Endocrine Abstracts

Introduction: Ataxia telangiectsia (AT) is a rare, genetic, primary immune deficiency disease characterized by immunodeficiency and neurological manifestations, with predisposition for infections, cancers, and autoimmune diseases. This case illustrates the affection of endocrine system in the form of hypothyroidism and hyper-gonadotrophic hypogonadism.Case Report: A 14-year-old girl presented to our clinics at Hamad General Hospital, with history of prog...

Introduction: Growth failure is the most frequent endocrine abnormality observed in patients with sickle-cell disease SCD. Decreased synthesis of IGF1 might be secondary to a disturbed GH–IGF1 axis and defective GH secretion has been reported in some patients. Infarction, atrophy, and hemorrhage may occur in the pituitary gland in SCD during or following the vaso-occlusive crisis.Objective: To define the possible abnormalities of pituitary gland in ...

Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in in the soft tissue in the periarticular location outside the joint capsule.Case report: This girl presented at the age of 10 years with swelling and pain in the right hip region. On examination a 10×10 cm hard, non-tender swelling wi...