Treatment of precocious puberty in a female with Prader-Willi syndrome

Abstract

Prader-Willi syndrome (PWS) is characterized by neonatal hypotonia, hyperphagia, childhood obesity at an early age, short stature, varying degrees of mental deficiency, and hypogonadism. In PWS, puberty is usually delayed and fails to complete, with most females never having regular menstrual cycles. We report a female patient with uniparental disomy, who experienced precocious puberty with menarche at age 8 years. The patient was treated with luteinizing hormone releasing hormone (LHRH) analog, which suppressed pubertal development. From our search of the literature this is the first application of LHRH analog to a female PWS patient for precocious puberty. Use of LHRH analog along with recombinant human growth hormone (rhGH) permitted stature closer to target height. The clinical course of this patient with PWS underscores the need for individualized treatment.