hrp0082p2-d2-338 | Diabetes (1) | ESPE2014

Urinary Vitamin E Metabolites as a Biomarker of Oxidative Stress in Type 1 Diabetes

Bulwer Chloe , Hindmarsh Peter , Pope Simon , Tollerfield Sally , Sirka Ernestas , Mills Kevin

Background: Oxidative stress has been implicated in the development and progression of complications in type 1 diabetes (T1DM). Vitamin E (α-tocopherol) undergoes β-oxidation of its chomanol ring and the resulting metabolite α-TLHQ has been proposed as a potential biomarker of oxidative stress. HbA1c relates in T1DM to microvascular complications predominantly although the end-points are late in disease development. The oxidative stress process may act independe...

hrp0082p2-d3-479 | Hypoglycaemia | ESPE2014

The Majority of Late Presenting Congenital Hypoglycaemia Disorders are Really Missed Diagnosis: What Can we do to Improve Diagnosis in the New-Born Period?

Troung Lisa , Thornton Paul

Background: Patients with hyperinsulinism (HI) and anterior hypopituitarism often present in the new-born period (NBP). However up to 30% patients with HI and an unknown number with hypo-pit will present in the first year of life. Despite advances in care the long-term neurological outcome for patients with HI is poor in 20-40% cases.Aim: To retrospectively evaluate the care given during the NBP in a series of patients diagnosed with late presenting pote...

hrp0082p3-d2-965 | Sex Development (1) | ESPE2014

Mosaicism Ratios of 45,X to 46,X IdicY Explained a Phenotype in a Case with Mixed Gonadal Dysgenesis

Hatano Megumi , Fukuzawa Ryuji , Hasegawa Yukihiro

Background: Patients with mixed gonadal dysgenesis (MGD), whose prototypical karyotype is 45,X/46,XY may manifest complications characteristic of Turner’s syndrome. We here present a 10-year-old male with MGD who had coarctation of aorta. At birth, he was found to have hypospadias, bifid scrotum and cryptorchidism. Chromosomal analysis of lymphocytes revealed a karyotype of 46,X idic Y (23)/45,X (7). Left gonadectomy was performed in infancy and the removed gonad showed s...

hrp0084p2-270 | Diabetes | ESPE2015

Growth and Endocrinopathy in Wolfram Syndrome: The Experience of a Nationally Commissioned Specialist Clinic

Kershaw Melanie , Gleeson Susan , Williams Denise , Gupta Rajat , Ainsworth John , Kulkarni Archana , McCarthy Liam , MacPherson Lesley , Bates Rachel , McGee Marie , Barrett Timothy G

Background: Wolfram syndrome (WS) is a monogenic disorder associated with diabetes mellitus (DM), optic atrophy, diabetes insipidus (DI), neurological deterioration and deafness. Growth has been poorly characterised in case series.Objective and hypotheses: To determine growth and prevalence of endocrine disorders, qualify therapies and metabolic outcome for DM, and relationship of cranial MRI findings to clinical findings in children and young people (CY...

hrp0084p3-642 | Bone | ESPE2015

Comparison of Treatment Alternatives for Hypercalcemia due to Vitamin D Intoxication in Children

Demir Korcan , Doneray Hakan , Yesilkaya Ediz , Kara Cengiz , Atay Zeynep , Cetinkaya Semra , Cayir Atilla , Anik Ahmet , Eren Erdal , Demirel Fatma , Yilmaz Gulay Can , Ergur Ayca Torel , Kendirci Mustafa , Aycan Zehra , Bereket Abdullah , Aydin Murat , Orbak Zerrin , Ozkan Behzat

Background: No large study comparing efficiency of prednisolone, alendronate and pamidronate has been conducted so far in children with hypercalcemia due to vitamin D intoxication.Objective and hypotheses: To perform a multicentre, retrospective study assessing clinical characteristics and treatment results.Method: A standard questionnaire was uploaded to an online national database system (www.favorsci.org) to collect data of chil...

hrp0084p3-825 | Endocrine Oncology | ESPE2015

GH and Prolactin Secreting Adenoma in an Adolescent Boy

Dursun Fatma , Kirmizibekmez Heves , Dagcinar Adnan

Background: Pituitary gigantism is a rare disorder. Paediatric endocrinologists may see at most one or two patients during their careers. In one large series of 2367 children and adolescents with pituitary adenomas, only 15 (0.6%) had pituitary gigantism. Much of our understanding is derived from isolated case reports and extrapolation from the adult literature. No sex predilection is known. Gigantism may occur at any age, and has been observed as early as the first 6–9 m...

hrp0084p3-876 | Fat | ESPE2015

Obesity has a Significant Impact on Hyperandrogenemia Only after Puberty in Korean Girls

Kang Min Jae , Shim Young Suk , Oh Yeon Joung , Hwang Il Tae , Yang Seung

Background: As metabolic complication and polycystic ovarian syndrome due to childhood obesity is rising, the role of hyperandrogenemia (HA) and hyperinsulinism is receiving attention.Objective and hypotheses: The aim of this study was to investigate the presence or absence of obvious HA according to pubertal status and to find potential etiologic determinants of HA in Korean obese girls.Method: We analysed 91 subjects aged 6–...

hrp0094p2-108 | Diabetes and insulin | ESPE2021

Impact of the COVID19 pandemic on Paediatric Diabetes Services in Arab Countries

Alsaffar Hussain , Hadi Wasnaa ,

Introduction: The COVID19 pandemic had an impact on different health services due to the lockdowns, curfews, or reducing provision of some clinical services in order to minimise the infection spread. Cancellation of clinic appointments was observed. Some patients also did not attend their appointments due to the fear of contracting the infection.Objectives: This study looked at the impact of the pandemic on the paediatri...

hrp0097p1-389 | Thyroid | ESPE2023

Long-term follow-up of congenital hypothyroidism and predictors of permanent congenital hypothyroidism

Yang Jaejin , Yu Jeesuk

Purpose: Congenital hypothyroidism (CH) is a state in which thyroid hormones are insufficient at birth. This condition may last for a lifetime or may be transient. Due to the universal newborn screening test, almost all newborns are being screened for thyroid function in Korea. The study was aimed to see the predictors of transient congenital hypothyroidism with long-term follow-up of more than 3 years of CH in a single tertiary center.<...

hrp0095rfc5.2 | Adrenals and HPA Axis | ESPE2022

Case Series: Anastrozole Monotherapy for Non-Classic Congenital Adrenal Hyperplasia

Sandy Liu , Malavika Suresh , Mutaz Jaber , Kyriakie Sarafoglou

Background: Non-classic congenital adrenal hyperplasia (NC-CAH) is caused by pathogenic variants of the CYP21A2 gene, and in most cases is not associated with cortisol deficiency as is the classic (severe) form. The majority of children with NC-CAH are asymptomatic and do not require cortisol replacement therapy with hydrocortisone unless they develop symptoms of hyperandrogenemia such as early pubarche, growth acceleration, advanced bone age, and ultimately s...