hrp0098p3-90 | Fat, Metabolism and Obesity | ESPE2024

Gene variants and clinical characteristics of children with sitosterolemia

Zou Chao-Chun , Gu Rui , Wang Hui , Wang Chun-Lin , Lu Mei , Miao Miao , Huang Mengna , Chen Yi , Dai Yangli , Zhu Mingqiang , Zhou Qiong

Objective: To enhance the detection, management and monitoring of Chinese children afflicted with sitosterolemia by examining the physical characteristics and genetic makeup of pediatric patients.Methods: In this group, 26 children were diagnosed with sitosterolemia, 24 of whom underwent genetic analysis. Patient family medical history, physical symptoms, tests for liver function, lipid levels, standard blood tests, phyt...

hrp0098p3-119 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2024

Experience with Octreotide-LAR in Hyperinsulinemic Hypoglycemia

Karagöz Kıymet , Liv Çanga Betül , Karacan Küçükali Gülin , Keskin Melikşah , Kurnaz Erdal , Aslı Bala Keziban , Savaş Erdeve Şenay

Introduction: Hyperinsulinemic hypoglycemia (HH) is characterized by inappropriate insulin secretion from pancreatic β-cells despite low blood glucose levels. The most common mutations causing HH affect the KATP channel genes [ABCC8 (36.8%) and KCNJ11 (5.9%)]. This report shares the experience of transitioning from daily subcutaneous octreotide to long-acting octreotide-LAR in a patient with HH due to a KATP channel mutation.<p class...

hrp0098p3-216 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

A Case of Adipsic Diabetes Insipidus with Craniopharyngioma

Korkmaz Vural Meltem , Karacan Küçükali Gülin , Sarıkaya Özdemir Behiye , Yel Servet , Aslı Bala Keziban , Keskin Meliksah , Kurnaz Erdal , Savas Erdeve Senay

Introduction: Adipsic diabetes insipidus (ADI) arises from the destruction of both antidiuretic hormone (ADH) neurons and osmoreceptors in the hypothalamus. This condition is characterized by polyuria, loss of thirst sensation and hypernatremia. Managing serum sodium levels is particularly challenging, often resulting in fluctuations in serum sodium and osmolality, which elevate the risk of morbidity and mortality. This report presents the clinical follow-up o...

hrp0086p2-p152 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Effect of Hydroxyurea Therapy on Growth Parameters in Older Children with Sickle Cell Disease

Alomairi Anwar , Almullabd Sharef , Khater Doaa , Al-Yaarubi Saif , Nazir Hanan , Wali Yasser

Background: Growth impairment is a known complication of sickle cell disease (SCD). Effects of hydroxyurea (HU) on growth in older children with SCD have never been reported.Objective and hypotheses: This study was done to explore the potential effects of HU on growth parameters of older children with SCD and correlate these changes with clinical improvement.Method: A prospective study was conducted on 97 SCD patients started on HU...

hrp0095p2-212 | Multisystem Endocrine Disorders | ESPE2022

Endocrinological Evaluation in a Case with WAGR Syndrome

Karacan Küçükali Gülin , Yeşil Şule , Aygün Arı Demet , Çetinkaya Semra , Bülbül Mehmet , Sezer Abdullah , Aycan Zehra , Toprak Şule , Savaş Erdeve Şenay

Introduction: WAGR syndrome was first described in 1964 by Miller et al. And is characterized by Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. Endocrine/metabolic problems (obesity, dyslipidemia, hypertension, short stature), especially obesity, are seen in more than 70% of cases with WAGR syndrome. Here, we aimed to present a case with WAGR syndrome for endocrine evaluation.Case: A 12...

hrp0092p2-119 | Fat, Metabolism and Obesity | ESPE2019

Evaluation of Fetuin-A Level and Related Factors in Obese Adolescents

Karacan Kücukali Gülin , Çetinkaya Semra , Kurnaz Erdal , Bayramoglu Elvan , Özalkak Servan , Demirci Gulsah , Serdar Öztürk Hasan , Savas Erdeve Senay , Aycan Zehra

