hrp0086fc12.4 | Neuroendocrinology | ESPE2016

Idiopathic Hypogonadotrophic Hypogonadism Caused by Inactivating Mutations in SRA1

Kotan Leman Damla , Cooper Charlton , Darcan Sukran , Carr Ian , Ozen Samim , Yan Yi , Hamedani Mohammad K. , Gurbuz Fatih , Mengen Eda , Turan Ihsan , Ulubay Ayca , Akkus Gamze , Yuksel Bilgin , Leygue Etienne , Topaloglu Kemal

Background: What initiates pubertal process in humans and other mammals has remained elusive.Objective and hypotheses: We hypothesize that gene(s), whose products trigger the GnRH pulse generator to restart ticking at the usual time of puberty, can be identified via autozygosity mapping together with whole exome sequencing in patients with idiopathic hypogonadotrophic hypogonadism (IHH).Method: We studied a cohort IHH cases. Functi...

hrp0084p2-248 | Diabetes | ESPE2015

Genetic Analysis and Follow-Up of 23 Neonatal Diabetes Mellitus Patients in China

Bingyan Cao , Chunxiu Gong , Di Wu , Chaoxia Lu , Fang Liu , Xiaojing Liu , Ying-xian Zhang , Yi Gu , Zhan Qi , Xiaoqiao Li , Min Liu , Wenjing Li , Chang Su , Xuejun Liang , Mei Feng

Objective: To study the clinical features and gene mutations of neonatal diabetes mellitus (NDM) in Chinese patients.Methods: Patients with clinically diagnosed NDM were subjected to genetic screening by targeted gene capture of the genes associated with glucose metabolism, and followed up.Results: Of the 23 cases of NDM studied, 16 (69.6%) were permanent neonatal diabetes mellitus (PNDM), 6 (26.1%) were transient neonatal diabetes...

hrp0097rfc1.5 | Adrenals and HPA Axis | ESPE2023

Clinical and Genetic Characteristics of 42 Chinese Paediatric Patients with X-Linked Adrenal Hypoplasia Congenita

Zheng Wanqi , Duan Ying , Xia Yu , Liang Lili , Gong Zhuwen , Wang Ruifang , Lu Deyun , Zhang Kaichuang , Yang Yi , Sun Yuning , Zhang Huiwen , Han Lianshu , Gong Zizhen , Xiao Bing , Qiu Wenjuan

Background: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency (PAI) and hypogonadotropic hypogonadism (HH), with limited clinical and genetic characterization.Methods: The clinical, biochemical, genetic, therapeutic, and follow-up data of 42 patients diagnosed with X-linked AHC were retrospectively analysed.Results: Hyperp...

hrp0098p1-304 | Late Breaking 2 | ESPE2024

ER stress relief drives ß-cell proliferation

Bourgeois Stephanie , Staels Willem , Van Mulders Annelore , Willems Lien , Coenen Sophie , Degroote Laure , Pierreux Julie , Leuckx Gunter , Heremans Yves , De Leu Nico , Heimberg Harry , Cnop Miriam , Yi Xiaoyan , Movahedi Kiavash , Kancheva Daliya , Scheyltjens Isabelle , de Koning Eelco , Carlotti Françoise

Introduction: Regenerating endogenous pancreatic β-cells is a potentially curative yet currently elusive strategy for diabetes therapy. Mimicking the microenvironment of the developing pancreas and leveraging vascular signals, critical to pancreatic endocrinogenesis, may promote β-cell regeneration. We aimed to investigate whether recovery from experimental hypovascularization of the endocrine pancreas could trigger mouse ß-cell proliferation.<...

hrp0098p2-316 | Late Breaking | ESPE2024

A critical role for iron import through the transferrin receptor in developing ß-cells.

