hrp0092p1-266 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology (1) | ESPE2019

A Nationwide Study of the Prevalence & Initial Management of Atypical Genitalia & Delayed Sex Assignment in the Newborn

Rodie Martina , Ali Salma , Jayasena Arundathi , Al-Enazi Naser , McMillan Martin , Cox Kathyrn , Cassim Sumaiya M. , Henderson Stuart , Ahmed S.Faisal

Background: The prevalence of atypical genitalia and the time taken to assign sex in such cases remains unclear. Provision of optimum healthcare during this period requires a clear understanding of the occurrence of atypical genitalia.Methods: Prospective electronic survey of clinical members of managed clinical networks in Scotland between 2013 and 2018 seeking notification of term neonates requiring specialist input fo...

hrp0095p1-465 | Fat, Metabolism and Obesity | ESPE2022

Use of liraglutide for treatment of childhood obesity: early experiences from a tier 3 paediatric obesity service

Hawton Katherine , Wenn Melanie , Hamilton-Shield Julian , Giri Dinesh

Background: Liraglutide is a glucagon-like peptide analogue which was approved for use in children and young people as an option for managing obesity in December 20201. It is to be used in tier 3 services alongside a reduced-calorie diet and increased physical activity in children more than 12 years if they have a BMI SDS age-equivalent more than 30kg/m2 for adults. We describe our initial experiences of using liraglutide in a tier 3 paed...

hrp0092p1-30 | Diabetes and Insulin | ESPE2019

Effects of Glypican-4 Protein on INS1E Cell Viability and Insulin Signalling

Buhl Joseph , Garten Antje , Richter Sandy , Kiess Wieland , Penke Melanie

Background: Glypican-4 is a heparan sulphate proteoglycan. In addition to a membrane-bound glypican-4, a soluble form exists. Human and rodent adipose tissue were identified as source of circulating glypican-4. Glypican-4 serum levels are associated with obesity and insulin resistance, as in type 2 diabetes (T2D). Because of its positive effect on insulin sensitivity, glypican-4 might play a role in the development of obesity, insulin resistance, and T2D. We a...

hrp0082p1-d2-213 | Reproduction (1) | ESPE2014

The Association of Moebius Syndrome and Kallman Syndrome is Due to a Specific Mutation of TUBB3

Amouyal Melanie , Bouvagnet Patrice , Rochette Galliane , de Roux Nicolas

Background: Between the 6000 monogenic disorders, only few are due to a single mutation. Recently, a specific mutation has been described in TUBB3, encoding tubulin beta 3, in the association of Moebius syndrome (MS) and Kallmann syndrome (KS). MS is a congenital paralysis of eye and face’s muscles and can be caused by mutations of TUBB3. KS combines hypogonadotropic hypogonadism and anosmia.Objective and hypotheses: The combination of these two syn...

hrp0082p2-d2-525 | Pituitary (1) | ESPE2014

Challenging Treatment of Gigantism in a Boy with McCune–Albright Syndrome

Hess Melanie , Bachmann Sara , Szinnai Gabor , Zumsteg Urs

Background: McCune–Albright syndrome (MAS) is a complex disorder characterized by the triad of fibrous dysplasia of multiple bones, café-au-lait skin macules and endocrinopathies.Objective and hypotheses: Long-term treatment of a boy with gigantism due to MAS.Method: Case report.Results: We present the clinical course of a now 14 years old boy with MAS and GH excess, clinical signs of precocious pub...

hrp0084p3-592 | Adrenals | ESPE2015

Atypical Prednisone-Metabolism: Pharmacological Studies in a Boy with Classical Adrenal Hyperplasia and Suspected Malcompliance

Hess Melanie , Derungs Adrian , Zumsteg Urs W , Szinnai Gabor

Background: We present a boy with classical adrenal hyperplasia (CAH) and constantly increased 17-OH-progesterone (17-OH-P) values despite multiple dose adjustments of hydrocortisone up to 18 mg/m2 body surface and addition of fludrocortisone. After puberty, therapy was changed from hydrocortisone to prednisone without improvement of the 17-OH-P values. Non-compliance was suspected as cause of the inadequately controlled CAH. Alternatively, an atypical steroid metab...

hrp0084p3-725 | Diabetes | ESPE2015

Frequent and Prolonged Daytime Hypoglycemia in Diabetic Children Detected by Continuous Glucose Monitoring: A Problem of Hypoglycaemia Unawareness?

Bachmann Sara , Metzger Kerstin , Hess Melanie , Zumsteg Urs

Background: Hypoglycaemia represents a common issue in diabetic children, and the achievement of good metabolic control together with the avoidance of hypoglycemia remains a tightrope walk. As hypoglycaemia is not always recognised, data about hypoglycemia frequency are limited.Aims: We previously reported about nocturnal hypoglycaemia in diabetic children. This study now focusses on the frequency and duration of hypoglycemia at daytime and risk factors ...

hrp0097rfc9.1 | Diabetes and insulin 2 | ESPE2023

The association of dietary glycemic index and load with insulin sensitivity and secretion from early childhood to late adolescence: the QUALITY cohort

Cattrysse Pascaline , Harnois-Leblanc Soren , Sallah Drammeh Pa , Drapeau Vicky , A. Barnett Tracie , Mathieu Marie-Ève , Suissa Karine , Benedetti Andrea , Henderson Mélanie

Introduction: With the increasing prevalence of obesity, prediabetes and type 2 diabetes (T2D) in youth are on the rise. Prevention is paramount for these multifactorial diseases. Dietary interventions targeting a reduction of dietary glycemic index (GI) and glycemic load (GL) are potential strategies for improving insulin resistance. However, the association between GI and GL and T2D risk in children remains uncertain.Objectives...

hrp0092p1-57 | Fat, Metabolism and Obesity | ESPE2019

Put Your Money Where Your Mouth is: Preliminary Evidence that Oral Microbiota Diversity may Shape Later Cardiometabolic Health in Children

Henderson Mélanie , Nicolau Belinda , Van Hulst Andraea , Simoneau Gabrielle , Barnett Tracie A. , Drapeau Vicky , Tremblay Angelo , Mathieu Marie-Ève , Paradis Gilles , Zappitelli Michael , Varin Thibaut , Marette André

Background: Emerging evidence suggests a link between the intestinal microbiota and cardiometabolic outcomes in both children and adults. The oral microbiota is less studied, and the association between the oral microbiota and cardiometabolic health in childhood remains largely unknown.Objective: To explore the associations between oral microbiota diversity measured at 8-10 yr and cardiometabolic health in childhood and ...

hrp0092p1-197 | Fat, Metabolism and Obesity (1) | ESPE2019

You are What You Eat: Preliminary Evidence of Associations Between Dietary Habits and Oral Microbiota Composition in Early Childhood

Henderson Mélanie , Nicolau Belinda , Van Hulst Andraea , Simoneau Gabrielle , Barnett Tracie A. , Drapeau Vicky , Tremblay Angelo , Mathieu Marie-Eve , Paradis Gilles , Zappitelli Michael , Varin Thibaut , Marette André

Background: Oral microbiota composition and diversity differ between obese and non-obese individuals. However, the associations between lifestyle habits (implicated in the pathogenesis of obesity) and the oral microbiota remain uncertain, particularly among children.Objective: To explore the associations between oral microbiota diversity and lifestyle habits among 8-10 year-old children.Met...