hrp0094p2-315 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Characteristics of Patients with Noonan Syndrome Carrying a PTPN11 Mutation: The Recombinant Growth Hormone Treatment and Long-Term Follow-up

Karacan Kucukali Gulin , Okur Iclal , Erdeve Senay Savas , Muratoglu Sahin Nursel , Keskin Meliksah , Cetinkaya Semra ,

Introduction: Noonan Syndrome (NS) is a heterogeneous group of diseases with a genetic etiology affecting the RAS/MAPK signaling pathway known as RASopathy. Genes known to cause NS are PTPN11, KRAS, SOS1, RAF1, BRAF, SHOC2 and RIT1. There are sufficient studies indicating that recombinant growth hormone (rhGH) therapy can be given without increasing risk of developing cancer in NS cases with PTPN11 mutations from different centers. In this study, it was aimed ...

hrp0097p2-45 | Thyroid | ESPE2023

Evaluation of the clinical progress of hashimoto thyroiditis in childhood

Esra Firat Emine , Okur Iclal , Cetinkaya Semra , Emine Derinkuyu Betul , Savas Erdeve Senay

Keywords: Hashimoto’s thyroiditis, autoimmune thyroiditis, hypothyroidismObjective: In our study, it was aimed to determine the clinical course of the disease by evaluating the cases diagnosed with Hashimoto's thyroiditis (HT) periodically, clinically, laboratory, and radiologically.Material and Method: Patients diagnosed with HT without chronic systemic disease, drug us...

hrp0094p2-29 | Adrenals and HPA Axis | ESPE2021

Fludrocortisone is the salvage treatment in cases with calcineurin inhibitor related hyperkalemia

Unsal Yagmur , Baltu Demet , Gulhan Bora , Visal Okur Fatma , Duzova Ali , Ozon Alev , Topaloğlu Rezan , Gonc Nazlı ,

Calcineurin inhibitors (CNIs) are widely used in pediatric transplantation for prevention of graft rejection, prophylaxis and treatment of graft versus host disease. Though hyperkalemia is a common adverse effect (10-45%), alterations in renin-angiotensin-aldosterone system in CNI-induced hyperkalemia are not well elucidated. Consequently, CNIs vital to transplantation are usually switched. Here, we describe two cases with CNI-induced hyperkalemia due to hyporeninemic hypoaldo...

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...

hrp0095p2-24 | Adrenals and HPA Axis | ESPE2022

Long-Term Follow-Up of a Case with Clinical Image Syndrome

Okur Iclal , Arasli-Yilmaz Aslihan , Elmaogullari Selin , Karacan-Kucukali Gulin , Keskin Meliksah , Muratoglu-Sahin Nursel , Kurnaz Erdal , Savas-Erdeve Senay , Cetinkaya Semra

Introduction: IMAGE Syndrome (#614732) is an autosomal dominant inherited syndrome as a result of CDKN1C mutation characterized by the association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. Here, long-term follow-up of a case with clinical IMAGE syndrome, no genetic mutation was detected, will be presented.Case: A three-month-old baby boy was brought wi...

hrp0094p2-28 | Adrenals and HPA Axis | ESPE2021

An Adolescent Case With Adrenoleukodystrophy Diagnosed After Detection Of Leydig Cell Dysfunction

Okur Iclal , Cetinkaya Semra , Elmaogullari Selin , Kilic Mustafa , Yuksel Deniz , Emine Derinkuyu Betul , Karacan-Kucukali Gulin , Sakar Merve , Guleray-Lafci Naz , Savas-Erdeve Senay ,

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disease characterized by beta oxidation disorder that causes the accumulation of very long chain fatty acids (VLCFA) in all tissues. It presents with clinical signs due to accumulation of VLCFA in brain white matter, testes, adrenal cortex and skin fibroblasts. Here, we will present a case applied to the outpatient clinic due to not going through puberty period and who was diagnose...

hrp0095p1-122 | Growth and Syndromes | ESPE2022

A Case of Derivative Chromosome 1 Accompanied by Y Chromosome Deletion

Çetinkaya Semra , Görkem Erdoğan Nilay , Esen Senem , Özkaya Dönmez Beyhan , Arasli Yilmaz Aslihan , Elmaoğullari Selin , Okur İclal , Kurnaz Erdal , Savaş Erdeve şenay , Bakir Abdullatif

Introduction: Derivative chromosome is a rearrangement involving two or more chromosomes or the presence of multiple abnormalities in a single chromosome and always contains intact centromere. Segmental anomalies such as inversion or translocation in derivative chromosome may result in partial duplication or deletion during meiosis. Chromosomal translocations usually result in miscarriage and multiple anomalies (common neurodevelopmental defects, growth retard...

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...

hrp0097p1-30 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

A Novel Stop Codon Mutation in Exon 6 (c.508A>T) of TRAPPC2 gene in a Patient with X-Linked Spondyloepiphyseal Dysplasia Tarda: A Case Report

Yaşar Deniz , Güleray Lafcı Naz , Karacan Küçükali Gülin , Araslı Yılmaz Aslıhan , Özkaya Dönmez Beyhan , Tahir Yazar Burak , Uçan Berna , Okur İclal , Sarıkaya Özdemir Behiye , Kurnaz Erdal , Keskin Melikşah , Savaş Erdeve Şenay

Spondyloepiphyseal dysplasia tarda (SEDT) is an inherited disorder that is diagnosed in childhood or adolescence presents with disproportionate short stature and premature osteoarthritis with frequently affecting men. Here, we described a novel nonsense mutation, c.508A>T; p.Lys170Ter, in TRAPPC2 in a Turkish patient with X-linked SEDT. The patient is a 15-year-old boy from Turkish non-consanguineous parents, presented decreasing height velocity last three years and also th...