hrp0098p2-394 | Late Breaking | ESPE2024

Identification of GNAS somatic variants in whole blood dna from patients with ovarian-origin peripheral precocious puberty using droplet digital pcr

Guimaraes Faria Aline , R Montenegro Luciana , Augusto Lima Jorge Alexander , Matsunaga Martin Regina , Candida B. V. Fragoso Maria , R Tinano Flavia , E Seraphim Carlos , Pinheiro Machado Canton Ana , Garcia Gomes Larissa , A Martos-Moreno Gabriel , Tarjuelo García Irene , Carcavilla Atilano , Tirado-Capistros Mireia , Christina Souza-Pinto Nadja , Argente Jesús , Bilharinho Mendonca Berenice , Claudia Latronico Ana , Nahime Brito Vinicius

Background: GNAS activating mutations are the genetic basis of McCune-Albright syndrome (MAS). Peripheral precocious puberty (PPP) due to functional ovarian cysts, with or without MAS features, denotes a potential GNAS -related disorder.Aim: To explore GNAS somatic mutations (p.R201C/H) in peripheral leukocyte DNA using ddPCR in girls with ovarian-origin PPP with or without MAS.<p class="ab...

hrp0094p2-316 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Determining factors of a good response to treatment with growth hormone for the first 2 years

de Arriba Antonio , Cancela Vanesa , Juan Alcon Jose , Beisti Anunciacion , Ferrer Marta , Labarta Jose Ignacio ,

Objectives: - To establish the main factors on which a good response to GH treatment depends. - To study the optimum adherence values. - To study the impact of the loss of adherence in the treatment with GH.Materials and Methods: This is a non-interventional, retrospective observational study, by reviewing medical records of patients undergoing GH treatment for at least 2years due to GHD or SGA. Patients received treatment with Saizen&#1...

hrp0092p3-8 | Adrenals and HPA Axis | ESPE2019

Typical Phenotype of Isolated Aldosterone Synthetase (AS) Deficiency in two Infants with Heterozygous AS Gene Mutation: Dilemma for Diagnosis

Ozsu Elif , Ceran Aysegul , Uyanik Rukiye , Bilici Esra , Cetin Tugba , Siklar Zeynep , Aycan Zehra , Berberoglu Merih

Introduction: Isolated hypoaldestronism is a rare endocrinopathy in a limited number of patients who secrete normal level of cortisol, due to mutation in CYP11B2. In some cases clinical diagnosis can be late and genetic analysis showed difficulties.Case 1: A 7 month-old girl infant was referred to endocrinology department due to womiting, failure to thrive and severe hyponatremia with unexplained neutropenia. She was bor...

hrp0092p3-219 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Final Adult Height in SRY-Negative 46,XX Ovotesticular Differences of Sex Development Individuals

Martins Ferrari Maria Tereza , Moraes Rodrigues Daniela , Lisboa Gomes Nathalia , Yumi Nishi Mirian , Loch Batista Rafael , Maria Frade Costa Elaine , Bilharinho Mendonca Berenice , Domenice Sorahia , Marques Cruz Patricia Sales , Sircili Maria Helena

Introduction: Differences of sex development (DSD) encompass a variety of conditions with atypical development of chromosomal, gonadal or anatomic sex. 46, XX ovotesticular (OT) DSD is a rare condition, in which the presence of testicular and ovarian tissues is identified in the same individual. These patients present variable phenotypes with a wide spectrum of atypical genitalia and their sex assignment can be male or female. Short stature is a frequent issue...

hrp0086rfc1.3 | Adrenals | ESPE2016

Impaired Cardiac Function in a Mouse Model of Generalized Glucocorticoid Resistance

Lamprokostopoulou Agaristi , Varela Aimilia , Katsimpoulas Michalis , Dimitriou Constantinos , Athanasiadis Nikos , Soultou Eleana , Stefa Alketa , Mavroides Manolis , Davos Constantinos H. , Chrousos George P. , Kino Tomoshige , Georgopoulos Spiros , Charmandari Evangelia

