hrp0084p2-509 | Pituitary | ESPE2015

Survival, Hypothalamic Obesity, and Neuropsychological/Psychosocial Status after Childhood-Onset Craniopharyngioma: Newly Reported Long-Term Outcomes

Sterkenburg Anthe S , Hoffmann Anika , Gebhardt Ursel , Warmuth-Metz Monika , Daubenbuchel Anna M M , Muller Hermann L

Background: Quality of life and long-term prognosis are frequently, often severely impaired in craniopharyngioma (CP) patients.Objective and hypotheses: Knowledge of risk factors for long-term outcome is important for optimisation of treatment.Method: Overall survival (OS) and progression-free survival (PFS), BMI, neuropsychological status (EORTCQLQ-C30, MFI-20), and psychosocial status were analysed in 261 patients with childhood-...

hrp0084p2-514 | Pituitary | ESPE2015

Hydrocephalus and Hypothalamic Involvement in Paediatric Patients with Craniopharyngioma or Cysts of Rathke’s Pouch: Impact on Long-term Prognosis

Daubenbuchel Anna M M , Hoffmann Anika , Gebhardt Ursel , Warmuth-Metz Monika , Sterkenburg Anthe S , Muller Hermann L

Background: Paediatric patients with sellar masses such as craniopharyngioma (CP) or cyst of Rathke’s pouch (CRP) frequently suffer disease- and treatment-related sequelae.Objective and hypotheses: We analysed the impact and prognostic relevance of initial hydrocephalus (HY) and hypothalamic involvement (HI) on long-term survival and functional capacity (FC) in children with CP or CRP.Method: Using retrospective analysis of pa...

hrp0084p3-773 | Diabetes | ESPE2015

Mauriac Syndrome, a Rare Complication of Type 1 Diabetes Mellitus

Rivero-Martin Maria Jose , Perez-Segura M Pilar , Alcazar-Villar Maria Jose , Montes-Bentura David , Milian M Eugenia Oros

Background: Mauriac syndrome (MS) classically involves hepatomegaly (hepatic glycogenosis), growth impairment and cushingoid features in a patient with poorly controlled type 1 diabetes mellitus (T1DM). The typical age of presentation is adolescence. With the advent of improved insulin regimens, MS has seen less frequently. However, new cases appear each year in medical literature.Clinical case: We report the case of a 9 years and 9 months of age male, w...

hrp0094p2-317 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Noonan syndrome patients with short stature at a single pediatric endocrinology centre

Deyanova Y. , Iotova V. , Tsochev K. , Stoyanova M. , Stoicheva R. , Mladenov V. , Bazdarska Y. , Galcheva S. , Zenker M. ,

Introduction: Noonan syndrome (NS) is caused by mutations in RAS/MAPK signaling pathway genes. About 70% of the NS patients have short stature, and human recombinant growth hormone (rhGH) is an established yet not fully standardized treatment.Objective: To assess the first 2 years rhGH treatment effectiveness in NS patients at a single centre.Materials and methods: A total of 20 (16 male) NS patien...

hrp0084lbp-1268 | Late Breaking Posters | ESPE2015

Genetic Causes of Disproportional Short Stature Identified by Whole Exome Sequencing

Funari Mariana F A , Vasques Gabriela A , Lerario Antonio M , Freire Bruna L , Nishi Mirian Y , Franca Monica M , Shinjo Sueli M O , Marie Suely K N , Arnhold Ivo J P , Jorge Alexander A L

Background: Disproportional short stature (DSS) is the most frequent clinical presentation of skeletal dysplasias, which are a heterogeneous group of more than 450 disorders of bone. Skeletal survey is important to establish the diagnosis and to guide the genetic test, but has several limitations, especially in mild and atypical cases.Objective and hypotheses: To identify the genetic aetiology of DSS by exome sequencing.Method: Who...

hrp0097p1-415 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

EuRR-Bone: Collecting Condition-Specific Outcomes on Fibrous Dysplasia/ McCune-Albright Syndrome

Luisa Priego Zurita Ana , O Bulaicon Oana , Arrieta Nerea , Bryce Jillian , Caballero Campos Magdalena , Chapurlat Roland , Doxiadis Gaby , Kassim Javaid M , Ovejero Crespo Diana , M de Rooij Tess , Seefried Lothar , Tessaris Daniele , Faisal Ahmed S , M Appelman-Dijkstra Natasha

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) were created in collaboration with the European Reference Network on Rare Bone Conditions (ERN-BOND). EuRR-Bone collects data using 2 platforms: e-REC, a tool that captures the occurrence of bone and mineral conditions, and the Core Registry which collects a set of Core Data Elements as well as longitudinal patient and clinician reported outcomes in condition specific module...

hrp0095p1-401 | Adrenals and HPA Axis | ESPE2022

Increased Basal Levels of 17-Hydroxyprogesterone In The Covid ERA: Must We Change The Cut-Off Point To Request Acth Test?

Laura Bertholt Zuber M. , Alonso Rubio Pablo , Palenzuela Revuelta Inmaculada , Pozas Mariscal Sara , Lavín Gómez Bernardo , Teresa Garcia Unzueta M.

Background: 17-hydroxyprogesterone (17-OHP) basal levels greater than 2ng/ml has been related to the need to request an ACTH test to dismiss non-classic congenital adrenal hyperplasia. We have seen an increase in baseline levels in 2021 compared to 2020.Objectives: To determine how many of the tests that were requested due to a high basal 17-OHP value, were positive. Assess the need to modify the cut-off points to reques...

hrp0092p3-303 | Late Breaking Abstracts | ESPE2019

Hirsutism in Children: Pitfalls and Diagnostic Challenges

Bizerea-Moga Teofana Otilia , Tămăşanu Raluca Corina , Maria Velcelean Alexandra , Brad Giorgiana Flavia , Mărginean Otilia

Introduction: Hirsutism is a condition defined as excessive male-pattern hair growth in females most commonly caused by hyperandrogenism. Polycystic ovary syndrome (PCOS), non-classic adrenal hyperplasia (NCAH) due to 21-hydroxylase deficiency and androgen-secreting tumors represent causes of androgen excess. Common features such as hirsutism, polycystic ovaries, oligomenorrhea or amenorrhea, and insulin resistance make it hard to distinguish between the first...

hrp0089rfc6.3 | Fat, Metabolism and Obesity | ESPE2018

Effect of the Melanocortin-4 Receptor Agonist, Setmelanotide, on Obesity and Hyperphagia in Individuals Affected by Bardet-Biedl Syndrome

Haws Robert M , Fletty Kristina L , McIntee Thomas J , Green Clayton , Pomeroy Jeremy , Hylan Michelle , Folster Cathy , Davis Elisabeth K , Brady Sheila M , Fiedorek Fred T , Yanovski Jack A

Background: Bardet-Biedl syndrome (BBS) causes early-onset extreme obesity and hyperphagia that is hypothesized to arise from leptin receptor dysfunction. Setmelanotide, a melanocortin-4 receptor (MC4R) peptide agonist, has been shown to induce weight loss in individuals affected by other rare genetic obesity disorders resulting from leptin-melanocortin pathway dysfunction upstream of MC4R.Objective: Report preliminary data on body weight, hunger scores,...