Objective: Fetuin-A has many different functions due to its ability to bind to different toll-like receptors in different tissues. Working in different groups will contribute to our understanding of the pathophysiology of Fetuin-A. In this study, we aimed to evaluate Fetuin-A levels in obese adolescents and the relationship between Fetuin-A and anthropometric data, insulin levels and high sensitivity CRP(HSCRP). Material and Meth...

hrp0097p1-182 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

DNA Ligase IV Deficieny Identified in a Patient with Hypergonadotropic Hypogonadism: A Case Report

Yasar Deniz , Karacan Küçükali Gülin , Özkaya Dönmez Beyhan , Araslı Yılmaz Aslıhan , Okur İclal , Sarıkaya Özdemir Behiye , Sezer Abdullah , Kurnaz Erdal , Keskin Melikşah , Savaş Erdeve Şenay

DNA ligase IV (Lig 4) deficiency (MIM #606593) is a rare autosomal recessive disorder related with impaired DNA damage-response mechanisms. Lig 4 syndrome has a broad clinical presentation; microcephaly, facial abnormality, sensitivity to ionizing radiation, combined immunodeficiency, progressive bone marrow failure and predisposition to malignancy. We describe the patient with Lig4 syndrome presented lissencephaly, growth failure and hypogonadism. The patient is a 18-years-ol...

hrp0098p1-243 | Fetal and Multisystem Endocrinology | ESPE2024

Experience with Cinacalcet in Neonatal Severe Hyperparathyroidism Due to CASR Mutation

Karagöz Kıymet , Karacan Küçükali Gülin , Sumru Kavurt Ayşe , Kulalı Ferit , Asli Bala Keziban , Kolkıran Abdülkerim , Keskin Melikşah , Kurnaz Erdal , Savaş Erdeve Şenay

Introduction: The calcium-sensing receptor (CaSR) detects calcium levels and regulates parathyroid hormone (PTH) secretion to maintain serum calcium within normal ranges. Inactivating mutations in the CASR gene cause hyperparathyroidism and hypercalcemia. Heterozygous mutations lead to familial hypocalciuric hypercalcemia (FHH), homozygous mutations cause neonatal severe hyperparathyroidism (NSHPT). Cinacalcet is an allosteric modulator of CaSR. This ...

hrp0094p2-19 | Adrenals and HPA Axis | ESPE2021

Genetic analysis of paediatric primary adrenal insufficiency of unknown aetiology over 25 years

Buonocore Federica , Maharaj Avinaash , Qamar Younus , Koehler Katrin , Suntharalingham Jenifer P. , Chan Li F. , Ferraz-de-Souza Bruno , Hughes Claire R. , Lin Lin , Prasad Rathi , Allgrove Jeremy , Andrews Edward T. , Buchanan Charles R. , Cheetham Tim D. , Crowne Elizabeth C. , Davies Justin H. , Gregory John W. , Hindmarsh Peter C. , Hulse Tony , Krone Nils P. , Shah Pratik , Shaikh Mohamad G. , Roberts Catherine , Clayton Peter E. , Dattani Mehul T. , Thomas N. Simon , Huebner Angela , Clark Adrian J. , Metherell Louise A. , Achermann John C. ,

Introduction: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires appropriate diagnosis and treatment. The most common cause of PAI is congenital adrenal hyperplasia (CAH), but other well-established aetiologies include metabolic and autoimmune disorders, and physical damage. Mutations in more than 30 genes have now been associated with PAI, with considerable biochemical and phenotypic overlap. It is therefore importan...

hrp0092fc6.4 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Metabolically Unhealthy Obese Children and Adolescents Have Higher Bone Mineral Density Than Normal Weighted Controls but Lower than Metabolically Healthy Obeses: No Effect of FGF21 Levels

Akduman Filiz , Siklar Zeynep , Ozsu Elif , Doğan Ozlem , Kir Metin , Berberoglu Merih

Introduction: The harmfull or benefical effect of obesity on bone mineral density (BMD) is remain controversial in children and adolescence. Either increase or decrease of BMD have been reported. Several factors such as insülin resistance, prediabetes, high proportion of fat mass, sedentary lifestyle were suggested to cause the differences of BMD in obesity. FGF-21 is a metabolic factor that plays a specific role in the regulation of carbohydrate and lipi...