Background: Glucocorticoids regulate a broad spectrum of physiologic functions essential for life and exert their actions through their ubiquitously expressed glucocorticoid receptor (GR). The GR interacts with several molecules, including the non-coding RNA growth arrest-specific 5 (Gas5), which decreases the transcriptional activity of the GR by preventing its binding to DNA, and reduces tissue sensitivity to glucocorticoids.Objective and Hypotheses: T...

hrp0095p2-93 | Fat, Metabolism and Obesity | ESPE2022

The Relationship Between Serum AMH Levels and Puberty in Obese Girls

Sarikaya Emre , Cicek Dilek , Gok Ebru , Kara Leyla , Gul Siraz Ulku , Hatipoglu Nihal

Objectives: Anti-Müllerian hormone (AMH) is produced by Sertoli cells in the testicles and granulosa cells in the ovaries. Increased abdominal adipose tissue initiates metabolic and endocrine disorders and predisposes to polycystic ovary syndrome. AMH is used as a marker in PCOS. A decrease in AMH levels has been reported in adults with obesity and increased central adiposity. The purpose of this study was to assess the serum AMH level and related factors...

hrp0086p2-p523 | Fat Metabolism and Obesity P2 | ESPE2016

Body Image Perception Changes in Obese and Lean Children

Viazava Liudmila , Solntsava Anzhalika , Sukalo Alexander

Background: Body image (BI) is subjective picture of one’s own physical appearance established both by self-observation and by noting the reactions of others. Different BI scales used for screening of the Binge Eating symptoms that strongly linked to obesity.Objective and hypotheses: We supposed to get differences in the own body image perception in overweight and lean children.Method: BI questionnaire (BIQ) and own body satis...

hrp0092p3-2 | Adrenals and HPA Axis | ESPE2019

A Rare Cause of Primer Adrenal Insufficiency: NROB1 (DAX1) Mutation

Koprulu Ozge , Acar Sezer , Nalbantoglu Ozlem , Kirbiyik Ozgur , Arslan Gulcin , Ozkaya Beyhan , Ozdemir Taha Resid , Ozkan Behzat

Introduction: Congenital adrenal hypoplasia, a rare cause of childhood primer adrenal insufficiency, is caused by defects in transcription factors involved in the development of adrenal gland. One of them is the NROB1 (DAX1) gene, localized in Xp21.2. DAX1 mutations have been identified that cause X-linked adrenal hypoplasia congenita. Infants affected with X-linked adrenal hypoplasia congenita may present with salt-wasting, micropenis or cry...

hrp0089p2-p177 | Fat, Metabolism and Obesity P2 | ESPE2018

The Effects of the Birth Weight on the Fat Distribution and Fatness Parameters of the Body

Hatipoğlu Nihal , Direk Gul , Hepokur Merve Nur , Tatlı Zeynep Uzan , Cicek Betul , Unalan Demet , Mazıcıoğlu M. Mumtaz , Ozturk Ahmet , Kurtoğlu Selim

The weight of birth affects the weight status and fat distribution in the later period of life. It is suggested that both low and high birth weight pose a risk for cardiometabolic diseases. In this study, the effects of birth weight on body fat mass and body fat distribution parameters during childhood and adolescence period were evaluated.Method: In this cross-sectional study, 4581 children ages between 6-17 years at primary and secon...

hrp0098p3-332 | Late Breaking | ESPE2024

Chest Physiotherapy and Growth in preadolescents Algerians Children with Cystic Fibrosis: The Experience of a single center.

Oussalah Meriem

Background: Growth failure has long been cited as the main endocrine complication of cystic fibrosis. But with the therapeutic advances, this retardation is less observed; however, access to these therapies is not the same in all countries.Objective: To evaluate the influence of respiratory physiotherapy on growth in patients with cystic fibrosis outside in childrens from the age of 8 years "the beginning of childre...