Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Sohval-Soffer syndrome
Introduction
Synonyms and keywords: Male hypergonadotropic hypogonadism – intellectual deficit – skeletal anomalies
Overview
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
Epidemiology and Demographics
It has been described in two brothers.
Diagnosis
Diagnosis
Testicular biopsy
Testicular biopsy reveals germinal aplasia and complete seminiferous tubular fibrosis.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]