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Variation in the Timing of Puberty: Clinical Spectrum and Genetic Investigation

Division of Endocrinology, Department of Medicine (M.R.P.), Children’s Hospital, Boston, Massachusetts 02115; and Reproductive Endocrine Unit (M.R.P., P.A.B.) and Pediatric Endocrine Unit (P.A.B.), Massachusetts General Hospital, Boston, Massachusetts 02114

Address correspondence and requests for reprints to: Paul A. Boepple, M.D., Reproductive Endocrine Unit, Bartlett Hall Extension 5, Massachusetts General Hospital, Fruit Street, Boston, Massachusetts 02114.

Abstract

Human puberty begins with the reemergence of GnRH secretion from its relative quiescence during childhood, activating a cascade of pituitary-gonadal maturation. This transition begins across a wide range of ages, and the rate of subsequent sexual maturation can be quite varied. The factors that regulate the hypothalamic-pituitary-gonadal axis and modulate the timing of puberty remain elusive, but it is clear that some regulation is under genetic control. Here, we discuss how new advances in genetic research may provide the tools to help unravel this long-standing mystery.

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