Sohval-Soffer syndrome: Difference between revisions

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==Diagnosis==
==Diagnosis==
===Testicular biopsy===
===Testicular biopsy===
Testicular biopsy revealed germinal aplasia and complete seminiferous tubular fibrosis.
Testicular biopsy reveals germinal [[aplasia]] and complete [[seminiferous tubule|seminiferous tubular]] fibrosis.


==References==
==References==

Latest revision as of 00:13, 30 July 2012

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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.

References

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