Двусторонний крипторхизм как клинический маркер ранней диагностики врожденного дефицита гонадотропных гормонов: клинические наблюдения

Abstract

Bilateral cryptorchidism is a common symptom of congenital gonadotropin deficiency. Detection of congenital hypogonadotropic hypogonadism (CHH) at an early age is important for preventing the long delayed puberty and timely initiation of therapy. The purpose — to identify СHH in boys with bilateral cryptorchidism based on hormonal examinations during mini-puberty. Material and methods. We present five clinical cases of patients with bilateral cryptorchidism, with CHH diagnosed in mini-puberty. The examination of 1–6 months old boys included tests of serum LH, FSH, testosterone, anti-Müllerian hormone (AMH), and inhibin B. To assess the pituitary gonadotropic function, a test with a Gn-RH analogue was performed. Patients with established CHH underwent molecular genetic testing. Results. The basis for СHH identification were the low serum concentrations of gonadotropins, AMH, testosterone, and inhibin B in boys with bilateral cryptorchidism during mini-puberty. Mutations in the FGF8 and SPRY4 genes associated with CHH were detected in 2 patients. CHH as part of hypopituitarism was revealed in 2 boys. Conclusions. Hormonal examination of boys with bilateral cryptorchidism during mini-puberty allows establishing gonadotropin deficiency at an early age, to carry out a long-term control for patients, and to begin treatment timely. Hormonal examination during mini-puberty can be the basis for diagnosing both isolated CHH and congenital hypopituitarism.