The Italian National Survey for Prader-Willi syndrome: an epidemiologic study.

Twenty-five medical centers and the Prader-Willi Syndrome (PWS) Association collaborated on a study which attempted to identify all people with genetically confirmed diagnosis of PWS living in Italy. Investigators of the participating centers contacted PWS subjects and/or their family, filled in a specially developed form with the required data and forwarded this information by email. The study identified 425 subjects (209 males and 216 females, between the ages of 0.

Body composition during GH treatment in Prader-Labhardt-Willi syndrome.

Prader-Labhardt-Willi syndrome (PLWS) is a model to study GH secretion, body composition and consequences of GH therapy. Twenty-seven patients were studied by dual-energy X-ray absorptiometry (DXA) and were each compared to two age- and sex-matched controls (obese and normal weight). Fat mass (FM) was significantly greater in PLWS than in patients with simple obesity; lean body mass (LM) and bone mineral content (BMC) were significantly lower compared to both controls.

Impairment of growth hormone responsiveness to growth hormone releasing hormone and pyridostigmine in patients affected by Prader-Labhardt-Willi syndrome.

In order to evaluate the impairment of GH response in patients affected by Prader-Labhardt-Willi (PLW) syndrome, in 18 patients we studied GH response to clonidine and to GHRH + pyridostigmine, a cholinergic drug which enhances GHRH induced GH responsiveness in obese patients. After clonidine GH response was abnormal in 14/18 subjects (mean GH peak: 4.1 +/- 1.

GH secretion in Prader-Labhard-Willi syndrome: somatotrope responsiveness to GHRH is enhanced by arginine but not by pyridostigmine.

Low somatotrope responsiveness to secretagogues has been reported in patients affected by Prader-Labhard-Willi Syndrome (PLWS). In normal subjects, GH response to GHRH is known to be greatly potentiated to the same extent by pyridostigmine (PD) or arginine (ARG) which probably act via inhibition of hypothalamic somatostatin release. To clarify somatotrope responsiveness in 7 PLWS patients, we studied GH response to GHRH alone and to GHRH combined with PD or ARG.