hrp0084p2-255 | Diabetes | ESPE2015

Significant Impact of Nocturnal Melatonin Secretion on Obesity-Related Metabolic Disorders in Children and Adolescents

Overberg Johanna , Kuhnen Peter , Ernert Andrea , Krude Heiko , Wiegand Susanna

Background: In addition to its function in circadian rhythm Melatonin plays an important role in energy metabolism and body weight regulation. In animals pinealectomy induces insulin resistance and administration of melatonin to diabetes prone rats ameliorates their glucose metabolism. Furthermore loss-of-function mutations of the melatonin receptor gene are associated with insulin resistance and DM II in humans.Objective and hypotheses: So far the effec...

hrp0097p1-575 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Gender-Dysphoric Austrian Youth Seeking Gender Affirming Hormonal Therapy: Baseline Somatic and Psychosocial Health, Gender Affirming Treatment Trajectories and Fertility Preservation Rates

Steininger Johanna , Knaus Sarah , Kaufmann Ulrike , Riedl Stefan

Objectives: The aim of this study is to describe the clinical characteristics of Austrian children and adolescents with gender dysphoria seeking gender affirming medical care, as well as their treatment trajectories.Methods:In this retrospective study at a large university hospital, a chart review of all patients presenting with gender dysphoria at the pediatric outpatient clinic for differences in sex development betwee...

hrp0089lb-p9 | Late Breaking P1 | ESPE2018

Two Siblings with Autosomal Recessive Syndromic Hypopituitarism Caused By Mutations in TBC1D32

Hietamaki Johanna , Iivonen Anna-Pauliina , Kansakoski Johanna , Miettinen Paivi J. , Liu Xiaonan , Vaaralahti Kirsi , Hero Matti , Varjosalo Markku , Raivio Taneli

Patients who suffer from congenital hypopituitarism display a wide spectrum of phenotypes including pituitary hormone deficiencies and, in some cases, additional extrapituitary manifestations depending on the causative gene. A group of genes underlying hypopituitarism has been identified, yet several of them remain unknown. Here, we identified compound heterozygous variants in the TBC1D32 gene, c.1165_1166dupGT, p.(Gln390Phefs*32) and c.2151delA, p.(Lys717Asnfs*29) in...

hrp0086p1-p335 | Gonads & DSD P1 | ESPE2016

Complete Androgen Insensitivity Syndrome Caused by a Deep Intronic Pseudoexon-Activating Mutation in the Androgen Receptor Gene

Kansakoski Johanna , Jaaskelainen Jarmo , Jaaskelainen Tiina , Tommiska Johanna , Saarinen Lilli , Lehtonen Rainer , Hautaniemi Sampsa , Frilander Mikko J. , Palvimo Jorma J. , Toppari Jorma , Raivio Taneli

Background: Androgen insensitivity syndrome (AIS), ranging from complete (CAIS) to partial (PAIS) and to mild (MAIS) forms of androgen resistance, is caused by mutations in the X-linked AR gene that encodes the androgen receptor. Some cases, however, remain without a molecular genetic diagnosis that would confirm the diagnosis especially in cases that have phenotypic similarities with other 46,XY disorders of sex development.Objective and hypoth...

hrp0095rfc2.1 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Muscle function in XLH - Two year prospective observation of paediatric patients before and after treatment initiation with burosumab

Rehberg Mirko , Heistermann Johanna , Neuburg Lisa , Schönau Eckhard , Hoyer-Kuhn Heike-Katharina , Semler Oliver

X-linked hypophosphatemia (XLH, MIM 307800) is a rare hereditary disorder of bone metabolism characterized by growth impairment, leading to bone deformities and short stature and beside others to muscle function deficits. XLH is caused by defect of endopeptidase PHEX leading to high levels of FGF-23 and thereby renal phosphate wasting. While conventional treatment includes substitution of phosphate and 1-25 OH-Vitamin D, now a treatment with a FGF-23 antibody (burosumab) is av...

hrp0092t18 | Top 20 Poster | ESPE2019

Early Treatment with Intravenous Bisphosphonates Prevents Severe Postnatal Bone Loss in Children with Osteogenesis Imperfecta

Rehberg Mirko , Heistermann Johanna , Schönau Eckhard , Semler Jörg , Hoyer-Kuhn Heike

Objective: Osteogenesis imperfecta is an inherited disorder characterised by bone fragility. Antiresorptive treatment with bisphosphonates is a well-established first line medical treatment in OI types III/IV. Nevertheless, there is no consensus on treatment modalities, like which bisphosphonate to use in which dose and when to initiate treatment. The objective of this work was to evaluate the therapeutic effect of a one-year treatment period with bisphosphona...

hrp0092p1-395 | Pituitary, Neuroendocrinology and Puberty (2) | ESPE2019

Presentation and Diagnosis of Childhood Onset Combined Pituitary Hormone Deficiency: A Single Center Experience from Over 30 Years.

Hietamäki Johanna , Miettinen Päivi J. , Hero Matti , Tarkkanen Annika , Raivio Taneli

Background: We describe the incidence, etiologies and clinical features of combined pituitary hormone deficiency (CPHD) in pediatric patients from a single tertiary center.Methods: The cohort comprised of patients with CPHD, treated in the Helsinki University Hospital between 1985 and 2018. They were identified through an ICD-9/ICD-10 code search, and the clinical data were recorded from the patient charts.<p class="...

hrp0089p1-p010 | Adrenals and HPA Axis P1 | ESPE2018

The Circadian Rhythm of Cortisol Binding Globulin has Little Impact on Cortisol Exposure after Hydrocortisone Dosing

Melin Johanna , Hartung Niklas , Parra-Guillen Zinnia , Whitaker Martin , Ross Richard , Kloft Charlotte

Background: Optimisation of hydrocortisone replacement therapy remains challenging due to complex pharmacokinetics as circulating cortisol is protein bound mainly to corticosteroid-binding globulin (CBG) that has a circadian rhythm.Objective: A detailed analysis of the CBG circadian rhythm and its impact on cortisol exposure during hydrocortisone replacement therapy.Methods: CBG was measured over 24 h in 14 healthy...

hrp0086p1-p375 | Gonads &amp; DSD P1 | ESPE2016

Can we Standardize Sex Assignment in 45,X/46,XY Mixed Gonadal Dysgenesis?

Colindres Johanna Viau , Eugster Erica , Smith O'Brian , Gunn Sheila , Mendiratta Meenal , Karaviti Lefkothea

Background: Patients with 45,X/46,XY mixed gonadal dysgenesis (MGD) have variable phenotypes leading to both male and female sex assignments. A multidisciplinary team should guide the process of sex assignment, however a standardized approach may provide objective guidance for the team as well as a tool for settings without such resources. One of the most important considerations for sex assignment is the hormonal production, which often determines the degree of virilization. ...

hrp0082p1-d2-121 | Fat Metabolism &amp; Obesity (1) | ESPE2014

Sex-, Age- and Height-Specific Reference Curves for the 6-min Walk Test in Healthy Children and Adolescents

Saraff Vrinda , Schneider Johanna , Colleselli Valeria , Ruepp Monika , Neururer Sabrina , Rauchenzauner Markus , Geiger Ralf , Hogler Wolfgang

Background: The 6-min walk test (6MWT) is a simple, accurate and safe method to measure functional exercise capacity. The 6MWT is increasingly used in children to predict morbidity and mortality from cardiopulmonary disease, to assess functional capacity and measure disease progression in chronic childhood conditions such as muscular dystrophy.Objective and hypotheses: To provide smooth reference curves for the 6-min walk distance (6MWD) in healthy child...