hrp0094p1-46 | Sex Endocrinology and Gonads A | ESPE2021

Endocrine & Molecular Genetic Findings In XY Boys Investigated For A Disorder Of Sex Development: the Glasgow Experience

Alimussina Malika , Patjamontri Supitcha , Lucas-Herald Angela K , McMillan Martin , McNeilly Jane D , Diver Louise A , Tobias Edward S , McGowan Ruth , Ahmed S Faisal ,

Introduction: Advances in diagnostic capability in the field of DSD hold great promise but need a regular review.Objectives: To study the range of endocrine and molecular genetic variation in a group of boys undergoing investigation for XY DSD.Methods: 157boys with median age of 0.9yrs (range,0,18) evaluated by the DSD Diagnostic Board in Glasgow from 2016to 2021 were included. Seq...

hrp0094p2-478 | Thyroid | ESPE2021

A child with anti-thyroid arthritis syndrome

Kilci Fatih , Sönmez Hafize Emine , Jones Jeremy , Közler Selen Hürmüzlü , Çizmecioğlu Jones Filiz Mine

Introduction: Anti-thyroid arthritis syndrome (AAS) is a rare complication that may occur in patients treated with anti-thyroid drugs. Presentation is variable and may include myalgia, arthralgia, skin rash, high fever, and polyarthritis. Herein, we present a girl diagnosed with AAS. Case report: A 9-year-old girl was admitted to emergency complaining of fever and arthralgia. She was the second child of non-consanguineous healthy parents. She had been d...

hrp0097fc3.6 | Fat, metabolism and obesity 1 | ESPE2023

Impact of Setmelanotide on Future Metabolic Syndrome Risk in Pediatric Patients With Bardet-Biedl Syndrome

Haqq Andrea , Poitou Christine , K. Chung Wendy , Iqbal Anoop , Forsythe Elizabeth , Malhotra Sonali , Touchot Nicolas , Clément Karine , Argente Jesús

Background: Children with metabolic syndrome carry an increased risk for development of type 2 diabetes mellitus (T2DM) and cardiovascular disease (CVD) in adulthood. Patients with rare syndromic obesity, such as Bardet-Biedl syndrome (BBS), experience early-onset, severe obesity, which may convey an increased risk for developing obesity-related comorbidities and metabolic syndrome later in life. In clinical trials, treatment with the melanocortin-4 receptor a...

hrp0097fc7.3 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

ROS scavengers may improve genital skin healing in boys with hypospadias

K Lucas-Herald Angela , Hussain Samra , McGinley Kirsty , O'Toole Stuart , Flett Martyn , Steven Mairi , Lee Boma , Basith Amjad S , Faisal Ahmed S

Introduction: Hypospadias is often associated with reduced testosterone synthesis or action. High rates of complications are reported with surgical repair of hypospadias, including wound dehiscence. Boys with hypospadias have previously been demonstrated to have increased reactive oxygen species (ROS) compared to healthy controls and there is a known link between male hypogonadism and oxidative stress. It is not clear what effect ROS has on wound healing in bo...

hrp0097fc8.5 | Fat, metabolism and obesity 2 | ESPE2023

Impact of Setmelanotide on Metabolic Syndrome Risk in Pediatric Patients With POMC and LEPR Deficiency

Wabitsch Martin , K. Chung Wendy , Kühnen Peter , Swain James , C. Garrison Jill , Touchot Nicolas , Argente Jesús , Clément Karine

Background: Patients with rare monogenic obesity caused by biallelic variants of genes such as proopiomelanocortin (POMC; including variants in PCSK1) or leptin receptor (LEPR) deficiency, experience hyperphagia (a pathologic, insatiable hunger) and early-onset, severe obesity. This suggests potential increased risk over time of obesity-related comorbidities, including metabolic syndrome, a cluster of conditions associated with increased risk of cardiovascular...

