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Hirsch HJ et al. - Pubertal development in PWS is characterized by normal adrenarche, variable hypothalamic dysfunction, and hypogonadism due to a unique testicular defect. Primary testicular dysfunction is a major component of hypogonadism in PWS.

Exclusive Author Commentary
Harry J. Hirsch, 05/11/09

In this article we describe pubertal development in a cross-sectional population of Prader-Willi Syndrome (PWS) males from infancy through adulthood. We emphasize that the expression of hypogonadism in PWS males is variable, including one boy with precocious puberty and another with precocious adrenarche. Although hypogonadism in PWS has often been attributed to a hypothalamic defect, our findings show that hypogonadotropic hypogonadism is relatively rare.  Elevated FSH and markedly low or undetectable inhibin B levels are strong evidence for a primary testicular defect. We hope that our description of clinical signs of puberty and hormonal profiles will be helpful to clinicians in evaluating PWS boys and may provide a basis for developing guidelines for appropriate hormonal replacement.


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