hrp0097p1-264 | Fat, Metabolism and Obesity | ESPE2023

Implementation of the EOSS-P Risk Scale in children and adolescents living with obesity

Gonzalez Diego , Rodriguez Roberto , Garibay-Nieto Nayely , Villanueva-Ortega Eréndira , Aguilar-Cuarto Karina , Pedraza Karen , Fuentes Zendy , Ruiz Alejandra , María Hernandez Ana , Prado Edith , Ruiz Arturo

Body Mass Index (BMI) has a high association with body fat percentage and direct association with a higher degree of comorbidities. Categorizing patients only by the degree of obesity, as has been done over time, restricts the possibility of detecting and giving timely treatment to other aspects. The Edmonton Obesity Staging System for Pediatrics (EOSS-P) has been proposed as a tool to categorize obesity not only by BMI, but also by assessing metabolic complications, functiona...

hrp0095p2-168 | Growth and Syndromes | ESPE2022

Two siblings whose differential diagnosis with rickets; Schmid Metaphyseal Chondrodysplasia

Sarikaya Emre , Gok Ebru , Kara Leyla , Berber Mg ur , Gul Siraz Ulku , Hatipoglu Nihal

Entry: Rickets is a generalized metabolic bone disease manifested by the abnormal increase in osteoid tissue, defective mineralization and deformation of the epiphyseal plate, which occurs as a result of vitamin D and mineral deficiency before epiphysial fusion occurs in adolescence. Although rickets is mostly seen due to vitamin D deficiency, it can rarely be seen in vitamin D metabolism disorders and diseases that cause phosphorus loss. Clinical findings suc...

hrp0097rfc8.5 | Fat, metabolism and obesity 2 | ESPE2023

Effects of leptin knockdown on a human preadipocyte model

Fuchs Lasse , Jasaszwili Mariami , Richter Sandy , Kirstein Anna , Engelberger Felipe , Künze Georg , Meiler Jens , Lemke Johannes , Kiess Wieland , Le Duc Diana , Garten Antje

Obesity presents a major worldwide challenge, due to its numerous, severe adverse effects on health. This leads to a necessity to further investigate the mechanisms underlying lipid accumulation. The adipocytokine leptin may contribute to this process. While there already has been thorough research into central leptin action, deepening our understanding of leptin’s effects on whole-body energy homeostasis, relatively little is known about its auto- and paracrine effects....

hrp0095rfc6.4 | Sex Development and Gonads | ESPE2022

Sertoli cell dysfunction at diagnosis in children with haematological malignancies

Lopez Dacal Jimena , Prada Silvina , Gabriela Ropelato Maria , Gabriela Ballerini Maria , Eugenia Rodriguez Maria , E. Gutierrez Marcela , Soria Marcela , Morán Lorena , Ferraro Cristina , Bedecarrás Patricia , Drelichman Guillermo , Aversa Luis , Bergadá Ignacio , A. Rey Rodolfo , P. Grinspon Romina

Aim: To determine Sertoli cell function at diagnosis and after 3 months of chemotherapy.Methods: A prospective cohort study was performed including children with acute lymphoblastic leukaemia, acute myeloid leukaemia, or non-Hodgkin lymphoma. Serum levels of AMH were evaluated at diagnosis and after 3 months during chemotherapy. Results were analysed as standard deviation scores according to pubertal stage and expressed ...

hrp0089rfc14.6 | Multisystem Endocrine Disorders | ESPE2018

Identification of Epithelial Sodium Channel (ENaC) in Endometrial Pipelle Biopsy Samples

Boggula Vijay , Hanukoglu Israel , Sagiv Ron , Enuka Yehoshua , Hanukoglu Aaron

Background: The fluid milieu along the female reproductive tract has a major role in a complex series of events that follow oocyte ovulation. These include oocyte transport in the fallopian tube, the transport and capacitation of sperm, fertilization, transport of the blastocyst and implantation of the embryo in the uterus. These processes are regulated by the activity of ion channels located on the surface of endometrial epithelia. In our previous studies we showed that epith...

hrp0097p1-66 | Fat, Metabolism and Obesity | ESPE2023

Leptin treatment affects adipose progenitor cells physiology

Jasaszwili Mariami , Fuchs Lasse , Richter Sandy , Kirstein Anna , Kiess Wieland , Le Duc Diana , Garten Antje

Introduction: Leptin, an adipokine secreted mainly by adipose tissue, is a regulator of energy balance acting through central mechanisms on the hypothalamus. However, leptin has many functions regulating e.g., immune system and reproduction. Leptin exerts its biological effects through its receptor, the expression of which has been demonstrated in several tissues. There are several leptin receptor isoforms, but activation of only one of them, the long form, re...

hrp0097p2-121 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Clinical findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG)

Masunaga Yohei , Nishimura Gen , Takahashi Koji , Kashimada Kenichi , Kadoya Machiko , Wada Yoshinao , Okamoto Nobuhiko , Oba Daiju , Ohashi Hirofumi , Ikeno Mitsuru , Fukami Maki , Saitsu Hirotomo , Ogata Tsutomu

Background: N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG) is a recently established rare autosomal recessive disease caused by pathogenic variants in NANS involved in the biosynthesis of N-acetylneuraminic acid (the most common member of sialic acids). Sialic acids are ubiquitously distributed in the body including the brain and skeletal system, and are required for the development and function of multiple organs/tissues. C...

hrp0097p2-254 | Late Breaking | ESPE2023

Decrease in the percentage of eutrophic adolescents in Brazil, temporal evaluation from 2010 to 2022.

M de Jesus Luciana , B D de Sousa Mariana , P de Oliveira Nayara , de S Gomes Laís , M Pinto Renata

Introduction: Adequate nutritional status of adolescents is essential for their healthy development, with health repercussions in both short-term and adult life.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2022.Patients and methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The BMI cat...

hrp0092rfc15.2 | Late Breaking Abstracts | ESPE2019

BMP4 Mutations as a Novel Cause of Normosmic Hypogonadotropic Hypogonadism

Topaloglu A. Kemal , Yildirim Ruken , Damla Kotan Leman , Akkus Gamze , Unal Edip , Turan Ihsan , Dilek Semine , Tastan Mehmet , Gurbuz Fatih , Yuksel Bilgin

BMP4, a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily, is involved in the embryonic development of various organ and tissues including the cranio-facial structures, olfactory placode, pituitary, eyes, heart, and kidneys. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. BMP4 plays an important role in the embryonic development of the GnRH neurons ...