hrp0098p1-259 | Growth and Syndromes 3 | ESPE2024

Polysomnography Findings and Respiratory Problems in Prader-Willi Syndrome: The Effect of Growth Hormone Treatment

Kelestemur Elif , Esra Baysal Eda , Seven Menevse Tugba , Bas Serpil , Kurt Ilknur , Kahveci Ahmet , Gurpinar Tosun Busra , Helvacioglu Didem , Yavas Abali Zehra , Cemal Yumusakhuylu Ali , Gokdemir Yasemin , Erdem Eralp Ela , Pinar Ergenekon Almala , Karadag Bulent , Haliloglu Belma , Guran Tulay , Bereket Abdullah , Turan Serap

Introduction: Prader-Willi syndrome (PWS) is a genetic condition characterized by a complex hypothalamic dysregulation of the growth hormone/insulin-like growth factor (GH/IGF) axis, short stature, obesity, reduced muscle mass and impaired quality of life. The risk of obstructive sleep apnea (OSA), central hypoventilation (CHV) and sleep-disordered breathing (SDB) are the major causes of morbidity and mortality in these patients....

hrp0095p1-445 | Diabetes and Insulin | ESPE2022

Glucagon Response to Hypoglycemia During Extended Oral Glucose Tolerance Test in Children with Cystic Fibrosis and Comparing with Healthy Peers

Haliloglu Belma , Seven Menevse Tuba , Gürpınar Tosun Busra , Guran Tulay , Turan Serap , Ispir Turgay , Gokdemir Yasemin , Erdem Ela , Bereket Abdullah

Post-OGTT hypoglycemia is common in Cystic Fibrosis(CF). The aim of the study is to determine of the role of glucagon in the pathogenesis of hypoglycemia in CF patients. A 3-hour-OGTT was performed fifty-three subjects (44CF,9 age-matched controls). Sixteen (36.4%) subjects had normal glucose tolerance (NGT), 13 (29.5%) had isolated hypoglycemia (IsoHypo), 8 (18.2%) had hypoglycemia with abnormal glucose intolerance (Hypo+AGT), 5 (11.4%) had AGT and 2 (4.5%) had CFRD. After AG...

hrp0084p3-1160 | Puberty | ESPE2015

Central Precocious Puberty Presented due to Late Started Treatment for Familial Testotoxicosis

Kor Yilmaz , Durmaz Erdem , Bulus Derya , Ceylaner Serdar

Background: Peripheral precocious puberty (GnRH independed): precocious development of secondary sexual characteristics may also be caused by mechanisms that do not involve activation of pulsatile GnRH secretion. Familial male-limited precocious puberty, also known testotoxicosis is a rare dominant form of gonadotropin independent precocity caused by constitutively activating mutations of the human LH choriogonadotropin receptor (LHCGR). If do not treat with appropriate drugs ...

hrp0086p2-p941 | Thyroid P2 | ESPE2016

Celiac Disease in Children and Adolescents with Hashimoto Thyroiditis

Tuhan Hale , Isik Sakine , Abaci Ayhan , Simsek Erdem , Anik Ahmet , Anal Ozden , Bober Ece

Background: Hashimoto thyroiditis (HT) is part of the spectrum of autoimmune thyroid diseases and is characterized by the destruction of thyroid cells by various cell- and antibody-mediated immune processes.Objective and hypotheses: The aim of this study was to evaluate clinical and laboratory findings and determine the prevalence of celiac disease (CD) in children with HT.Method: A total of 80 patients with positive anti-thyroid a...

hrp0082p2-d2-577 | Sex Development (1) | ESPE2014

A Novel Cyp19a1 Gene Mutation Identified in Three Turkish Families

Akcurin Sema , Durmaz Erdem , Kim Woo-Young , Turkkahraman Doga , Shin Joe-Gook , Lee Su-Jun

