Three 46,XY unrelated individuals out of 84 postpubertal male inpatients with severe mental deficiency in a psychiatric hospital were found to have megalorchidia and macrogenitosomia. One of the cases had a similarly affected brother. Endocrine studies were performed in two of the cases with similar results. Normal plasma levels of pituitary gonadotropins were found. A normal testicular function was demonstrated by the finding of normal: (a) baseline plasma testosterone levels and a significant rise following human chorionic gonadotropin administration, (b) sperm analysis, and (c) morphology and cell architecture of the testes. These results were compatible with normofunctional testicular hyperplasia confirming previous observations and allowing the definite individualization of a syndrome with mental deficiency probably due to an X-linked recessive mutation.

Free cytoplasmic estradiol receptor was determined in testicular biopsies from six adults showing various primary testicular disorders, and in testicular tissue obtained at autopsy from 18 males of various ages. Estradiol receptors were found in all cases examined. Receptor concentration varied during testicular maturation and from one patient to another. The presence of the receptor at an early stage of development and the changes observed in its concentration during testicular maturation and dysfunction support the idea that estradiol may play, through its receptor interaction, an important role in the regulation of testicular steroidogenesis during postnatal human development.

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