hrp0082p2-d2-468 | Growth (1) | ESPE2014

Successful GH Treatment for Severe Growth Failure in Paediatric Patients with Anorexia Nervosa

Fjellestad-Paulsen Anne , Bargiacchi Anne , Doyen Catherine , Raverdy Cecile , Carel Jean-Claude , Leheuzey Marie-France , Leger Juliane

Background: Anorexia nervosa (AN), a state of chronic nutritional deprivation prevalent in children and young adolescents, is associated with major changes to the hypothalamic–pituitary axis including the GH–IGF1 axis, thyroid function, hypercortisolemia, and hypogonadotropic–hypogonadism, with delayed puberty and a low growth velocity (GV) at a time critical for the pubertal growth spurt, potentially affecting adult height. The effects of supraphysiological hum...

hrp0092p1-179 | Diabetes and Insulin (1) | ESPE2019

Longitudinal Metabolic Control After Initiation of Insulin Pump in 5,040 Pediatric Type-1-Diabetes Subjects – Heterogeneous HbA1c Trajectories Over Three Years from the DPV Registry

Prinz Nicole , Schwandt Anke , Becker Marianne , Biester Torben , Hess Melanie , Holder Martin , Karges Beate , Näke Andrea , von Sengbusch Simone , Tauschmann Martin , Holl Reinhard W.

Objectives: Continuous subcutaneous insulin infusion (CSII) has been associated with lower HbA1c. To explore whether CSII initiation leads to HbA1c improvement in each individual with type-1 diabetes and to identify co-variates which might influence change in HbA1c.Methods: 5,040 pediatric type-1-diabetes subjects (δ20 y, 49% boys, median age at diabetes onset [Q1;Q3]: 5.9 [3.5;8.4] years) ...

hrp0086p2-p436 | Gonads & DSD P2 | ESPE2016

Mixed Gonadal Disgenesia: Patients of Instituto da Criança, HC-FMUSP

Ferreira Marianna , Pinheiro Claudia , Queiroz Edjane , Brigatti Nathalia , Ito Simone , Steinmetz Leandra , Cominato Louise , Setian Nuvarte , Dichtchekenian Vae , Filho Hamilton Menezes , Manna Thais Della , Damiani Durval

Background: Mixed gonadal dysgenesis (MGD) is a heterogeneous group of gonadal, chromosomal and phenotypic abnormalities. The diagnosis is based on the presence of testicular tissue and streak.Objective and hypotheses: Casuistics description of patients with MGD in our hospital.Method: A retrospective analysis of medical records.Results: We studied 15 patients. The age at first visit ranged from two weeks to ...

hrp0084p2-484 | Hypo | ESPE2015

Challenged Diagnosis on Hypoglycaemia: Hirata Disease X Factitious Hypoglycaemia

dos Santos Tiago Jeronimo , Passone Caroline , Ito Simone , Savoldelli Roberta , Kuperman Hilton , Filho Hamilton Cabral de Menezes , Steinmetz Leandra , Dichtchekenian Vae , Manna Thais Della , Damiani Durval

Introduction: The Insulin Autoimmune Syndrome (IAS or Hirata Disease) is rare among children. Non-ketotic hyperinsulinaemic hypoglycemia and the presence of insulin auto-antibody (IAA) are the conditions to diagnose the syndrome. The occurrence of hypoglycemia is due to the binding of the antibody to the insulin molecule at the immediate postprandial, followed by this binomial dissociation, which releases free insulin on serum and triggers symptomatic hypoglycaemia.<p clas...

hrp0084p2-251 | Diabetes | ESPE2015

Sick Day Rule: Survey of Parents of Children with Type 1 Diabetes (Experience and Knowledge)

Agwu Juliana Chizomam , Ng S May , Drew J , Edge J , Kershaw M , Wright N , Gardner C

