ESPE Abstracts

Context: Turner Syndrome (TS) is associated with ovarian dysgenesis leading to infertility in most of the cases. There are some options for fertility preservation in patients with sufficient follicle numbers. The most recently studied are oocyte preservation and ovarian tissue preservation. Due to premature ovarian failure among TS girls, the procedure should be performed as early as possible.The aim of this study is to ...

Aim: Glucose metabolism can affect by several genes, and some of them represent distictive clinical and laboratory features. tRNA methyltransferase 10 homologue A (TRMT10A) gene is a tRNA methyl transferase, and localised to the nucleolus, where tRNA modifications occur. Very recently, a novel syndrome of abnormal glucose homeostasis or nonautoimmune diabetes associated with microcephaly, epilepsy, intellectual disability, failure to thrive, delayed puberty caused by ...

Background: Sotos syndrome is a rare syndrome; with distinctive clinical findings include typical facial appearance, learning disability; and overgrowth. Advanced bone age can be detected in some cases while precocious puberty reported only in two cases until now.Case: A 6,5 months of age male infant admitted to clinic with neuromotor delay and macrogenitalia. He was second child of unrelated healthy parents, and birth-weight was 4200 g. In physical exa...

Background: Aromatase excess syndrome (AEXS) (OMIM 139300) is a rare condition characterized with gynecomastia in boys and macromastia in girls. Estrogen excess in boys can lead to prepubertal and pubertal gynecomastia, bone age progression and short adult stature. While most of girls are usually asymptomatic, there are few reported female patients with excessive breast growth, early puberty, menstrual irregularities, and short adult stature. Male and female children with AEXS...

Introduction & Objectives: Fat and fructose-rich nutrition bring many metabolic diseases, especially obesity and diabetes. Recent years, more scientific interest in how can diet effect on brain function has emerged. We aimed to investigate the effect of high fructose and high-fat diet on the brain, and whether the presence of relationship with advanced glycation end products histologically, in rat model.Materials & Method...

Aim: Osteogenesis imperfecta (OI) is a genetic disease of extracellular matrix presenting with varying degrees of skeletal fragility. The study aims to evaluate growth and pubertal characteristics of 83 patients with OI.Materials and methods: Patients were classified according to Sillence clinical classification criteria. Demographic data, clinical findings, growth and pubertal characteristics were recorded from medical charts, retrospec...

Aim: The majority of children born small for gestational age (SGA) demonstrate spontaneous catch-up growth in height by the age of two years; however, approximately 10-15% of SGA newborns are at risk of having subnormal growth and persistent short stature (PSS).Method: We evaluated clinical, anthropometric, and laboratory characteristics of the 86 children with PSS who were born SGA.Results...

Background: Rokineticin receptors (PROKR1 and PROKR2) belong to the family of G protein-coupled receptors. Bi-or mono allelic mutations in PROKR2 gene have been identified in Kallmann syndrome which is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. Recently, PROKR2 mutations were reported in patients with multiple pituitary hormone (MPHD) and growth hormone deficiencies (GHD), suggesting a potential role for the PROK2 p...

Introduction: Turner Syndrome (TS) is known to be associated with a high risk of cardiac anomalies and cardiovascular diseases. Detailed cardiac evaluation at diagnosis and serial evaluation for dissection is warranted.Aim: This study aimed to evaluate TS patients for cardiac pathology using MRI.Methods: Clinical findings, karyotypes, echocardiogram results, cardiac MRI findings of 33 patients with TS were evaluated. Measurements o...

Background: Recently, mutations in the maternally imprinted MKRN3 gene have been associated to familial idiopathic central precocious puberty (iPPC). The clinical phenotype and the frequency of these mutations are poorly described.Objective and hypotheses: Delineate the frequency of MKRN3 mutations in iPPC and perform a genotype–phenotype correlation in MKRN3 mutated patients.Method: 59 index cases with iPPC have been included...