hrp0095p1-199 | Thyroid | ESPE2022

Thyroid Hormone Receptor Resistance Alpha: Case Report

Solmaz Nihan , Kınalı Çetin Yasemin , Kayhan Gülsüm , Döğer Esra , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: Thyroid hormone resistance (THR) is a syndrome characterized by decreased response to thyroid hormones in target tissues. Thyroid hormone receptor resistance alpha (THRRα) is an autosomal dominant inherited disease that is characterized by near-normal thyroid function tests (TFT) and tissue-specific hypothyroidism, and is likely to be missed in practice.Case: 10-month-old male patient was referred to ...

hrp0092p1-351 | Fat, Metabolism and Obesity (2) | ESPE2019

Congenital Generalized Lipodystrophy Type 4 - New Mutation in the CAVIN1 Gene

Döger Esra , Sezer Abdullah , Ugurlu Aylin Kilinç , Akbas Emine Demet , Perçin Ferda , Bideci Aysun , Çamurdan Orhun , Cinaz Peyami

Introduction: Congenital generalized lipodystrophies (CGL); autosomal recessive disorders characterized by dyslipidemia and almost complete absence of body fat associated with insulin resistance. It develops due to mutations in AGPAT2, BSCL2, CAV1, PTRF, PCYT1A and PPAR, genes.CGL type 4 results from PTRF-CAVIN gene mutation. Unlike classical CGL, myopathy, flat and skeletal muscle hypertrophy, heart rhythm disorders (sudden death) and skeletal abnormalities a...

hrp0092p2-44 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Cinacalcet Experience in Hypercalcemia Due to CaSR Mutation

Döger Esra , Akbas Emine Demet , Kilinç Ugurlu Aylin , Küpçü Zekiye , Bideci Aysun , Çamurdan Orhun , Cinaz Peyami

Introduction: Heterozygous inactivating mutations of the CaSR gene (CaSR) generally result in mild, asymptomatic hypercalcemia in the familial hypocalcuric hypercalcemia syndrome. Homozygous inactivating CaSR mutations end up with neonatal severe hyperparathyroidism. Calcimimetics are drugs that interact with the transmembrane part of CaSR and make the receptor more sensitive to calcium. Cinacalcet, a type II calcimimetic, suppresses PTH levels and increases r...

hrp0089p2-p059 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

Arthrogryposis Multiplex Congenita Type II and Panhypopituitarism

Bideci Aysun , Doğer Esra , Kılınc Uğurlu Aylin , Demet Akbaş Emine , Camurdan Orhun , Cinaz Peyami

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...

hrp0089p3-p042 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Pseudoachondroplasia

Doğer Esra , Bideci Aysun , Boyunağa Oznur , Kılınc Uğurlu Aylin , Demet Akbaş Emine , Camurdan Orhun , Cinaz Peyami

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...

hrp0089p2-p101 | Diabetes &amp; Insulin P2 | ESPE2018

The Levels of Blood Glucose and Counting of Carbohydrate-Fat-Protein in Diabetic Children Using Pump with Aspart and Glulisine

Doğer Esra , Bozbulut Rukiye , Ercan Şebnem , Kılınc Uğurlu Aylin , Demet Akbaş Emine , Bideci Aysun , Camurdan Orhun , Cinaz Peyami

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...

hrp0089p3-p091 | Diabetes &amp; Insulin P3 | ESPE2018

Clinical and Epidemiological Features of Children with Type 1 Diabetes

Demir Şule , Cinaz Peyami , Doğer Esra , Kılınc Uğurlu Aylin , Demet Akbaş Emine , Bideci Aysun , Camurdan Orhun

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...

hrp0089p2-p386 | Thyroid P2 | ESPE2018

Triac Treatment Response to Thyroid Hormone Resistantance

Cinaz Peyami , Uğurlu Aylin Kılınc , Doğer Esra , Akbaş Emine Demet , Bideci Aysun , Camurdan Orhun

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...

hrp0089p3-p366 | Thyroid P3 | ESPE2018

Clinical Features in Childhood Graves’ Disease

Kılınc Uğurlu Aylin , Doğer Esra , Demet Akbaş Emine , Bideci Aysun , Camurdan Orhun , Cinaz Peyami

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...

hrp0086p2-p770 | Pituitary and Neuroendocrinology P2 | ESPE2016

Postoperative Water and Electrolyte Disorders and Affecting Factors in Children with Intracranial Tumors

Akbas Emıne Demet , Doger Esra , Ugurlu Aylın Kılınc , Bıdecı Aysun , Camurdan Orhun , Cınaz Peyamı

Introduction: Water and electrolyte disorders due to anterior and posterior pituitary deficiencies are common in children which are referred with intracranial tumors, especially arising from suprasellar and pituitary regions. But the prevelance and affecting factors of these disorders are not clear. We aimed that to determine the prevelance of postoperative water and electrolyte disorders and affecting factors in pediatric patients with intracranial tumors.<p class="abstex...