hrp0086p1-p554 | Perinatal Endocrinology P1 | ESPE2016

Clinical and Molecular Characteristics of Turkish Patients with Congenital Hyperinsulinism: A Single-Center Experience

Yildiz Melek , Akcay Teoman , Mutlu Neval , Akgun Abdurrahman , Onal Hasan , Ulucan Korkut , Ellard Sian , Flanagan Sarah E.

Background: Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia which needs a prompt diagnosis and relevant treatment to avoid brain damage. So far, mutations in 11 key genes are known to cause monogenic forms of HI.Objective and hypotheses: The aim of this study was to characterize the clinical and molecular features of Turkish congenital HI patients and analyze the genotype/phenotype correlations.M...

hrp0094p2-383 | Pituitary, neuroendocrinology and puberty | ESPE2021

Langerhans Cell Histiocytosis with Isolated Central Diabetes Insipidus, Low Grade Fever and Sellar Erosion

OKUR Iclal , ARI Hasan , Cetinkaya Semra , Emine Derinkuyu Betul , Caglar Gizem , Gokce Cinar Hasibe , Yesil Sule , Savas-Erdeve Senay ,

Introduction: The annual incidence of Langerhans cell histiocytosis (LCH) is 5 per million in admission with a diagnosis of isolated central diabetes insipidus (CDI) in children under the age of 15. Here, the process leading to the diagnosis of LCH at presentation with isolated CDI, imaging findings, and the sellar erosion, which has not been previously reported in the literature, will be discussed.Case presentation: A 4-year-5-month-old...

hrp0097fc6.2 | Pituitary, neuroendocrinology and puberty 1 | ESPE2023

The role of body composition and appetite-regulating hormones in idiopathic central precocious puberty and their changes during GnRH analogue therapy.

Tarçın Gürkan , Bayramoğlu Elvan , Güneş Kaya Didem , Karakaş Hasan , Turan Hande , Evliyaoğlu Olcay

Aim: This study aimed to compare the levels of appetite-regulating hormones (ghrelin, leptin, peptide-YY (PYY), neuropeptide-Y (NPY)) in girls with idiopathic central precocious puberty (ICPP) before treatment with prepubertal girls, and to evaluate changes in these hormone levels and body composition during leuprolide acetate (LA) treatment.Methods: This prospective, cross-sectional study included girls with ICPP, isola...

hrp0097p1-528 | Growth and Syndromes | ESPE2023

Seasonality in growth of preschool children in Palestine, a pilot study

Eida Hasan , Mansour Ahmad , Abdelhafez Mohammad , Elayan Tamara , Mansour Maryam , Abu Rob Alaa , Alghneimat Bilal , Rfidi Iyad

Introduction: Genetics, diet, and physical activity are just a few of the variables that determine child growth rates, but seasonal variations in these variables can also have an impact on growth patterns. Among kids aged four and five, we looked at the seasonality of changes in height, body weight, and BMI.Methods: This was a pilot study carried out in Palestine at a private school where psychological factors could be r...

hrp0098p2-121 | Fat, Metabolism and Obesity | ESPE2024

Anthropometric, Laboratory and Clinical Evaluation of Patients with Syndromic Obesity Regarding to Their Genetic Diagnoses

Velioglu Haslak Gokce , Bayramoglu Elvan , Altun Ilayda , Bingol Aydin Dilek , Karakas Hasan , Ucar Mert , Evliyaoglu Olcay , Turan Hande

Objective: Obesity is a multifactorial genetic disorder. Monogenic obesity, explaining 5-13% of early-onset cases, is often associated with hyperphagia and reduced energy expenditure. Syndromic obesity involves additional clinical features such as developmental delay, hypogonadism, and sensorial hearing deficits. This study aims to enhance the understanding and management of patients with syndromic obesity by evaluating their anthropometric, laboratory, and cl...

hrp0098p2-263 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Frasier syndrome with 46,XY gonadal dysgenesis diagnosed during etiological evaluation of nephrotic syndrome: A case report

