Endocrine Abstracts

Prader-Willi is a complex genetic syndrome with characteristic phenotype, obesity, hyperphagia, and endocrine hypothalamic dysfunctions. We present particular features of a case with confirmed Prader Willi syndrome (PWS).

Case report: EP, only child of a young non-consanguine couple, was born in 1994 at 34 weeks of amenorrhoea, with a low Apgar score (7) and a weight of 2200 g. She presented important hypotonia in the first 6 weeks of life, needing gavage, development retardation, and onset of hyperphagia at the age of 1, with rapid and important weight gain. At 10 years old she presented high stature (+2 S.D), and important obesity (+10 S.D) with 34% total body fat (electrical impedance). Bone age concordant with the chronological age. She had the typical somatic aspect: narrow forehead, almond-shaped palpebral fissures, and acromicria. Besides incipient telarche (B2–3) she had no other puberty signs. Genetic examination: cariotype 46, XX, FISH test: del (15) (q11.2–q13). Important mental retardation (IQ=48). Biological investigations: normal thyroid and adrenal function, pre-pubertal values of oestradiol, concordant with gonadotropes values. Despite the height, GH was low (0.2 mcg/l), with insufficient stimulation to clonidine test (5.6 mcg/l), and low normal value of IGF1. The clinical and biological criteria for the PWS diagnosis were fulfilled, with a score of 10.5. A rigorous diet was started and the patient loosed 5 kg in 6 months.

Discussions: Short stature (- S.D) is common in PWS. Surprisingly, our patient presented high stature, despite the partial GH deficiency. Obesity can only partially explain patient’s height. GH treatment, recommended in PWS, remain controversial and probably unnecessary in this case.

Conclusion: In spite of some particular aspects, our case presented one of the main features of PWS, important obesity with compulsive food intake. Rigorous control of food intake has proved its efficacy.