Van Mulders Annelore , Staels Willem , Lien Willems , Coenen Sophie , Bourgeois Stephanie , Xiaoyan Yi , Yue Tong , Leuckx Gunter , Heremans Yves , De Koning Eelco , Carlotti Francoise , Scharfmann Raphael , Cnop Miriam , De Leu Nico

Introduction: The transferrin receptor (TFRC) is abundant on the surface of ß-cells compared to neighboring α- and ∂-cells, suggesting an important role of iron in ß-cell biology. The precise impact of iron on ß-cell development, function, and survival remains elusive. Here, we investigated the role of iron metabolism in mouse and human ß-cells through chemical and genetic modulation of iron supply.<str...

hrp0089p2-p153 | Fat, Metabolism and Obesity P2 | ESPE2018

Early BMI Trajectory Classes are Linked to Distinct Body Fat Partitioning Later in Childhood

Michael Navin , Ying Ong Yi , Sadananthan Suresh Anand , Aris Izzuddin M , Tint Mya Thway , Lun Wen Yuan , Wei Pang Wei , Ling Loy See , Soh Shu-E , Shek Lynette Pei-Chi , Yap Fabian Kok Peng , Tan Kok Hian , Godfrey Keith M , Gluckman Peter D , Chong Yap Seng , Karnani Neerja , Kramer Michael S , Eriksson Johan G , Fortier Marielle V , Velan S Sendhil , Lee Yung Seng

Background: Growth patterns in infancy and early childhood have been linked to risks of obesity and cardiometabolic disorders in adulthood. Body fat partitioning, particularly increased fat accumulation at ectopic sites, has been strongly associated with cardiometabolic disorders. However, the lack of precise body composition measures in prior longitudinal birth-cohort studies has made it difficult to ascertain if early growth patterns could result in consolidation of distinct...

hrp0089p3-p278 | Multisystem Endocrine Disorders P3 | ESPE2018

Pallister Hall Syndrome: with a Varied Spectrum of Endocrine Disorders

Ramachandran Smita , Sethi Aashish , Kochar Inderpal

Introduction: Pallister Hall Syndrome (PHS) is a rare autosomal dominant disorder clinically diagnosed by hypothalamic hamartoma, mesoaxial or postaxial polydactyly, and can have several endocrine abnormalities associated with.Case: We report a case of a 7 year old boy presented with precocious puberty and short stature. He was the youngest of 11 siblings, who used to have laughing spells and global developmental delay till four years of age. He had an M...

hrp0094p2-150 | Diabetes and insulin | ESPE2021

PIMS-TS [Paediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2 (Covid-19)] in a child with new onset type 2 diabetes

Sakka Sophia , Mohan Meena , Price Abigail , Handforth Jennifer , Wong James , Nyman Andrew , Ponmani Caroline ,

Introduction: PIMS-TS [Paediatric Inflammatory Multisystem Syndrome Temporally associated with SARS-CoV-2] is a unique clinical complication of COVID -19 infection in paediatric patients. We report a case of a child presenting with PIMS-TS and new onset type 2 diabetes.Presentation: A previously healthy 15 year old boy of Bengali-Indian origin presented to the hospital with polyuria, polydipsia, dry cough, abdominal pain and 1 episode of...

hrp0089p3-p285 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Panhypopituitarism with Tall Stature Diagnosed in a 20 Years Old Boy

Forrester Andrea , Cecchi Griselda , Perez Guadalupe , Soria Luciana , Masllorens Francisca , Juarez Sofia , Vallone P.M. Constanza , Grassi Magdalena

Background: Growth hormone plays a primary role in stimulating postnatal growth by way of insulin-like growth factor 1 (IGF1) which is produced in the liver in response to GH. A deficiency of GH arrests maturation during childhood, and the stature of such subjects is generally much shorter than the average stature. However, some cases of GH deficiency attain normal stature as adults.Case presentation: A 20 years old man was referred for a further evaluat...

hrp0089p3-p376 | Thyroid P3 | ESPE2018

An Impressive Recovery of Arrested Growth and Puberty in a 13 Year Old Boy after Being Treated for Simultaneously Diagnosed Severe Hypothyroidism and Coeliac Disease

Fafoula Olga , Panagouli Eleni , Panagiotakou Argyro , Mpeni Maria , Georgila Chrisitina , Korovessi Paraskevi , Kostaridou Stauroula

Background: Individuals with celiac disease are more likely to develop autoimmune thyroid disease compare to the general population and vice versa. Undiagnosed in childhood and adolescence, both diseases compromise final height. Clinical experience shows that near complete catch-up growth is possible in infants and young children, but not in children near or in puberty.Objectives: To report on the impressive acceleration of arrested growth in a 13 year o...