Abstract
A 4-month-old phenotypic male with persistent mullerian duct syndrome (PMDS) is described. Serum levels of mullerian inhibiting substance (MIS) were undetectable in an enzyme immunoassay, consistent with a in an MIS gene. Normal germ cells were present in the testis, suggesting that subsequent azoospermia found in other patients with this abnormality is caused by a postnatal defect in germ cell development after 4 months of age. The testes were not attached by normal male gubernacula, but were loosely anchored by a long “round ligament” to the inguinal region. Failure of masculinasation of the gubernaculum in this syndrome suggests that MIS is responsible for early gubernacular development, and hence may have a role in testicular descent.
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