hrp0095p1-127 | Growth and Syndromes | ESPE2022

Treatment response to growth hormone in a patient with heterozygous ROR2 mutation

Berna Celik Nur , Sezer Abdullah , Elmaogullari Selin , Savas-Erdeve Senay , Cetinkaya Semra

Introduction: ‘Receptor tyrosine kinase-like orphan receptor 2 (ROR2)’ is a transmembrane protein tyrosine kinase encoded by the ROR2 gene. Pathogenic mutations in ROR2 are involved in two diseases: biallelic loss-of-function mutations in Robinow syndrome and monoallelic gain-of-function mutations in brachydactyly type B1. Recently, monoallelic loss-of-function mutations in ROR2 have been reported as a cause of isolated short stature. Here we repor...

hrp0095p1-321 | Growth and Syndromes | ESPE2022

A Novel IGF2 Gene Variant of Paternal Origin Causing the Silver-Russell Syndrome Phenotype

Sarıkaya Özdemir Behiye , Sezer Abdullah , Savaş Erdeve Şenay , Çetinkaya Semra

Introduction: Silver-Russell syndrome (SRS) is a rare, well-defined genetic disease characterized by intrauterine and postnatal growth retardation, short stature, triangular face, relative macrocephaly and body asymmetry. The most common molecular pathologies are loss of methylation (50%) of the imprinting center in the p15.5 region of the paternal 11th chromosome and maternal uniparental disomy of the 7th chromosome (5-10%). The IGF2 (insulin-like growth fact...

hrp0095p1-141 | Multisystem Endocrine Disorders | ESPE2022

A Case with Primrose Syndrome and What He Taught

Orman Burçe , Sezer Abdullah , Keskin Melikşah , Savaş Erdeve Şenay , Çetinkaya Semra

Introduction: Primrose syndrome was defined in 1982. It is characterized by characteristic facial appearance, macrocephaly, global developmental delay, intellectualdisability and calcification in the outer ear. It occurs with loss-of-function mutations in the ZBTB20-gene. This gene is a transcriptional gene suppressor regulator and is effective on neurogenesis, glucose homeostasis, and postnatal growth. Here, a case with Primrose syndrome will be presented.</p...

hrp0095p2-249 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

5 Alpha Reductase Deficiency as the Etiology of Primary Amenorrhea in a Girl with Thalassemia Major

Esen Senem , Orman Burçe , Sezer Abdullah , Bakır Abdullatif , Keskin Melikşah , Savaş Erdeve Şenay , Çetinkaya Semra

Introduction: Beta thalassemia major (βTM) is an autosomal recessive anemia characterized by a defect in the production of the β-globin chain of hemoglobin. There may be endocrine problems secondary to hemochromatosis in the clinical follow-up of the patients. Here, a case who was followed up with the diagnosis of βTM, consulted for primary amenorrhea and diagnosed with 5-alpha reductase deficiency (5ARD) is presented and clinical follow-up expe...

hrp0095p2-269 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Case of Under virilized Male with 18q Partial Monosomy and 10p Duplication

Arı Hasan , Sezer Abdullah , Berna Çelik Ertas Nur , Ozkaya Donmez Beyhan , Savas Erdeve Senay , Cetinkaya Semra

Objective: Monosomy 18q and 10p duplications rare chromosomal disorders that are caused by deletion of a part of the long arm (q) of chromosome 18 and duplication of genetic material on the short arm (P) of chromosome 10 respectively. In both disorders the phenotype is highly variable and; includes short stature, developmental delay, hypotonia, and facial dysmorphic features. Also, genital abnormalities could occur in both disorders. Genital abnormalities (cry...

hrp0095p1-567 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Two Cases with Hypergonadotropic Hypogonadism Due to Derivative X Chromosome

Elmaoğulları Selin , Sezer Abdullah , Öztoprak Ülkühan , Berna Çelik Ertaş Nur , Savaş Erdeve Şenay , Çetinkaya Semra

Introduction: A derivative chromosome (der) is a structurally rearranged chromosome generated either by a chromosome rearrangement involving two or more chromosomes or by multiple chromosome aberrations within a single chromosome. Balanced segmental anomalies such as inversion or translocation can lead to derivative chromosomes with partial duplication and deletion during meiosis. Here we present two patients with hypergonadotropic hypogonadism and various acc...

hrp0092p1-351 | Fat, Metabolism and Obesity (2) | ESPE2019

Congenital Generalized Lipodystrophy Type 4 - New Mutation in the CAVIN1 Gene

Döger Esra , Sezer Abdullah , Ugurlu Aylin Kilinç , Akbas Emine Demet , Perçin Ferda , Bideci Aysun , Çamurdan Orhun , Cinaz Peyami

Introduction: Congenital generalized lipodystrophies (CGL); autosomal recessive disorders characterized by dyslipidemia and almost complete absence of body fat associated with insulin resistance. It develops due to mutations in AGPAT2, BSCL2, CAV1, PTRF, PCYT1A and PPAR, genes.CGL type 4 results from PTRF-CAVIN gene mutation. Unlike classical CGL, myopathy, flat and skeletal muscle hypertrophy, heart rhythm disorders (sudden death) and skeletal abnormalities a...

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...

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...