Members of two kindreds had mental deficiency and megalotestes. The familial occurrence suggests an X-linked recessive trait or autosomal-dominant trait with male sex limitation. The increased testicular size was apparently due to excess fluid content.
(JAMA 238:1646-1650, 1977)
Ruvalcaba RHA, Myhre SA, Roosen-Runge EC, Beckwith JB. X-Linked Mental Deficiency Megalotestes Syndrome. JAMA. 1977;238(15):1646–1650. doi:10.1001/jama.1977.03280160040025
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