ESPE Abstracts

Aim: Arthrogryposis Multiplex Congenita type II is an autosomal dominant disease, characterized by multiple congenital contractures in the limbs without a primary neurological deficit. The most frequently observed clinical features are triangular face, palpebral fissures facing downwards, clarity in nasolabial folds, small mouth, high palate, adherent ear lobes, short stature, camptodactyly, ulnar deviations in the fingers, vertical talus and/or talipes equinovarus.<p clas...

Aim: Pseudoacondroplasia is a short extremity dwarfism characterized by lifelong arthralgia and early onset osteoarthritis. At birth there is a normal height and face appearance. At the beginning of walking, first symptom is a swaying walking nature. Typically, at second year of life, short height becomes apparent and leads to a disproportionate short-limb appearance. In childhood, joint pain in the broad joints especially in the lower extremities is common. Degenerative joint...

Introduction: In children with Type 1 diabetes, the insulin dose administered to, fasting blood sugar, the amount of food,contents and glycemic index can affect the postprandial blood sugar. Despite the intensive insulin therapy and carbohydrate (CHO) counting the expected improvements in glycemic control is not observed. Compared to other fast affecting analogues, Insulin glulisine has a faster onset of effect and a shorter duration. It has previously been reported that, in c...

Introduction: The world health organization has adopted diabetes as the most important health problem because of its increasing frequency and complications. Determination of changes in patient profile over the years due to type 1 diabetes (T1DM), the most common type of diabetes in childhood, is an important point in the follow up observation and treatment of diabetes.Aim: To determine the epidemiological and clinical characteristics of children and adol...

Aim: Resistance to thyroid hormone (RTH) is a disease characterized by decreased sensitivity to thyroid hormone in the peripheral tissues such as cell membrane, metabolism, or nuclear receptor. In THRB gene mutation induced RTH, the effect of T3 on TRβ mutant receptors in the liver and the pituitary decreased, on TRα receptors located in the brain and heart increased. Triac’s activity is similar to T3.Case: A 1-month-old girl patient was a...

Introduction: Hyperthyroidism is a disorder of the thyroid function in childhood that causes symptoms such as low school performance, headache, hyperactivity, palpitation, systolic hypertension, heat intolerance, diarrhea, weight loss inspite of tremendous appetite and tremor. Hyperthyroidism is very rare in childhood. Graves’ disease is responsible for 84% of pediatric cases and is the most common cause.Method: The demographic characteristics, refe...

Background: 3β-hydroxysteroid dehydrogenase (3βHSD) deficiency is a rare form of congenital adrenal hyperplasia (CAH) and caused by loss of function mutations in the HSD3B2 gene. In classic form, affected patients have salt wasting early in infancy and may have ambiguous genitalia in both sexes. Herein we report a nonvirilized female patient with classic form of 3βHSD deficiency due to homozygous S218P mutation in the HSD3B2 gene and classic phenylketonuria....

Objective: Subclinical hypothyroidism (SH) prevalence in the paediatric population is reported between 1.7 and 9.5%. Results of the adult studies on SH showed that long term SH had negative effects on atherosclerosis, dyslipidaemia, insulin resistance and cognitive functions. The decision about treatment of SH in paediatric patients is still a matter of debate. None of the consensus statements published about the management of SH addressed the issue of SH in the paediatric pop...

Introduction: Anti-thyroid arthritis syndrome (AAS) is a rare complication that may occur in patients treated with anti-thyroid drugs. Presentation is variable and may include myalgia, arthralgia, skin rash, high fever, and polyarthritis. Herein, we present a girl diagnosed with AAS. Case report: A 9-year-old girl was admitted to emergency complaining of fever and arthralgia. She was the second child of non-consanguineous healthy parents. She had been d...

Context: Steroid 17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol, and excessive mineralocorticoid action. The clinical symptoms of hypocortisolemia are subtle.Aim: The clinical, biochemical, and molecular characteristics of patients with 17OHD were evaluated to determine the factors influencing the time of diagnosis and the management.Pati...