hrp0089p3-p353 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

A Novel Compound Heterozygous Mutation in CYP19A1 Resulting in Aromatase Deficiency with Normal Gonadotropin Levels and Ovarian Tissue

Acar Sezer , Paketci Ahu , Onay Huseyin , Cankaya Tufan , Gursoy Semra , Ozhan Bayram , Abacı Ayhan , Ozer Erdener , Olguner Mustafa , Bober Ece , Demir Korcan

Introduction: Aromatase deficiency leading to virilization in mother and female fetuses during pregnancy is a rare disease. It is characterized by impaired estrogen production, increased gonadotropins, and ovarian cysts. Herein, we report a clinical phenotype of the virilized female due to a novel compound heterozygous mutation in CYP19A1.Case report: A 4-month-old girl was referred due to cliteromegaly. Her mother had developed acne, hair loss,...

hrp0092p2-284 | Thyroid | ESPE2019

Papillary Thyroid Cancer Associated with Hyperthyroidism

Acar Sezer , Paketçi Ahu , Demir Korcan , Ates Oguz , Özer Erdener , Özdogan Özhan , Böber Ece , Abaci Ayhan

Introduction: The most common causes of hyperthyroidism in the pediatric age group are autoimmune conditions (Graves' disease or Hashitoxicosis). Hyperfunctioning thyroid carcinomas are rarely reported. In this case report, we present a 17-year-old girl who was diagnosed with papillary thyroid carcinoma upon testing for hyperthyroidism.Case: A 17-year-old girl had presented to another center with a 1-month history of...

hrp0082p3-d3-950 | Puberty and Neuroendocrinology (1) | ESPE2014

Leydig Cell Hyperplasia Mimicking Tumor: a Rare Cause of Isosexual Precoccious Puberty

Karabulut Gulcan Seymen , Hatun Sukru , Yuksel Aysegul , Corapcioglu Funda Ozer , Anik Yonca , Ekingen Gulsen , Gurbuz Yesim

Background: A 5 years and 10 months boy presented with pubic hair, recent penile growth, aggressive behaviour and rapid growth of height. Antenatal, perinatal, and developmental history was unremarkable. There was no family history of precocious puberty. His height and weight were 128 cm (2.24 S.D.) and 25 kg (1.55 S.D.) respectively. Vital signs were normal. He was Tanner 2 for pubic hair and his stretched penis length was 11 cm, right testis vol...

hrp0084p2-428 | GH & IGF | ESPE2015

Evaluation of the Effect of GH Treatment on Insulin Resistance and Cardiovascular Tissue

Saygili Seha Kamil , Kocaaga Mehmet , Kaya Gamze , Sukur Mine , Ozer Pelin , Bas Firdevs , Bundak Ruveyde , Darendeliler Feyza

Background: GH treatment may cause insulin resistance, which is associated with metabolic syndrome and co-morbidities.Objective and hypotheses: The aim of our study was to evaluate GH deficiency (GHD) patients on GH treatment for hyperlipidemia, insulin resistance and carotid intima media thickness (CIMT) and left ventricular global longitudinal strain (GLS) and assess cardiovascular tissue level effects of insulin sensitivity.Meth...