hrp0092p1-273 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

Hypergonadotropic Hypogonadism in 46, XX Adolescents Without Gonadotoxic Therapy: Clinical Features and Molecular Etiologies

Abali Zehra Yavas , Jolly Angad , Guran Tulay , Bayram Yavuz , Abali Saygin , Bas Serpil , Akdemir Zeynep Coban , Posey Jennifer Ellen , Helvacioglu Didem , Kirkgoz Tarik , Eltan Mehmet , Kaygusuz Sare Betul , Lupski James R , Bereket Abdullah , Turan Serap

Background: Hypergonadotropic hypogonadism(HH) in females results from primary gonadal failure related to genetic defects affecting ovarian development and function or acquired gonadal damage; limited knowledge exist regarding underlying genes involved or potential gene X environment interactions responsible for disease trait manifestations. While pathogenic variants in single genes, chromosomal abnormalities such as Turner syndrome and acquired gonadal damage...

hrp0092p2-131 | Fat, Metabolism and Obesity | ESPE2019

Serum 25-hydroxyvitamin D Levels and Insulin Sensitivity Across Pubertal Stages in Obese Children

Wankanit Somboon , Poomthavorn Preamrudee , Mahachoklertwattana Pat

Background: Decreased serum 25-hydroxyvitamin D (25-OHD) level has frequently been reported in obesity, a condition which is associated with insulin resistance. Insulin resistance was negatively associated with serum 25-OHD. Puberty is the period with altered insulin sensitivity. Previous studies showed conflicting results of the variation of serum 25-OHD levels across pubertal stages. However, data on serum 25-OHD levels across pubertal stages in obese childr...

hrp0092p1-358 | Fat, Metabolism and Obesity (2) | ESPE2019

Relationship Between RBP4 Level and Two of its Gene Polymorphisms with Body Composition and Metabolic Profile in Obese Children

Pascanu Maria-Ionela , Pop Raluca , Banescu Claudia , Hutanu Adina , Vasilache Simona , Marginean Oana

Background: The role of retinol binding protein 4 (RBP4) in the insulin resistance associated with obesity is still unclear and various studies have analyzed the role of its gene polymorphisms as a potential key to understanding the mechanisms involved.Aim: The current study aimed to analyze the relationship between RBP4 levels, the distribution of two SNP (rs3758539 and rs10882280) and the metabolic, anthropometric para...

hrp0092p3-305 | Late Breaking Abstracts | ESPE2019

Combined Surgical and Medical Treatment in an Adolescent with Severe Gynecomastia Due to Excessive Estradiol Secretion: A Case Report

Lee Miseon , Moon JungEun , Woo Ko Cheol , Seok Lee Joon , Dug Yang Jung

Background: Gynecomastia develops due to the reversed estradiol-to-Testosterone ratio in adolescence, and symptoms typically improve within two years. The causes vary widely, including estrogen excess and tumors, and surgical treatment is usually given in late adolescence because postoperative symptoms may recur in adolescents. There are no guiding recommendations for gynecomastia to date besides the suggestion to consider rapidly growing gynecomastia and brea...

hrp0089p3-p056 | Bone, Growth Plate & Mineral Metabolism P3 | ESPE2018

Response to Pamidronate Therapy and Pharmacogenetics in Patients with Osteogenesis Imperfecta

Selveindran Nalini M , Hong Janet YH , Nawawi Nadiah Mohd , Murad Nor Azian Abdul , Jamal Rahman , Latiff Zarina Abdul , Aziz Bilkis Banu Abd , Zakaria Syed Zulkifli Syed , Zain Fuziah Md , Rasat Rahmah

Introduction: Osteogenesis imperfecta (OI), is a genetically heterogeneous connective tissue disorder associated with skeletal fragility, deformity, and growth deficiency. Intravenous bisphosphonate therapy is the mainstay of medical treatment of this condition. Given the paucity of data from Asia we sought to evaluate the genetic epidemiology and the response to pamidronate therapy in a cohort of Malaysian patients.Method: Genetic analysis was performed...

