Endocrine Abstracts

Introduction: Ataxia telangiectasia (AT) is a rare, genetic, primary immune deficiency disease characterised by immunodeficiency and neurological manifestations, with increased tendency to infection, malignancy, and autoimmune diseases. Both growth delay and endocrine abnormalities are occasionally reported in these patients.Aim: To study linear growth in relation to endocrine and immune functions in a cohort of children with AT.Pa...

Introduction: We evaluated glycemia and the iron status in patients with NT-SCD and 6 patients with TD- SCD by measuring serum ferritin level (SF), liver iron content (LIC), alanine transferase (ALT) and fasting blood glucose (FBG) over 5 years of follow up.Results: At the initial assessment, 16 adults with (age: 33±14 years), and six of TD-SCD (n=6, age =25±10 years) were studied. 6/16 of NT-SCD had SF > 500 μg/l, and 5/16 ha...

Chronic administration of L thyroxine to children with hypothyroidism may affect cardiovascular dynamics.Aim of the study: We measured the BP and heart rate (HR) of 25 randomly selected children with hypothyroidism in relation to their serum free T4, and TSH levels and thyroxine dose mg/kg. Methods: 25 randomly selected children with a mean age 9.6 +/- 4.5 years with the diagnosis of congenital or acquired hypothyroidism. They were...

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 ...

Introduction: In patients with β thalassemia major (TM) The interplay between liver siderosis and hepatitis C virus (HCV) infection may facilitates the progression to insulin resistance (IR) and diabetes mellitus (DM).Objectives: Many TM patients are infected with either HCV. Therefore, we aimed to explore if there is any association between DM and HCV-RNA positivity with different genotypes.Patients and methods: 148 TM patien...

GHD in adults (AGHD) is a clinical syndrome associated with lack of positive well-being, depressed mood, feelings of social isolation, decreased energy, alterations in body composition with reduced bone and muscle mass, diminished exercise performance, and cardiac capacity. These manifestations are also common in adults with beta-thalassemia major (BTM). Performing provocative testing in all patients is cumbersome and expensive. Many studies suggested that IGF1 may be used for...

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...

Objective: To evaluate semen parameters and measure serum FSH, LH, Testosterone (T) concentrations before and 6 weeks after i.v. (800–1200 mg elemental iron iron therapy in adults with iron deficiency anemia.Patients and methods: This study investigated 11 adults with iron deficiency anemia (IDA) aged 40±5 years, with full pubertal development (Tanner stage 5, eugonadal) and capacity to ejaculate. They had iron deficiency anemia mainly due to d...

Profound hypothyroidism leading to coma has not been reported in adolescents.Case presentation: A 13-year-old adolescent girl presented with coma. Mother reported fatigue, increased sleepiness, deterioration of school performance, apathy, secondary amenorrhea, change in voice, and weight gain for 5 months. No history of dyspnea, palpitations or chest pain, drug intake, trauma, or any systemic illness. No family history of endocrine disorders was reported...