The CYP19A1 gene product cP450aromatase enzyme is responsible for estrogen synthesis and androgen/estrogen equilibrium in many tissues; placenta and gonads are being the leading tissues. cP450aromatase deficiency has important effects on clinical phenotype due to excessive amount of androgen accumulation and insufficient estrogen synthesis in the pre- and postnatal periods. We identified a new point mutation in the CYP19A1 gene causing aromatase deficiency in three Turkish fam...

hrp0082p3-d2-860 | Growth (3) | ESPE2014

Clinical Expression of Familial Williams–Beuren Syndrome in a Turkish Family

Parlak Mesut , Nur Banu Guzel , Mihci Ercan , Durmaz Erdem , Karauzum Sibel Berker , Akcurin Sema , Bircan Iffet

Background: WBS is a rare genetic disorder characterized by distinctive facial features, intellectual disability, cardiovascular anomalies, and infantile hypercalcemia.Objective and hypotheses: Majority of WBS cases occur sporadically, only five families with clinically confirmed WBS have been identified by molecular cytogenetic analysis. Here, we report on the three molecular cytogenetically confirmed familial WBS detected in a family with familial shor...

hrp0084p3-1151 | Puberty | ESPE2015

Urinary Bisphenol A and Its Relation with Kisspeptin in Girls with Idiopathic Central Puberty Precocious and Premature Telarche

Ozgen Ilker Tolga , Torun Emel , Bayraktar-Tanyeri Bilge , Durmaz Erdem , Cesur Yasar

Background: Endocrine disruptors cause harmful effects to human body through various exposure routes. These chemicals mainly appear to interfere with the endocrine or hormone systems. Bisphenol A (BPA) is known as an endocrine disruptor with an estrogenic effect and it is supposed that it may have a role on development of precocious puberty (PP). Kisspeptin, a hypothalamic peptide, is a neuromodulator of GnRH and it has a big role on regulation of the onset of puberty.<p c...

hrp0086p1-p915 | Thyroid P1 | ESPE2016

Macro TSH- a Rare Cause of High Levels of TSH

Elmaogullari Selin , Yilmaz Aslihan Arasli , Ucakturk Seyit Ahmet , Tayfun Meltem , Gurbuz Fatih , Ucar Fatma , Bulut Erdem , Hattori Naoki , Demirel Fatma

Background: Macro TSH is a high molecule weighed complex with low bioactivity that is comprised of TSH and anti-TSH antibodies. Potentiality of macro TSH should be kept in mind in clinically euthyroid and asymptomatic patients with normal free T4 and T3 levels and relatively high TSH levels. Diagnosis of macro TSH is suspected if polyethylene glycol (PEG) precipitable TSH exceeds %75 and confirmed if high molecule weighed TSH is shown with gel filtration ...

hrp0086p2-p962 | Thyroid P2 | ESPE2016

Two Patients with Resistance to Thyroid Hormones

Papatya Cakir Esra Deniz , Gorukmez Orhan , Ucakturk Seyit Ahmet , Kibar Ayse Esin , Sangun Ozlem , Erdem Sevcan , Ozen Samim

Background: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced sensitivity of target tissues to thyroid hormone.Objective and hypotheses: We describe the clinical, biochemical data and mutation analysis of two patients and their families with (RTH).Method: We conducted clinical studies and genetic analysis of these two patients and their families.Results: First patient refer...

hrp0084p2-239 | Bone | ESPE2015

Novel CYP27B1 Gene Mutations in Children with Vitamin D-Dependent Rickets Type 1A

Demir Korcan , Kattan Walaa E , Zou Minjing , Durmaz Erdem , BinEssa Huda , Nalbantoglu Ozlem , Al-Rijjal Roua A , Meyer Brian , Ozkan Behzat , Shi Yufei

Background: The CYP27B1 gene encodes 25-hydroxyvitamin D-1α-hydroxylase. Mutations of this gene cause a rare autosomal recessive disorder, vitamin D-dependent rickets type 1A.Objective and hypotheses: To investigate CYP27B1 mutations in children when rickets was associated with normal or high vitamin D levels and low or inappropriately normal calcitriol levels.Method: All coding exons and intron-exon boundari...