hrp0092p3-149 | GH and IGFs | ESPE2019

Local Lipoatrophy following Recombinant Human Growth Hormone Administration in Prader Willi Syndrome

Akcan Nese , Bundak Ruveyde

Background: Recombinant human growth hormone (rhGH) is usually administered via subcutaneous injections. Besides well-known adverse events such as peripheral edema, benign intracranial hypertension, and slipped capital femoral epiphysis, a less known and rare side effect is local lipoatrophy, a phenomenon with an incompletely understood pathophysiology. Here, we report a case of Prader Willi Syndrome (PWS) who presented with local lipoatrophy following hGH.</p...

hrp0089p2-p085 | Diabetes &amp; Insulin P2 | ESPE2018

The Efficacy of Tri-ponderal Mass Index and Body Mass Index in Estimating Insulin Resistance, Hyperlipidemia and Impaired Liver Enzymes During Childhood and Adolescents

Akcan Nese , Obyed Moaaz , Salem Jana , Bundak Ruveyde

Body mass index (BMI) is used to diagnose obesity in children and adolescents. Recently, the tri-ponderal mass index (TMI) has been reported to be nearly stable throughout adolescence and estimate body fat levels more accurately than BMI especially in adolescents. Aim: To compare the efficacy of TMI and BMI in forecasting of insulin resistance, hyperlipidemia and impaired liver enzymes.Method: One hundred and forty-two overweight or obes...

hrp0086p2-p789 | Pituitary and Neuroendocrinology P2 | ESPE2016

A Patient with Multiple Endocrine Neoplasia Type 1 Presented with Precocious Puberty

Akcan Nese , Mousa Umut , Sav Hasan , Bundak Ruveyde

Background: Multiple Endocrine Neoplasia Type 1 (MEN1) is an autosomally transmitted hyperplastic or neoplastic disorders of some endocrine and non-endocrine organs. Pituiatry tumors develop in 30–70% of patients with MEN1. Mean age at onset of MEN1 associated pituitary tumors is the 4th decade and its occurence before and during puberty is very rare. Although there are two case reports about MEN1 and delay puberty, early and rapidly progressive puberty with MEN1 has no r...

hrp0092p3-266 | Late Breaking Abstracts | ESPE2019

A Novel Mutation of INSR Gene in a Child with Type A Insulin Resistance

Verdecchia Federica , Akcan Nese , Dastamani Antonia , Morgan Kate , Semple Robert , Shah Pratik

Background:Mutations of insulin receptor gene (INSR) lead to a wide spectrum of inherited insulin resistance syndromes. Type A insulin resistance is one of the these syndromes which is inherited autosomal dominant and leads to mild clinical symptoms after puberty.Objective and Hypothesis: To report a novel mutation of INSR gene mutation in a case of Type A insulin resistance who presented with transient neonatal diabetes...

hrp0082p2-d1-263 | Adrenals &amp; HP Axis | ESPE2014

Genotype and Phenotype Characteristics of Patients with Nonclassical Congenital Adrenal Hyperplasia due to 21-hydroxylase Deficiency

Tombalak Nese Akcan , Uyguner Oya , Toksoy Guven , Karakilic Esin , Aydin Banu , Bas Firdevs , Saka Nurcin , Poyrazoglu Sukran , Bundak Ruveyde , Kayserili Hulya , Darendeliler Feyza

Background: Nonclassical congenital adrenal hyperplasia (NCAH), which is generally presented with symptoms of androgen excess, is inherited autosomal recessive due to different kind of mutations in the CYP21A2. Recently, high frequency of copy number variations at CYP21A2 gene and predisposition of heterozygous duplicated CYP21A2 for de novo gene aberrations has been reported.Objective and hypotheses: To evaluate clini...

hrp0084p2-320 | DSD | ESPE2015

The Evaluation of AR and SRD5A2 Gene Mutations in 87 Patients with 46, XY DSD Children in Turkey

Akcan Nese , Toksoy Guven , Uyguner Oya , Saka Nurcin , Altunoglu Umut , Abali Zehra Yavas , Genens Mikayir , Poyrazoglu Sukran , Bas Firdevs , Bundak Ruveyde , Kayserili Hulya , Darendeliler Feyza

Background: Main diagnosis of 46,XY disorders of sex development (DSD) with normal testosterone secretion Androgen insensivity sydrome (AIS) or 5α-reductase deficiency (5α-RD). In prepubertal period, AIS and 5α-RD present indistinguishable phenotypes that necessitate the molecular analyses for the definitive diagnosis.Objective and hypotheses: Clinical, hormonal and genetic investigation of 46,XY DSD patients who considered as PAIS or 5&#9...