Precocious Puberty in Tay-Sachs Disease

Various neurologic causes of sexual precocity have been reported. Among these have been destructive pineal tumors (6,l9,25), hamartomas or hyperplasia of the tuber cinereum (8,14,31), hypothalamic tumors (34,36,40,48,53), tumors of the optic chiasm (12), encephalitis (16), miliary tuberculosis and tuberous sclerosis (55), the Sturge-Weber syndrome, porencephalic cysts, brain damage, craniostenosis, microcephaly, arrested hydrocephalus, and so-called idiopathic cases in which non-specific, but grossly abnormal electroencephalograms have been found (27). In addition, at this institution it has been noted that children with Tay-Sachs disease not uncommonly manifest premature thelarche and/or pubarche (unpublished observations). In an effort to elucidate the pathogenesis of these complete and incomplete forms of precocious puberty, as well as to detect any other hitherto nsuspected hormonal abnormalities, detailed endocrine evaluations of 2 female children with Tay-Sachs disease were carried out.