background: fanconi anemia (fa) is a rare, autosomal recessive (ar) and multifactorial disorder. a high prevalence of fa observed in iran is perhaps due to the high rate of consanguineous marriages. this study investigates the extent of short stature in patients with fa, the frequency of hypothyroidism in fa and the correlation between height and hypothyroidism.   methods: eighteen patients wit...

At present, factors that have been recognized as being able to influence growth are: nutritional, physical, chemical, psychological and genetic. The causes of short stature are numerous, with about 90% of cases classified as Idiopathic Short Stature and divided into 2 types familial short stature and constitutional short stature. Part of the population with growth disorders are SGA newborns (10...

A 24-year-old man presented with a history of palpitation and haemoptysis. He had short stature, cardiac anomalies physical deformities, including polydactyly, clubbing, cataracts cyanosis. Echocardiography was performed, revealing both atrial ventricular septal defects, along severe pulmonary hypertension Eisenmenger syndrome.

PURPOSE Short stature is a very common reason for visits to pediatric endocrine clinics. It could be the first sign of an underlying disease. The purpose of this study is to investigate the etiologies and general characteristics of subjects who visited an outpatient clinic due to short stature. METHODS We retrospectively reviewed the medical records of 3,371 patients who visited Severance Chi...

Growth hormone (GH) was first isolated from cadaver pituitary glands, requiring laborious and expensive collection of glands, followed by extraction and purification of the hormone. This limited supply restricted its use to children with severe GH deficiency who were treated with low dosages and suboptimal schedules. The development of recombinant DNA-derived GH, allowed the production of virtu...

BACKGROUND Mutations localized in the Growth Hormone Receptor (GHR) gene are often associated with the pathogenesis of Laron Syndrome, an autosomal recessive hereditary disorder characterized by severe growth retardation. Biochemically, patients present normal to high circulating GH levels, in presence of very low or undetectable IGF-I levels, which do not rise after rhGH treatment. CASE PRES...

BACKGROUND Patients with severe chronic heart failure seem to take shorter steps than healthy controls when walking on a treadmill and when walking freely along a corridor. In healthy individuals the pattern of walking affects the oxygen cost of exercise, and so this observation might be relevant to the limitation of exercise in heart failure. METHOD Length of stride was analysed as stride/st...

Several monogenic defects have been reported to be associated with idiopathic short stature. Focusing on growth hormone receptor (GHR)-gene alterations, the heterozygosity of the same gene defect may be associated with a range of growth deficits. We found a heterozygous mutation (V144I) within exon 6 of the GHR gene in a patient with a low level of insulin-like growth factor I (IGF-I), normal l...