hrp0097p1-189 | Thyroid | ESPE2023

Anemia-based Screening for Resistance to Thyroid Hormone Alpha in Children

Akın Kağızmanlı Gözde , Kırbıyık Özgür , Abacı Ayhan , Böber Ece , Yiş Uluç , Demir Korcan

Background: Resistance to thyroid hormone alpha (RTH-α) is characterized by varying degrees of symptoms and findings related to hypothyroidism. However, diagnosis is difficult since thyroid-stimulating hormone (TSH) levels are normal. Free triiodothyronine (fT3) and free thyroxine (fT4) levels can also be normal, but normo- or macrocytic anemia is generally present in the reported cases. L-thyroxine can alleviate some symptoms; however, there is limited ...

hrp0098t11 | Top 20 Posters | ESPE2024

Postnatal detection of sex chromosome abnormalities by quantitative fluorescence polymerase chain reaction – potential for newborn screening

Mains Balle Camilla , Launholt Lildballe Dorte , Bedei Ivonne , Skakkebæk Anne , Chang Simon , Enrique Schäfer Ramon , Becker-Follmann Johannes , Højbjerg Gravholt Claus

Introduction: Sex chromosome abnormalities (SCAs) are genetic conditions characterized by deviations in the number or structure of the sex chromosomes, present in 1 in 400 newborns. Despite their clinical significance, many patients with SCAs are diagnosed late in life or remain undiagnosed, leading to delayed or inadequate medical intervention. Karyotyping, the gold standard for diagnosis, is unsuitable for population-based newborn screening, as it is time-co...

hrp0098t18 | Top 20 Posters | ESPE2024

DNA methylation level at five specific CG-sites within TRAK1 correlates with the neurocognitive profile in individuals with Klinefelter syndrome.

Bandsholm Leere Tallaksen Helene , B. Johannsen Emma , Berletch Joel , Deng Xinxian , Filippova Gala , H. Gravholt Claus , Disteche Christine , Just Jesper , Skakkebæk Anne

Background: Klinefelter syndrome (47,XXY; KS) influences neurodevelopment, resulting in a neurocognitive profile with a more pronounced impact on verbal IQ compared to performance IQ. Additionally, KS is linked to changes in the epigenome and transcriptome. The relation between these epigenetic and genetic changes and the neurocognitive phenotype has yet to be determined.Methods: We conducted a comprehensive and integrat...

hrp0098p2-69 | Diabetes and Insulin | ESPE2024

Venous Sodium, Potassium, and Glucose Results on Rapid Arterial Blood Gas Analyzer in Children with Diabetic Ketoacidosis: Are the Values Comparable with Results Obtained from the Central Laboratory?

Güneş Sebla , Öztürk Sercan , Şafak İlhan , Deveci Sevim Reyhan , Ünüvar Tolga , Anık Ahmet

Introduction: This retrospective study aim ed to assess the correlation between whole blood electrolytes measured by an arterial blood gas analyzer and serum electrolytes measured at a central laboratory, of patients with diabetic ketoacidosis (DKA).Materials and Methods: Children (1-18 years old) with DKA, followed up at Aydın Adnan Menderes University Faculty of Medicine Hospital between January 2017 and August 2...

hrp0098p2-324 | Late Breaking | ESPE2024

HOMA and Matsuda Index as Screening Tests for Cystic Fibrosis Associated Diabetes in Children

Albayrak Serpil , Arık Elif , Keskin Ozlem , Karaoglan Murat , Keskin Mehmet , Inal Gaye , Cesur Mahmut , Küçükosmanoğlu Ercan , Yıldırım Ahmet

Objective: Cystic fibrosis (CF) associated diabetes (CFRD) is a common comorbid condition in individuals with CF and its prevalence increases with age. There are reports in children aged 10 years and younger. The aimof this study was to estimate insulin resistance by HOMA-IR (Homeostatic Model Assessment) with oral glucose tolerance test (OGTT) data and Matsuda index to test glucose metabolism in relation to Matsuda insulin secretion in children with CF.<p...