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...

hrp0092p2-51 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Perinatal form Hypophosphatasia Caused by a Novel Large Duplication of ALPL Gene and two year follow-up under Enzyme Replacement Therapy; A case report

Hacihamdioglu Bulent , Ozgurhan Gamze , Pereira Catarina , Tepeli Emre , Acar Gulsen , Comert Serdar

Hypophosphatasia is a rare disease caused by mutations in the gene encoding tissue- nonspecific isoenzyme of alkaline phosphatase. Duplications of the ALPL gene account for fewer than 1% of the mutations causing HPP. It has been shown that asfotase alfa treatment mineralizes the skeleton and improves respiratory function and survival in severe forms of hypophosphatasia.The newborn was evaluated for respiratory failure and generalized hypoton...

hrp0092p1-239 | Multisystem Endocrine Disorders | ESPE2019

Unusual Presentation of Autoimmune Polyglandular Syndrome Type 1 (aps1)

Vuralli Dogus , Tan Cagman , Gulsen Hayriye , Unsal Yagmur , Ayvaz Deniz Cagdas , Demir Hulya , Ozon Alev , Alikasifoglu Ayfer , Tezcan Ilhan

Introduction: Autoimmune polyendocrinopathy type 1 (APECED) is an autosomal recessive disease caused by loss of function mutations of autoimmune regulatory (AIRE) gene. Characteristically, early onset ectodermal dysplasia, mucocutaneus candidiasis is followed by hypoparathyroidism and primary adrenal insufficiency usually within the first two decades. Although clinical features may be variable, recently, it is suggested that population characteristics and natu...

hrp0094p2-341 | Multisystem endocrine disorders | ESPE2021

Neonatal McCune Albright Syndrome Presenting with Diabetes Mellitus

Unsal Yağmur , Gonc Nazlı , Rana User Idil , Hızarcıoglu Gulsen Hayriye , Gulhan Bora , Ekinci Saniye , Karagoz Tevfik , Ozon Alev ,

Cafe au-lait skin macules, Cushing syndrome (CS), hyperthyroidism, liver and cardiac dysfunction have been described as presenting features of neonatal McCune Albright Syndrome (MAS). Despite being defined, neonatal diabetes mellitus due to hypercortisolism is a rare presenting feature. Outcome of patients presenting in neonatal period is usually unfavorable, tthough spontaneous resolution of hypercortisolism have been reported. Newborn girl was born at 38 weeks of gestation v...

hrp0089p2-p174 | Fat, Metabolism and Obesity P2 | ESPE2018

CAN Triponderal Mass Index be a New Indicator in the Predicting Cardiometabolic Risk in Obese Adolescents?

Cingoz Gulten , Filibeli Berna Eroğlu , Dundar Bumin Nuri , Catlı Gonul

Introduction: BMI is claimed to be unreliable in the determination of body fat rate and cardiometabolic risk. Troublesome and reproducibility low measurements like waist circumference, waist circumference/height rate are used in the evaluation of cardiometabolic risk. Triponderal mass index (TMI; weight/height3), however, is suggested to be superior BMI in determining body fat rate and obesity.Purpose: In this study TMI’s relationship wit...