Effects of growth hormone on muscle strength, tone and mobility of children with Prader-Willi syndrome

Prader-Willi Syndrome [PWS] is a genetic syndrome presenting with severe hypotonia and decreased agility. Growth Hormone [GH], which is often used in these patients to treat short stature and obesity, seems improve hypotonia, physical strength, activity, and locomotor developmental ability. The aim of this study was to find the effects of growth hormone on agility and strength of these patients. In a prospective randomized controlled clinical trial in an out-patient pediatric endocrine clinic in Tehran, 21 PWS children [12 boys and 9 girls, 4 to 9 years old] were divided into either GH-treated or control groups and followed for two years. Agility run, sit ups, weight lifting, and inspiratory and expiratory strength were considered as the main outcome measures. All the outcome measures of the GH treated group showed a significant improvement compared to the control group. GH causes a significant improvement in agility and strength of PWS children

Wolfram syndrome: endocrinological features in a case series study and review of the literature

Wolfram syndrome [WFS] is a rare and complex genetic disorder referred to as DIDMOAD [diabetes insipidus, diabetes mellitus, optic atrophy and deafness]. All insulin dependent diabetic patients presented over a period of 10 years, who had optic atrophy or a positive family history of WFS, were enrolled in the study. Criteria for the diagnosis of WFS were the presence of insulin dependent diabetes mellitus [IDDM] along with optic atrophy unexplained by any other disease and/or some other abnormalities associated with WFS. WFS has been diagnosed in sixteen patients, 9 males and 7 females aged 5.5 to 22yr [median age of 13.4 yr]. Nine patients [more than half] came from consanguineous marriages. The earliest manifestation of WFS was IDDM [at a median age of 5.4yrs]. All patients developed non-autoimmune IDDM before the age of 8 years old. Only two cases were ketoacidotic. Common diabetic complications of proliferative retinopathy, glomerulosclerosis and neuropathy were remarkably absent in our patients even with long-lasting diabetes mellitus. Antidiuretic hormone [ADH]-responsive diabetes insipidus was confirmed by water deprivation test in 8 patients [50%]. The incidence of diabetes insipidus in our patients was lower compared to other studies. Growth retardation, as short stature and a weight below the 5th percentile for age and gender, was found in 13 [81%] and 5 [31%] patients respectively. Early diagnosis and proper treatment aimed at relieving the symptoms and preventing the future complications are of paramount value and importance