hrp0084p2-231 | Bone | ESPE2015

Cinacalcet Treatment in Girls with Hereditary Vitamin D Resistant Rickets

Sari Erkan , Ozkececi Firat , Akin Onur , Bolat Ahmet , Yesilkaya Ediz

Background: HVDRR is characterised by hypocalcaemia, secondary hyperparathyroidism and severe early-onset rickets in infancy and is diagnosed easily especially associated with alopecia.Objective and hypotheses: Successful treatment requires reversal of hypocalcaemia and secondary hyperparathyroidism and is usually failed by high dose calcitriol but sometimes accomplished by administration of high doses calcium. Some patients need enteral or parenteral co...

hrp0084p2-567 | Thyroid | ESPE2015

Case Report: Resistance of Thyroid Hormone due to a Novel Thyroid Hormone Receptor β-Gene Mutation

Tayfun Meltem , Elmaogullari Selin , Yesilyurt Ahmet , Demirel Fatma

Background: Thyroid hormone resistance (THR) is an autosomal dominant, rare syndrome and result of the reduction sensitivity of target tissues to thyroid hormone. There is usually normal or slightly elevated TSH concentration with increase in serum fT3 and fT4 concentrations. The most common cause of resistance to thyroid hormone (RTH) is heterozygous thyroid hormone β (THR β) gene mutations. THR is defined by Refetoff et al. at 1967. THR mutati...

hrp0084p3-1019 | Growth | ESPE2015

Laron Syndrome Caused by a Large Deletion in GH Receptor Gene

Mutlu Gul Yesiltepe , Kirmizibekmez Heves , Arman Ahmet , Hatun Sukru

Background: Laron syndrome, which is characterised with GH insensitivity, is caused by mutations of GH receptor (GHR). GHR, consisting of nine exons, is located on 5th chromosome. Typical findings of this syndrome are immature facial appearance, prominent forehead and eyes, depressed nasal bridge, low IGF1 and IGFBP3 levels which do not increase with IGF-generation test.Case report: A 4-year and 3-month old boy was admitted because of growth retardation....

hrp0097p1-162 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

The Therapeutic Effect of Oral Desmopressin Lyophilisate Formulation in Children with Central Diabetes Insipidus

Anil Korkmaz Huseyin , Coskunol Fulya , Gonullu Ahmet , Ozkan Behzat

Background: Experience with oral desamino-D-arginine-8-vasopressin lyophilisate (OLD) for central diabetes insipidus (CDI) in children with CNS malformations is limited.Objective and hypotheses: We aimed to assess the efficacy of oral use of OLD in children with CDI.Methods: Clinical, laboratory, and imaging characteristics of twenty-five children with CDI treated with OLD were eva...

hrp0095p1-367 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Evaluation of The Relationship Between the Immune and Endocrine System in Children Diagnosed with Polycystic Ovary Syndrome

Uygur Balık Ahmet , Keskin Mehmet , Karaoglan Murat , Keskin Ozlem , Yıldırım Ahmet , Albayrak Serpil

Polycystic ovary syndrome is the most common endocrinological disease in women of reproductive age. Although it is thought that pathologies such as insulin resistance, chronic low-level inflammation and hyperandrogenism are central theme of the disease, the exact pathophysiology of the disease has not been fully understood. This study’s aim is to reveal the relationship between routine endocrinological and immunological markers related to chronic inflammation, and to inv...

hrp0092p1-294 | Thyroid (1) | ESPE2019

Effect of serum TSH level on ovarian volume in prepubertal girls with subclinical hypothyroidism

Yigit Özgül , Sert Tugba , Ekinci Deniz , Kirankaya Aysegül , Kilinç Suna

Background and Objectives: Enlargement and cystic changes in ovaries of patients with longstanding overt hypothyroidism has been observed in numerous case reports. But there is limited data about the effect of subclinical hypothyroidism (SH) on ovarian volume and ovarian cyst formation. We evaluated the relationship between serum thyroid stimulating hormone (TSH) level and ovarian volume and sonographic appearance in prepubertal girls with SH.<p class="abs...

hrp0089p3-p039 | Bone, Growth Plate &amp; Mineral Metabolism P3 | ESPE2018

Carbonic Anhydrase Deficiency: Three Siblings

Buluş Derya , Tayfur Aslı Celebi , Yılmaz Deniz

Introduction: The carbonic anhydrase II (CA II) deficiency syndrome is a rare autosomal recessive disorder associated with osteopetrosis, renal tubular acidosis (RTA), and cerebral calcification (CADS; autosomal recessive osteopetrosis type 3). Other features include visual and auditory impairment, short stature, a large cranial vault, history of multiple skeletal fractures, developmental delay and cognitive defects, anemia, splenomegaly and secondary erythropoiesis. We report...

hrp0089p3-p095 | Diabetes &amp; Insulin P3 | ESPE2018

The Relationship between Serum Levels of C-Peptide and the Age, BMI, and Insülin Doses in Reply to: Newly Diagnosed Type 1 Diabetic Children

Karaguzel Gulay , Usta Deniz , Tavaci Ayşegul , Taniş Mustafa , Beyhun Ercument

Background and aim: C-peptide is an important indicator of endogenous insulin release. Our aim was to investigate the association of serum C-peptide levels with age, BMI and insulin doses in newly diagnosed type 1 diabetic (DM1) children.Metods: The patients with newly diagnosed DM1 were enrolled the study and classified as DM1A and DM1B. Clinical and laboratory findings of all the patients were recorded. Daily insulin doses, BMI and its z score were cal...

hrp0086p2-p781 | Pituitary and Neuroendocrinology P2 | ESPE2016

Does Pituitary Volume have the Diagnostic Value on Growth Hormone Deficiency and Prognostic value on the Response to Growth Hormone Therapy?

Yilmaz Seniha Kiremitci , Ovali Gulgun Yilmaz , Duzgun Fatih , Kizilay Deniz , Ersoy Betul

Background: Pituitary gland imaging is conventionally done after the diagnosis of growth hormone (GH) deficiency was established, to ascertain the cause of GH deficiency.Objective and hypotheses: We aimed to determine the differantial diagnostic value of pituitary volume (PV) on GH deficiency, and effect of PV on responses to GH therapy.Method: This retrospective study was conducted on 102 growth hormone deficient (GHD) patients (5...

hrp0082p1-d2-250 | Thyroid (1) | ESPE2014

In Patients with Chronic Autoimmune Thyroiditis, Investigation of the Effects of Functions of Regulatory T Cells and Vitamin D

Siklar Zeynep , Karatas Deniz , Dogu Figen , Kocaay Pinar , Hacihamdioglu Bulent , Ikinciogullari Aydan , Berberoglu Merih

Background: Treg cells are characterized by expression of Foxp3 molecule that serve as keys in the maintenance of peripheral tolerance and in controlling the immune response. The exact role of Treg cells in the pathogenesis of CAT has not been recognized yet.Objective and hypotheses: It is suggested that vitamin D is one of the factors that can regulate the function of Treg cells. In this study, the relationship between Treg cells (levels and expression)...