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Sohval-Soffer syndrome

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.

References

  1. ↑ http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2108&Disease_Disease_Search_diseaseType=ORPHA&Disease_Disease_Search_diseaseGroup=2234&Disease%28s%29/group%20of%20diseases=Sohval-Soffer-syndrome&title=Sohval-Soffer-syndrome&search=Disease_Search_Simple

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