July - September 2013, Volume 9, Issue 3

Braha E, Sireteanu A., Vulpoi C., Gorduza C., Branisteanu D., Popescu R., Badiu C., Rusu C

Clinical and Endocrine Aspects of Five Prader Willi Patients

Acta Endo (Buc) 2013, 9 (3): 455-466
doi: 10.4183/aeb.2013.455

Prader Willi syndrome is a complex disease caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11.2-q13. Typical clinical features are hypotonia and feeding difficulties in infancy, followed by hyperphagia and progressive obesity, distinctive dysmorphic features, intellectual disability and behavioural problems. In this paper we present clinical, metabolic and endocrine aspects in five genetically confirmed patients with PWS. Data about thyroid dysfunction, GH deficiency, adrenal insufficiency, and LH/FSH disorder caused by hypothalamic dysfunction in PWS were collected and analyzed. Cardiovascular metabolic profile was also assessed, based on plasma lipids, blood glucose, HbA1c values, and measurements of body weight and blood pressure. Clinical features present in all our patients were marked hypotonia and feeding difficulties in infancy, obesity, dysmorphic face, viscous saliva, small hands and feet, intellectual disability and characteristic behaviour. Adrenal function appeared to be normal in all patients; mild hypothyroidism was identified in one patient; sex development abnormalities were present in three patients and GH levels were within lower normal range in all patients. GH therapy was initiated in two patients, both with unevolutive skeletal anomalies, with good results and no side-effects. Only one patient had a normal lipid profile, underlying the importance of early detection and treatment of cardiovascular risk factors. Our study also illustrates the challenges raised by some features very rarely described in PWS (Blount disease and multiple allergies).

Keywords: Prader Willi syndrome, hypothalamic - pituitary insufficiency, GH therapy, Blount disease, multiple allergies.

Correspondence: Adriana Sireteanu MD, 16th Universitatii Street, Iasi, 700115, Romania, E-mail: adryas@gmail.com