Yanik Hasan , Koc Cansu , Sonmez Ferah , Uyanik Bulent , Derya Kardelen Al Asli , Yildiz Melek , Poyrazoglu Sukran , Bas Firdevs , Darendeliler Feyza

Background: Frasier syndrome (FS) is a rare inherited disease characterized by gonadal dysgenesis and progressive nephropathy, resulting from mutations in intron 9 splice donor site of the Wilms’ tumor suppressor gene 1 (WT1). It can be associated with 46,XY gonadal dysgenesis (female external genitalia with a 46,XY karyotype). Gonadoblastoma usually occurs in the second decade of life but can develop as early as 9 months of age in children with gonadal ...

hrp0098p3-257 | Thyroid | ESPE2024

A Case of Amiodarone-Induced Hyperthyroidism

Şeyma Eken Emine , Arı Hasan , Kurnaz Erdal , Keskin Melikşah , Aslı Bala Keziban , Savaş Erdeve Şenay

İntroduction: Amiodarone, an iodine-rich antiarrhythmic agent, is associated with thyroid dysfunction in 15-20% of patients, potentially leading to amiodarone-induced thyrotoxicosis. The etiology of amiodarone-induced hyperthyroidism encompasses two distinct mechanisms: iodine-induced hyperthyroidism (Type 1) prevalent in patients with Graves' disease or nodular goiter, and destructive thyroiditis-induced hyperthyroidism (Type 2) observed in individu...

hrp0092p1-159 | Adrenals and HPA Axis (1) | ESPE2019

Characteristics of puberty, pubertal height gain and final height in children with classical 21 hydroxylase deficiency

Abali Zehra Yavas , Yildiz Melek , Bas Firdevs , Onal Hasan , Abali Saygin , Cilsaat Gizem , Uyguner Zehra Oya , Turan Serap , Darendeliler Feyza , Bereket Abdullah , Guran Tulay

Context: There is a limited data from large cohorts regarding pubertal characteristics of children with classical 21-hydroxylase deficiency(21OHD).Objective: To explore the timing and tempo of puberty, and pubertal height gain(PHG) in children with 21OHD-CAH.Design: A multicenter observational, retrospective, longitudinal analysis.Patients: D...

hrp0092p1-160 | Adrenals and HPA Axis (1) | ESPE2019

Serum fetuin-A and insulin levels in classic congenital adrenal hyperplasia

Kurnaz Erdal , Çetinkaya Semra , Özalkak Servan , Bayramoglu Elvan , Demirci Gülsah , Öztürk Hasan Serdar , Erdeve Senay Savas , Aycan Zehra

Background: Androgens play a pivotal role in non-reproductive tissues, such as the kidney, heart, and liver, as well as the pancreas. Since the androgen receptor is expressed in pancreas and liver cells, this raises the possibility that excess testosterone results in insulin hypersecretion, and in fetuin-A, a protein produced in the liver. However, whether fetuin-A and insulin levels are affected by androgens in classic congenital adrenal hyperplasia (CAH) due...

hrp0094p2-85 | Bone, growth plate and mineral metabolism | ESPE2021

One gene, two diseases: osteogenesis imperfecta, or Bruck syndrome?

Arı Hasan , Cetinkaya Semra , Guleray Lafcı Naz , Şakar Merve , Karacan Kucukali Gulin , Keskin Melikşah , Muratoğlu Şahin Nursel , Savaş Erdeve Şenay ,

Background: Osteogenesis imperfecta (OI) is a genetic disorder characterized by diffuse osteoporosis, recurrent fractures, and resulting deformities. Bruck syndrome (BS) is a rare autosomal recessive disease that manifests with many symptoms of OI. In addition to the deficiency of type I collagen in OI, congenital joint contractures also occur in BS. BS is caused by mutations of FKBP10 (BS type 1) and PLOD2 (BS type 2) genes encoding the chaperone-collagen com...