In
Prader-Willi syndrome (PWS) hypothalamic dysfunction is the cause of hormonal disturbances, such as
growth hormone deficiency (GHD),
hypogonadism, and delayed or incomplete puberty. Only a few cases of
central precocious puberty (
CPP) have been reported. We describe an 8.8-year-old PWS boy, with microdeletion of chromosome 15q, who developed
CPP. On admission, height was 131.1 cm (+0.17 SD), BMI 26.2 kg/m(2), pubic hair (Ph) 2, and testis 4.5 ml. We found increased growth velocity (7 cm/year), high
testosterone levels, pubertal response to
GnRH test, and advanced bone age (10.6 years). An evaluation of
growth hormone (GH) secretion revealed a deficiency. Pituitary MRI was normal.
LHRH analogue
therapy (Leuproreline 3.75 mg/28 days i.m.) was started at 8.9 years and discontinued at 11.3 years, when the patient had bone age of 13 years. During
therapy, growth velocity,
testosterone, FSH, and LH peak decreased significantly, with no pubertal progression.
Growth hormone therapy (0.24 mg/kg/week) was started at 9.5 years and discontinued at 15.3 years because the patient had bone age of 17 years. After interrupting
LHRH therapy the patient demonstrated spontaneous pubertal progression with pubertal
gonadotropin and
testosterone. At 16.3 years, height was 170 cm (-0.48 SDS), BMI 36.3 kg/m(2), Ph 4, testis volume 10 ml and there was a combined hypothalamic and peripheral
hypogonadism hormonal pattern (normal LH even with low
testosterone and undetectable
inhibin B with high FSH). To our knowledge this is the fourth male patient with genetically-confirmed PWS demonstrating
CPP and GHD and the first with a long follow-up to young adulthood.