Sohval-Soffer syndrome: Difference between revisions
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Created page with "{{SI}} __NOTOC__ {{CMG}} {{SK}} Male hypergonadotropic hypogonadism - intellectual deficit - skeletal anomalies ==Overview== This syndrome is characterized by [[hypergonadotr..." |
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{{SI}} | {{SI}} | ||
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It has been described in two brothers. | It has been described in two brothers. | ||
==Diagnosis== | ==Diagnosis== | ||
===Testicular biopsy== | ===Testicular biopsy=== | ||
Testicular biopsy | Testicular biopsy reveals germinal [[aplasia]] and complete [[seminiferous tubule|seminiferous tubular]] fibrosis. | ||
==References== | ==References== | ||
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{{WH}} | {{WH}} | ||
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[[Category:Disease]] | |||
Latest revision as of 00:13, 30 July 2012
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.