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.

Epidemiology and Demographics

It has been described in two brothers.

Diagnosis

Testicular biopsy

Testicular biopsy revealed germinal aplasia and complete seminiferous tubular fibrosis.