Sohval-Soffer syndrome
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies
Overview
This syndrome is characterized by hypergonadotropic hypogonadism, intellectual deficit, congenital skeletal anomalies involving the cervical spine and superior ribs, and diabetes mellitus.[1]
Epidemiology and Demographics
It has been described in two brothers.
Diagnosis
Testicular biopsy
Testicular biopsy reveals germinal aplasia and complete seminiferous tubular fibrosis.