Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome

This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.

Epidemiology

It has been described in two brothers.

Clinical description

Testicular biopsy revealed germinal aplasia and complete seminiferous tubular fibrosis.