ESPE Abstracts

Objective: To evaluate thyroid hormones and antibodies, vitamins B12 and D levels, ferritin levels, adrenal and gonadal steroid levels in children diagnosed with ADHD and ASD.Material method: Patients between the ages of 2–18 years followed-up with the diagnosis of ADHD and ASD in the Van region were included in this study. The weights and heights of the patients were recorded and then the blood samples were obtained between 0800 and 0900 h. in the ...

Background: Thalassemia major is a hemoglobin disorder characterized by regular transfusion requirement. Despite the regular transfusions and advanced iron chelation protocols, endocrine complications have been reported as the frequent morbidities of the disease.Objective and hypotheses: The aim of the study was to i) investigate the prevalence of endocrine complications, ii) to examine the relationship between endocrine complications and metabolic param...

Background: Cystic fibrosis is an autosomal recessive genetic disorder affecting typically the lungs, the pancreas, the gastrointestinal tract and tissues that produce mucus secretion, such as sweat glands. Impaired glucose tolerance and cystic fibrosis-related diabetes are the most common complications of cystic fibrosis. Cystic fibrosis-related diabetes is another type of diabetes mellitus and carries some of the characteristics of type1 and type2 diabetes.<p class="abst...

Background: Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH) is characterized by utero-vaginal atresia in patients with a normal female phenotype and 46, XX karyotype. Various anomalies may accompany MRKH. The number of cases with accompanying hyperandrogenemia is limited.Case presentation: We describe a combination of Mullerian agenesis and hyperandrogenemia (total testosterone level 0.85 ng/ml) in a patient presenting with primary amenorrhea and mild hir...

Pseudohypodosteronism type 1 (PHA-1) is an inherited disease caused by the resistance of peripheral tissues to aldosterone, leading to severe salt loss in infants. This rare disease is caused by mutations in the amiloride-sensitive epithelial sodium channel subunits (ENaCs). Loss-of-function mutations in ENaCs lead to PHA-1, which is associated with neonatal salt wasting. PHA1 can be transmitted as autosomal dominant and recessive forms. Patients with the autosomal dominant fo...

Neonatal hypoglycemia is the most common endocrine abnormality in children, which is associated with increased morbidity and mortality. The burden and risk factors of neonatal hypoglycemia in Qatar are suggested to be high because of the high prevalence of gestational diabetes.Objective: To determine the incidence of neonatal hypoglycemia in Qatar in relation to the etiology (infants of diabetic mothers (IDM) vs infants of nondiabetic mo...

Background: A galactocele is a retention cyst containing milk or a milky substance that is usually located in the mammary glands caused by a protein plug that block off the outlet. It is seen in lactating women on cessation of lactation and rarely in infants and children. It presents as a large, soft, fluctuating lump in the lower part of breast. This paper is intended to report a case of Galactocele in one of the paediatric patient.Case presentation: Ga...

We report a large family with several cases of 46 XY and a new mutation in the 17-β-HSD3 gene.The proposita was an 11-year-old girl and the first child of a consanguineous family. She was born by cesarean section with a height of 52 cm and a weight of 4200 grams. The external genitalia were completely female and had a short vaginal pouch. She had palpable gonads in her inguinal area and underwent bilateral gonadectomy at the age of two. Other physical examinations were n...

Introduction: Primary growth hormone resistance or growth hormone insensitivity syndrome (Laron syndrome) is an autosomal recessive disorder caused by deletions or mutations in the growth hormone receptor gene or by post receptor defects. Laron is characterized by a clinical appearance of sever growth hormone deficiency with high levels of growth hormone in contrast to low insulin-like growth factor 1 values and in this cases are refractory to both endogenous ...

Context: Thyroid growth and insulin like growth factor-1 (IGF-1) change depending on pubertal status and body mass index (BMI). The previous studies have reported some inconsistent results on association between thyroid volume (TV) and IGF-1 in terms of puberty and obesity.Objective: The aim of present study is to investigate pubertal effect of on TV and IGF-1 in morbid obese children.Design: The study population consisted of 250 c...