hrp0089p1-p258 | Thyroid P1 | ESPE2018

Thyroid Hormone Resistance Beta: Eighteen Pediatric Patient Experience

Siraz Ulku Gul , Direk Gul , Akin Leyla , Bircan Rıfat , Tatli Zeynep Uzan , Hatipoglu Nihal , Kendirci Mustafa , Kurtoglu Selim

Resistance to thyroid hormone (RTH) is a rare genetic disease caused by reduced tissue sensitivity to thyroid hormone. The hallmark of RTH is elevated serum levels of thyroid hormone with unsuppressed thyrotropin (TSH). The most common form of RTH results from minor defects in the ligand-binding domain of the TRb gene, resulting in impaired T3-induced transcriptional activity. This study aimed to characterize clinical and genetic features of THD suspected cases in our clinic. ...

hrp0089p1-p055 | Diabetes & Insulin P1 | ESPE2018

Wolfram Syndrome Case with Hypergonadotropic Hypogonadism: A Novel Mutation

Uzan Tatlı Zeynep , Direk Gul , Hepokur Mervenur , Hatipoglu Nihal , Akın Leyla , Kendirci Mustafa , Kurtoglu Selim

Introduction: A rare cause of diabetes mellitus is Wolfram Syndrome, which arises from mutations in wolframin gene found on chromosome 4. Optic nerve atrophy, diabetes insipidus, sensorineural deafness, psychiatric problems can accompany diabetes mellitus, so it can be also named as DIDMOAD syndrome. Hypergonadotrophic hypogonadism can be rarely observed in Wolfram syndrome. A case of novel homozygous mutation in the wolframin gene has been reported because of concomitant rare...

hrp0089p3-p124 | Diabetes & Insulin P3 | ESPE2018

Continuous Glucose Monitoring Results of Our Cases with MODY Type 2 Diabetes

Tatlı Zeynep Uzan , Direk Gul , Hepokur Mervenur , Hatipoğlu Nihal , Akın Leyla , Kendirci Mustafa , Kurtoglu Selim

Introduction: The most common type of diabetes in childhood is type-1 diabetes. The group of diabetes called MODY (maturity-onset diabetes of the young) is rarer. Mutations that occur in glucokinase gene cause disruption in the perception of the resultant glucose level and, consequently, impaired insulin release, leading to the development of MODY-2. In this case, resulting hyperglycemia is usually at a mild, non-progressive level and does not require insulin therapy. For this...

hrp0089p3-p044 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Clinical Evaluation of Eight Patients with Parathyroid Adenoma

Direk Gul , Uzan Tatli Zeynep , Nur Hepokur Merve , Gul Şiraz Ulku , Akin Leyla , Hatipoğlu Nihal , Kendirci Mustafa , Kurtoğlu Selim

Objective: According to the etiology of hyperparathyroidism, it is divided into primer and secondary (uremic). It usually develops due to CaSR mutation in the infancy period. On the other hand, it usually emerges secondary to a parathyroid adenoma in adolescents. Parathyroid adenomas seen in childhood are commonly associated with familial multiple neoplasia syndromes (MEN). Patients may present with bone pain, proximal myopathy, fractures, renal stone, pancreatitis or they can...

hrp0089p3-p094 | Diabetes & Insulin P3 | ESPE2018

Our Clinical Experiences in Type 2 Diabetes

Direk Gul , Uzan Tatlı Zeynep , Nur Hepokur Merve , Gul Şiraz Ulku , Akın Leyla , Hatipoğlu Nihal , Kendirci Mustafa , Kurtoğlu Selim

Background: Type 2 diabetes is a heterogeneous disorder characterized by the defective of insulin, which can not progressively compensate for insulin resistance, due to the influence of environmental factors on the basis of genetic susceptibility. Hyperglycemia, which starts with insulin resistance, is thought to show toxic effects (glucotoxicity) on β cells and ultimately impairs beta cell function., Although many factors play a role in etiology, obesity is the most comm...

hrp0089p3-p247 | Growth & Syndromes P3 | ESPE2018

A Rare Chromosomal Disorder, Trisomy 4p

Hepokur Merve Nur , Tatlı Zeynep Uzan , Direk Gul , Akın Leyla , Hatipoğlu Nihal , Kendirci Mustafa , Kurtoğlu Selim

Background: 4p duplication syndrome is a very rare chromosomal disorder. In the literature; dysmorphic facial features, learning disability, speech retardation, overgrowth, musculoskeletal abnormalities, attention deficit hyperactivity disorder and autism syndrome have been reported to be associated with 4p16.3 duplication. Here we present a patient who admitted to our clinic with complaints of growth in hands and feet along with delayed speech and mental retardation. The gene...

hrp0089p3-p297 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Is Prematüre Adrenarch Associated with Precocıous Puberty via Kisspeptin?

Albayrak Aysun , Direk Gul , Uzan Tatlı Zeynep , Nur Hepokur Merve , Akın Leyla , Hatipoğlu Nihal , Kendirci Mustafa , Kurtoğlu Selim

Aim: Premature pubarche is defined as the start of axillary and pubic hair before age 9 in boys and 8 in girls. 10 times more common in girls than boys. Central precocious puberty is a condition due to early activation of hypothalamic-pituitary- gonadal axis associated with breast development before age 8 in girls and testicular volume growth before age 9 in boys. Despite this axle is not known exactly which hormones are respnsible for the activation, the role of kisspeptin&#1...

hrp0089p2-p177 | Fat, Metabolism and Obesity P2 | ESPE2018

The Effects of the Birth Weight on the Fat Distribution and Fatness Parameters of the Body

Hatipoğlu Nihal , Direk Gul , Hepokur Merve Nur , Tatlı Zeynep Uzan , Cicek Betul , Unalan Demet , Mazıcıoğlu M. Mumtaz , Ozturk Ahmet , Kurtoğlu Selim

The weight of birth affects the weight status and fat distribution in the later period of life. It is suggested that both low and high birth weight pose a risk for cardiometabolic diseases. In this study, the effects of birth weight on body fat mass and body fat distribution parameters during childhood and adolescence period were evaluated.Method: In this cross-sectional study, 4581 children ages between 6-17 years at primary and secon...

hrp0094p1-49 | Sex Endocrinology and Gonads A | ESPE2021

Biallelic PPP2R3C mutations are associated with partial and complete gonadal dysgenesis in 46,XY and 46,XX individuals

Cicek Dilek , Warr Nick , Yesil Gozde , Eker Hatice Kocak , Bas Firdevs , Poyrazoglu Sukran , Darendeliler Feyza , Direk Gul , Hatipoglu Nihal , Eltan Mehmet , Tosun Busra Gurpinar , Kaygusuz Sare Betul , Menevse Tuba Seven , Turan Serap , Bereket Abdullah , Greenfield Andy , Guran Tulay ,

Context: PPP2R3C encodes the B”gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of mammalian cells. We have recently reported homozygous and heterozygous mutations in PPP2R3C in patients with syndromic 46,XY complete gonadal dysgenesis (MEGD syndrome) and impaired spermatogenesis, respectively. In this study, we have further investigated th...