Background: Inappropriate management of illness/stress, accidental or deliberate insulin omission are some of the causes of Diabetes ketoacidosis (DKA) in patients with established diabetes. During illness, patients with type 1 diabetes are advised to monitor for hyperglycaemia and ketosis, maintain fluid intake and if required, to administer supplemental insulin. Previous studies have confirmed that comprehensive diabetes self- management education (DSME) programs on manageme...

hrp0097p1-365 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Etiology, histology and long-term outcome of bilateral testicular regression: a large Belgian series

Tack Lloyd , Brachet Cécile , Beauloye Veronique , Heinrichs Claudine , Boros Emese , De Waele Kathleen , van der Straaten Saskia , Van Aken Sara , Craen Margarita , Lemay Annelies , Rochtus Anne , Casteels Kristina , Beckers Dominique , Mouraux Thierry , Logghe Karl , Van Loocke Marlies , Massa Guy , Van de Vijver Koen , Syryn Hannes , Van De Velde Julie , De Baere Elfride , Verdin Hannah , Cools Martine

Background: Long-term outcome studies on bilateral testicular regression (BTR) are currently lacking, hampering counseling of patients and parents. Although a vascular origin was initially reported, recent studies revealed a genetic origin in a subset of patients (i.e. DHX37 gene variants). How this relates to patient outcomes remains unclear.Methods: Thirty-five patients with BTR were recruited in eight Belgian centers ...

hrp0095p1-456 | Diabetes and Insulin | ESPE2022

Outmoded by Mody? A Case Report of HNF1A-Mody in Paediatric Stroke

Siese Thomas , Hickingbotham Hannah , Eggers Anne , Alins-Sahun Yolanda , Bowen Philippa , Hamilton-Shield Julian

Background: The association between HNF1A-MODY and vascular complications including stroke has previously been identified in adults but to date there have been no reported paediatric cases published.Description: We present the case of an Eritrean 13-year-old girl, who was admitted with an acute ischaemic stroke, on a background of Diabetes Mellitus (Presumed Type 1) diagnosed the previous year. Aside from being on multip...

hrp0095p1-544 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Long term effects of continuous subcutaneous infusion of recombinant LH and FSH during infancy on testicular function in congenital hypogonadotropic hypogonadism.

Sophie Lambert Anne , Avril Tristan , Teinturier Cecile , Rothenbuhler Anya , Linglart Agnes , Bouvattier Claire

Context: We previously observed that continuous subcutaneous infusion (CSI) of gonadotropins in infants with congenital hypogonadotropic hypogonadism (CHH) can mimic the hormonal pattern of minipuberty.Objective: Describe the peripubertal outcome in gonadotropins CSI treated patients.Patients: A retrospective study was realised in Bicetre Hospital between 2004 and 2022. Follow-up d...

hrp0089fc3.1 | Diabetes and Insulin 1 | ESPE2018

Neonatal Diabetes Owned to Potassium Channel Mutation: Response to Sulfonylureas According to the Genotype

Garcin Laure , Fauret Anne-Laure , Cave Helene , Polak Michel , Beltrand Jacques

Introduction / aim: Neonatal diabetes owned to potassium channel mutation can be successfully treated by sulfonylureas (SU). No study has reported SU efficiency according to the genotype.Method: Review of literature conducted in accordance with the control criteria of Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA). Search engine used: PubMed and the Cochrane Library database. Selection of clinical report, case reviews and met...

hrp0089fc8.1 | Sex differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2018

Estrogen Receptor 2 Variant as a Novel Cause for Dysgenetic Ovaries

Lang-Muritano Mariarosaria , Sproll Patrick , Wyss Sascha , Kolly Anne , Hurlimann Renate , Konrad Daniel , Biason-Lauber Anna

Background: Variants in the estrogen receptor α (ESR1) have previously been described in male and female patients presenting with estrogen resistance. Estrogen resistance is characterized by delayed bone-age, early-onset osteoporosis, delayed puberty and multicystic ovaries in women. So far, no clinical consequences of variants in the estrogen receptor β (ESR2) have been reported in 46,XX patients, although ESR2 variants have previously been implicated in 46,XY DSD p...