Central precocious puberty and growth hormone deficiency in a boy with Prader-Willi syndrome.
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.
Crinò
Antonino
A
Paediatric and Autoimmune Endocrine Diseases Unit, Bambino Gesù Children's Hospital, Research Institute, Via Torre di Palidoro, 00050 Palidoro, Rome, Italy. crino@opbg.net
Di Giorgio
Girolamo
G
Schiaffini
Riccardo
R
Fierabracci
Alessandra
A
Spera
Sabrina
S
Maggioni
Andrea
A
Gattinara
Guido Castelli
GC
D002648:Child; D004359:Drug Therapy, Combination; D007987:Gonadotropin-Releasing Hormone / Q000031:analogs & derivatives; D019382:Human Growth Hormone / Q000172:deficiency* / Q000627:therapeutic use; D006801:Humans; D007006:Hypogonadism / Q000188:drug therapy / Q000209:etiology*; D007027:Hypothalamic Diseases / Q000150:complications* / Q000188:drug therapy; D008297:Male; D011218:Prader-Willi Syndrome / Q000150:complications* / Q000188:drug therapy; D011629:Puberty, Precocious / Q000188:drug therapy / Q000209:etiology*; D016896:Treatment Outcome
D019382:Human Growth Hormone; D007987:Gonadotropin-Releasing Hormone