ESPE Abstracts

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...

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...

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...

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...

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...

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...

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...

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...

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...

Introduction: Spondyloepimetaphyseal dysplasia (SEMD) (OMIM 603546) is a skeletal dysplasia that may present with a number of characteristics, including short stature, joint dislocations with laxity, limb malalignment and spinal deformity. It is believed that mutations in the KIF22 (kinesinfamilymember22) gene (16p11.2) may be the cause of this condition. In this case, we will present a case of leptodactylic type SEMD due to a KIF22 mutation.<p class="abst...