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-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...

hrp0089p2-p300 | Multisystem Endocrine Disorders P2 | ESPE2018

Somatostatin Experiment in Prohormone Convertase Deficiency

Eğritaş Odul , Uğurlu Aylin Kılınc , Doğer Esra , Demet Akbaş Emine , Bideci Aysun , Dalgıc Buket , Camurdan Orhun , Cinaz Peyami

Introduction: Prohormone convertase (PC) is a calcium-dependent serine endoprotease. PC 1/3 is responsible for converting hormones and neuropeptitids which has role on energy homeostasis, food intake,glucose metabolism (a-MSH, CART, NPY, AgRP, Orexin, Hypocretin, Ghrelin, insulin, cholecystokinin, GLP-1, GHRH, GnRH, ACTH, TRH) from proforms to active form. PC 1/3 deficiency’s clinical signs are diarrhea that started in the newborn period, obesity, hypoglycemia, multiple ...

hrp0086p2-p70 | Adrenal P2 | ESPE2016

Vitamin D Insufficiency is Related to Premature Adrenarche

Akin Onur , Doğer Esra , Bideci Aysun , Akbaş Emine Demet , Uğurlu Aylin Kılınc , Yavuz Suleyman Tolga , Elbeğ Şehri , Camurdan Orhun , Cinaz Peyami

Background: Vitamin D, mainly important in calcium phosphate homeostasis and bone health, has been recently suggested as an important factor in pathogenesis of numerous chronic conditions such as type 2 diabetes, metabolic syndrome and polycystic ovarian syndrome (PCOS).Objective and hypotheses: The aim of this study is to investigate the relation between PCOS and premature adrenarche (PA), suggested as predictor of PCOS.Method: A ...

hrp0092p1-103 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

A Case of Panhipopituitarism with SOX3 Gene Deletion

Cinaz Peyami , Kayhan Gülsüm , Döğer Esra , Uğurlu Aylin Kılınç , Akbaş Emine Demet , Küpçü Zekiye , Perçin Ferda , Bideci Aysun , Çamurdan Orhun

Introduction: It is known that microduplications including the SOX3 gene and intragenic duplications leading to loss of function in the gene cause panhypopituitarism, which can be accompanied by intellectual failure. Here, we report the first known case of panhypopituitarism, a deletion of the X chromosome, including the SOX3 gene in the q27.1q27.3 region.Case: A 15-years and two months old male patient was referred to o...