hrp0084p3-804 | DSD | ESPE2015

A Practical and Integrative Approach to Differential Diagnosis between 46,XY Disorder of Sexual Development

Karaoglan Murat , Keskin Mehmet , Ozkur Ayhan , Keskin Ozlem

Introduction: 46,XY disorder of sexual development can cause clinical spectrum varying from complete female phenotype to isolated micropenis. However, the most common reasons are androgen synthesis and resistance, choromosome abnormalities, testicular dysgenesis, steroid synthesis defects, it is usually idiopathic. The accurate and differential diagnosis is crucial in respect of treatment, monitoring, sex determination, surgical correction. Moreover, it sometimes can be medica...

hrp0084p3-1161 | Puberty | ESPE2015

A Practical and Integrative Approach to Differential Diagnosis Between Precocious Puberty and Premature Telarch: Newly Proposed Clinical and Laboratory Finding-Based Diagnostic Scoring in Precocious Puberty and Premature Telarch

Karaoglan Murat , Keskin Mehmet , Ozkur Ayhan , Keskin Ozlem

Background: Accurate and differential diagnosis of preococious puberty (PP) have some important challenges. Many parameters have used to diagnose pubertal diseases so far. However LH-RH stimulation test is considered as a gold standard procedure, ıt has some difficulties in practise.Objective: We aimed to set a newly proposed clinical and laboratory finding-based diagnostic scoring in the differential diagnosis of preoccious puberty and premature te...

hrp0084p3-1167 | Puberty | ESPE2015

In a Severe Precocious Puberty Case Who Treated with Frequent Leuprolid Acetate Injections, a Rare Adverse Effect: Sterile Abscess

Keskin Mehmet , Karaoglan Murat , Demir Korcan , Keskin Ozlem

Introduction: GnRH analogues common used in precocious puberty are highly effective agents. The drug dose and injection frequency should be designed for each case. However these agents are common well tolerated, some rare adverse effects may be occur. We present a case of frequent leuprolid acetate injections-related sterile abscess.Case: The case was 16-month-old boy. He had rapid growth, big penis, and excessive pubic hair. These symptoms have appeared...

hrp0084p3-1192 | Thyroid | ESPE2015

The Comparing of Thyroid Volumes between Healthy and Obese Children in Respect of Anthropometric, Biochemical, and Metabolic Parameters

Keskin Mehmet , Karaoglan Murat , Balci Onur , Ozkur Ayhan , Keskin Ozlem

Objective: There have no been studies enough about thyroid volumes of obese and adolescent children. In this study, we purposed comparing of thyroid volumes in respect of anthropometric, biochemical, metabolic parameters in following groups: Overweight, obese, morbid obese, and healthy children.Method: Two groups were compared: The first group consisted of 190 children whose BMIs are above the 85th percentile. The second group was 90 children with normal...

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...

hrp0092p2-59 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Spondyloocular Syndrome: Presentation of Two Siblings Diagnosed with The Rare Disease and The Results of Pamidronate Therapy

Vuralli Dogus , Simsek Kiper Pelin Ozlem , Utine Eda , Unsal Yagmur , Alikasifoglu Ayfer , Kandemir Nurgun

Spondyloocular syndrome (OMIM 605822) is an autosomal recessive disorder characterized by skeletal complaints (osteoporosis, platyspondyly, multiple bone fractures), hearing loss and ocular symptoms (cataracts, retinal detachment). XYLT2 gene (OMIM 608125) mutation encoding xylosyltransferase II enzyme which is responsible from the first step of proteoglycan assembly is responsible for the pathogenesis. Phenotypical variability is associated with varying genetic expre...

hrp0092p3-124 | Fat, Metabolism and Obesity | ESPE2019

Early Onset Monogenic Obesity: Two Cases with Homozygous Mutation in Lepr Gene

Nalbantoglu Ozlem , Acar Sezer , Koprulu Ozge , Arslan Gulcin , Ozkaya Beyhan , Hazan Filiz , Gursoy Semra , Ozkan Behzat

Introduction: Although the majority of the cases with obesity have a multifactorial etiology, rare monogenic forms of obesity exist. Several genetic disorders have been described that lead to early onset monogenic obesity. Leptin (LEP), leptin receptor (LEPR), melanocortin 4 receptor (MC4R), proprotein converting protein subtilisin / kexin-type 1 (PCSK1) and proopiomelanocortin (POMC) are the genetic mutations that have been most frequently shown to cause mono...

hrp0089p3-p020 | Adrenals and HPA Axis P3 | ESPE2018

A Neonatal Case with Familial Glucocorticoid Deficiency Type 1 Having Adrenal Crisis in Early Period

Keskin Mehmet , Koklu Esat , Kaplan Emel H Aytac , Karaoglan Murat , Karaer Kadri , Keskin Ozlem

Objective: Familial glucocorticoid deficiency (ACTH resistance); is a rare chronic adrenal insufficiency problem. Genetic tranmission is autosomal recessive. Glucocorticoid deficiency is characterized by increased ACTH levels and normal or partial incomplete aldosterone production. The familial glucocorticoid deficiency, which is a defect in the melanocortin receptor. Hypoglycemia, convulsions, increased pigmentation in the skin can be seen from the earliest stages of life.</p...

hrp0089p2-p149 | Fat, Metabolism and Obesity P2 | ESPE2018

Galanin is Positively Correlated with Insulin Resistance and Triglyceride Levels in Obese Children

Acar Sezer , Paketci Ahu , Kume Tuncay , Demir Korcan , Calan Ozlem Gursoy , Bober Ece , Abacı Ayhan

Introduction: Galanin is a neuropeptide involved in the regulation of food intake and glucose homeostasis. The objective of this study was to assess the relation of serum galanin levels with anthropometric and metabolic parameters in obese and healthy children.Material and methods: This cross-sectional study consisted of 38 obese children (mean age, 11.9±3.0 years) and 30 healthy children (mean age, 11.4±2.0 years). Clinical and biochemical [gl...

hrp0089p2-p308 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

A Novel Inactivating Compound Heterozygous Mutation in KISS1R/GPR54: Cases of Three Siblings

Nalbantoglu Ozlem , Arslan Gulcin , Koprulu Ozge , Hazan Fılız , Gursoy Semra , Ozkan Behzat

Introduction: Kisspeptin is a neuropeptide, encoded by the KISS1 gene, which acts upstream of gonadotropin-releasing hormone (GnRH) neurons and also has a critical role for maturation and function of the reproductive axis. Inactivating mutations of its receptor (KISS1R) cause normosmic isolated hypogonadotropic hypogonadism (IHH). In this report, we aim to present three siblings who have IHH due to novel compound heterozygous KISS1R mutation.Cas...