hrp0089p3-p156 | Fat, Metabolism and Obesity P3 | ESPE2018

Neck Circumference and Lipid Profile in Adolescents with Overweight/Obesity

Arrais Ricardo Fernando , Nunes Amanda Caroline Pereira , Andrade Ana Suely de , Souza Angelica Luiza de Sales , Araujo Eduarda Pontes dos Santos , Soares Erika Aparecida de Araujo , Pimentel Jessica Bastos , Teixeira Suerda Isa Nascimento , Souza Thatyane Oliveira , Jaime Viviane Cassia Barrionuevo , Rezende Adriana Augusto de , Lima Severina Carla Vieira Cunha

Introduction: Neck Circumference (NC) has been pointed out as an important indicator in the evaluation of overweight and may be useful to determine the level of obesity and metabolic alterations.Objective: To verify the relationship between the NC and the lipid profile in adolescents with overweight or obesity.Methods: A cross-sectional study with adolescents between 10 and 19 years old, of both sexes attended at the Endocrinology ...

hrp0086p2-p312 | Diabetes P2 | ESPE2016

A Novel Glucokinase Gen Mutation: Mody Type-2 Case

Arasli Yilmaz Aslihan , Elmaogullari Selin , Demirel Fatma , Tayfun Meltem , Ahmet Ucakturk Seyit , Gurbuz Fatih , Kemal Topaloglu Ali

Background: Maturity-Onset Diabetes of the Young (MODY) is a rare monogenic form of diabetes that result in β-cell dysfunction. MODY accounts for 2–5% of all diabetes cases. We presented here a family with MODY2 caused by a novel heterozygous p.L164I (c.490 C>A) mutation of the GCK gene.Case: A 15,5-year-old girl was admitted to our department because of fasting hyperglycemia. She had no polyuria, polydipsia and weight loss...

hrp0086p1-p354 | Gonads & DSD P1 | ESPE2016

Psychological Impact in Young Women of Announcement of a Utero-Vaginal Malformation (Mayer-Rokitansky-Küster-Hauser – MRKH Syndrome) and its Treatment

Gueniche Karinne , Ouallouche Chloe , Nataf Nicole , Bidet Maud , Cheikhelard Alaa , Paniel Bertrand-Jean , Louis-Sylvestre Christine , Morcel Karine , Viaud Magali , Elie Caroline , Baptiste Amandine , Aigrain Yves , Polak Michel

Background: Few studies have addressed the question of psychological impact and long term outcomes in MRKH patients.Objective and hypotheses: Our national multi-centric study aimed to assess MRKH patients’ experience concerning diagnostic announcement, treatment perception, impact on psychic functioning, socio-professional integration, affective and sexual life and quality of life.Method: First 40 MRKH patients aged 19–34...

hrp0086p2-p410 | Gonads & DSD P2 | ESPE2016

Unusual Differential Diagnosis of Hyperandrogenism in Adolescent Female Treated for Polycystic Ovarian Syndrome

Blasi Carolina Di , Amies-Oelschlager Anne-Marie , Ness Kathryn , Giesel Ann

Background: Polycystic ovarian syndrome (PCOS) is the most common cause of oligomenorrhea and hyperandrogenism. Diagnostic criteria for PCOS includes ovarian dysfunction and clinical or biochemical evidence of hyperandrogenism. The differential diagnosis includes congenital adrenal hyperplasia as well as steroid producing tumors.Case presentation: 18-years-old female presented to establish care with a history of PCOS diagnosed at the age of 11 years. She...

hrp0086p1-p627 | Growth P1 | ESPE2016

Change of Growth Pattern and Thickness of Epiphyseal Plate in Female Rats According to Injected Estrogen Dosage

Kang ByungHo , Shim Kye Shik , Lim Sung Jig , Cho Ja Hyang

Objective and hypotheses: The purpose was to get the basic data of optimum serum concentration of estrogen in maximizing pubertal growth spurt, and decreasing the acceleration of epiphyseal closure of long bones.Method: i) Fifteen female SD rats (13-week aged; post pubertal growth spurt) were randomly divided into three groups. After 1 week, the group 1 were injected subcutaneously with sesame oil, as a control, group 2 were with 10 μg/kg per week o...