The purpose of this overview is to:
To describe the clinical characteristics of nonsyndromic disorders of testicular development;
To review the genetic causes of nonsyndromic disorders of testicular development and conditions that may be in the differential diagnosis;
To provide an evaluation strategy to identify the genetic cause of nonsyndromic disorders of testicular development (when possible);
To inform management regarding sex of rearing, medical/surgical intervention (when appropriate), hormone therapy, and psychosocial aspects of care;
To inform genetic risk assessment in family members of a proband.
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