hrp0094p1-27 | Diabetes A | ESPE2021

The SARS-CoV-2 Pandemic Is Associated With Increased Severity Of Presentation Of Childhood Onset Type 1 Diabetes Mellitus: A Multicentre Study Of The First COVID-19 Wave

McGlacken-Byrne Sinead M , Drew Samantha EV , Turner Kelly , Peters Catherine , Amin Rakesh ,

Objective: Children are usually mildly affected by Severe Acute Respiratory Syndrome Coronavirus 2 infection (SARS-CoV-2, COVID-19). However, the pandemic has impacted negatively on children with non-COVID-19 diseases. We aimed to determine the impact of the COVID-19 pandemic on the presentation of newly diagnosed childhood-onset type 1 diabetes.Methods: This was a cross-sectional study conducted over a one-year period. ...

hrp0094p2-441 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Clinical case of premature ovarian failure in combination with blepharophimosis-ptosis-epicanthus inversus due to mutation in FOXL2 gene

Enikeeva Sofia , Kolodkina Anna , Tihonovich Julia

Clinical Case Description: Patient, 14 years 6 months old, complained of irregular menstrual cycle. On clinical examination, sexual development was Tanner 4, Me at 13 years old, the girl had 3 menses, with a last delay up to 8 months. Single terminal hairs along the white line of the abdomen, areola. The patient had epicanthus and narrowed eye slits of different sizes. She was operated on for congenital blepharophimosis in infancy. No one has similar problem...

hrp0094p2-363 | Pituitary, neuroendocrinology and puberty | ESPE2021

Pedigree analysis is essential for clarifying oligogenic transmission in a family with congenital hypogonadotropic hypogonadism (CHH)

Oberhauser Sarah , Papadakis G Georgios , Pitteloud Nelly , L’Allemand Dagmar ,

Background: Congenital hypogonadotropic hypogonadism (CHH) is a rare disease with a complex clinical picture and genetic background. In up to 50% genetic mutations are found. The goal is to be able to provide a comprehensive prognosis and genetic counseling for this family with CHH.Case presentation: At the age of 16 years a boy with familial constitutional delay (adrenarche only with 15 years, no growth spurt, bone age 14 years) present...

hrp0095p1-51 | Diabetes and Insulin | ESPE2022

Health-related quality of life and metabolic control in children and young patients with type 1 diabetes and in their parents before and after the COVID-19 lockdown.

Predieri Barbara , Bruzzi Patrizia , Candia Francesco , Caccamo Paola , Sandoni Marcello , Stefanelli Francesca , Pugliese Marisa , Lucaccioni Laura , F. Madeo Simona , Iughetti Lorenzo

Introduction: Italy was the first EU country to be affected by COVID-19 outbreak. The sudden change in everyday life was challenging for children and young people (CYP) who rely heavily on peer connections for emotional and social support. Concerns for consequences in CYP with type 1 diabetes (T1D) rose.Objectives: To compare the diabetes-specific health-related quality of life (D-HRQOL) of CYP with T1D and their parents...

hrp0095p1-59 | Diabetes and Insulin | ESPE2022

Type 1 diabetes glycated haemoglobin outcomes did not differ by insulin regimen in two large Cambodian tertiary hospitals

May Ng Sze , IV Malene , Yay Chantana , Chhun Khun Leang , Manet Ban , Martin Tyla , Lek Ngee

Introduction: Action 4 Diabetes (A4D) is a UK non-profit organisation which has been providing free insulin and self-monitoring blood glucose test kits for children and young people (CYP) with type 1 diabetes (T1D) in Cambodia’s 2 large tertiary hospitals-Kantha Bopha II Hospital based in Phnom Penh (KB2H) and Jayavarman VII Hospital based in Siem Reap (J7H), since July 2018 and January 2020, respectively.Objective:</strong...

hrp0095p1-239 | Diabetes and Insulin | ESPE2022

Why understanding hemoglobin glycated measurement can be important: Santa Juana hemoglobin variant and falsely elevated HbA1c

Lorand Juan , Boutsen Laure , Gueulette Emmanuelle , Maisin Diane , Closset Mélanie , Mouraux Thierry , Beckers Dominique

Diabetes mellitus is a chronic disease. The risk of microvascular complications is correlated with hemoglobin A1c (HbA1c) level [1] Educating the diabetic patient to keep an HbA1c below 7% reduce the risk of long-term complications. We report the case of a 15 years old teenager, with chronical headache, referred for diabetes mellitus with a fasting glycemia of 83 mg/dl (normal < 100) and an HbA1C of 8.3% using an Ion-exchange High Performance Liquid Chromatography (HPLC, Ad...

hrp0095p1-435 | Diabetes and Insulin | ESPE2022

Are we sure that the prevalence of SARS-CoV-2 infection is not underestimated? Usefulness of serological antibodies assays in children and adolescents with type 1 diabetes

Predieri Barbara , Bruzzi Patrizia , Meacci Marisa , Caccamo Paola , Di Caprio Antonella , Lucaccioni Laura , F. Madeo Simona , Trevisani Viola , Iughetti Lorenzo

Introduction: The true incidence of SARS-CoV-2 infection in children and young people (CYP) is unclear and data are influenced by testing strategies. CYP have so far accounted for 17.5-22% of diagnosed infections. In adults, diabetes was identified as risk factor for severe symptoms and hospitalization with the COVID-19. Eighteen months into the pandemic, studies in CYP with type 1 diabetes (T1D) reported only an increased prevalence of diabetic ketoacidosis (...

hrp0095p1-297 | GH and IGFs | ESPE2022

rhGH therapy in a patient with homozygous IGF1R mutation

Elisa Amodeo Maria , Deodati Annalisa , Mirra Giulia , Tattesi Giulia , Cianfarani Stefano

Background: IGFR1 gene plays a crucial role in growth and glucose metabolism. IGF1R mutations account for approximately 10% of children born SGA with no catch-up growth. rhGH therapy has been reported moderately effective in stimulating growth of children with heterozygous IGF1R mutation. To date, no data are available about the efficacy of rhGH in patients with homozygous mutations.Case report: We describe a 4 years-old...

hrp0095p1-178 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Human chorionic gonadotropin (hCG)–secreting hepatoblastoma in an male infant with peripheral precocious puberty and 11-year follow-up

MA Hua-mei , LI Yan-hong , Chen Qiu-li , DU Min-lian

Background: Hepatoblastoma is the most common malignant pediatric hepatic tumor virtually confined to infants and young children. Accompanied by raised levels of alpha fetoprotein (AFP),rarely, the beta human chorionic gonadotropin (β hCG) levels may also be elevated, which can cause male peripheral precocious puberty (PPP).Objective: To report a case of HB presented with PPP with elevated serum AFP, β h...

hrp0095p2-51 | Diabetes and Insulin | ESPE2022

Effect of combined hormonal contraceptives use in telomere length and metabolic profile in young women with T1D

Giraudo Franco , Lardone Cecilia , Castro Andrea , López Patricia , Iñiguez Germán , Merino Paulina , Salinas Abril , Cassorla Fernando , Codner Ethel

Introduction: The metabolic effects of oral hormonal contraception (OC) on telomere length (RTL) in young women with T1D are unknown.Objective: To determine the effect of using an OC on glycemic control, inflammatory profile, and RTL in young women with T1D and healthy women without diabetes (C).Methodology: T1D (n:20, age: 20.6 &pm; 3.3 years) and C (n:22, age 20.2 &pm; 3 years) u...