Van Buchem Syndrome

Van Buchem's syndrome is a rare autosomal dominant hereditary disease characterized by disproportionate growth of testicular tissue due to the proliferation of connective tissue in the gonads. The syndrome is based on an increase in the number of cells of mesenchymal origin in the testes and, probably, other tissue development abnormalities associated with a mutation in the TMEM125 gene. Van Buchem is considered one of the most striking examples of modern pathology of human gonads and is the subject of numerous studies in various areas of medicine and biology. Symptoms of damage to the male reproductive system: unilateral increase in the volume of the scrotum without thickening of its wall, decreased elasticity, stiffness of all testicular membranes, atrophic changes in the gland and appendage, delayed puberty, symptoms of immaturity of the external genitalia, infertility. The only treatment for the syndrome in children is castration, since surgery does not improve the patient's condition. Van Buchemy syndrome is a complex and insufficiently studied pathology, which requires