90% of the boys in group 1. Hypogonadotropic hypogonadism occurred in 42.8% of the patients in group 2, and boys of group 3 suffered DSP etiologically associated with excessive body weight. It is concluded that correlation between clinical and hormonal characteristics of the examined boys reflects the cause behind DSP.