hrp0098p2-54 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

The clinical burden and healthcare resource utilization among children and adolescents with osteogenesis imperfecta: an observational study using Optum’s de-identified Clinformatics® Data Mart Database

Abraham Pranav , Miles Gandarvaka , Petruski-Ivleva Natalia , Hawaldar Kalyani , I. Berger Kenneth

Objectives: Osteogenesis imperfecta (OI) is a skeletal dysplasia affecting 1–2 individuals per 20,000 live births, but the burden of disease in children and adolescents remains unclear. We assessed the clinical and healthcare resource utilization (HCRU) burden of OI in US clinical practice.Methods: This retrospective cohort study included children and adolescents (aged ≤19 years) with OI (≥1 inpatient claim, ...

hrp0086p2-p291 | Diabetes P2 | ESPE2016

The Story of a de novo Heterozygous HNF1A Mutation

Ponmani Caroline , Banerjee Kausik

Background: MODY is characterised by an early onset of diabetes and a positive family history of diabetes with an autosomal dominant mode of inheritance. We report a 15 year girl with a HNF1A mutation who presented with MODY without a positive family history.Objective and hypotheses: HNF1A-MODY is often misdiagnosed as type 1 or type 2 diabetes. Genetic confirmation of MODY in insulin-treated patients helps in making changes in the treatment modality as ...

hrp0095p1-538 | Multisystem Endocrine Disorders | ESPE2022

Capillary Hyperglycemia in Infants - A manifestation of endocrinological urgency, or not.

de Assis Galan Camila , Isabel Scheidt Maria , Cristina Pedroso de Paula Leila , Vanessa de Lima Silva Elis , Simão Medeiros Leonardo , de Oliveira Poswar Fabiano

Capillary hyperglycemia in critically ill infants is a situation with numerous interfering factors, from acute illnesses to concomitant use of medications and may or may not be a manifestation of endocrinological urgency. Clinical case: Female patient, 2 months old, with failure to thrive, hepatomegaly without cholestasis, polyuria and compensated metabolic acidosis. On admission, capillary blood glucose levels above 200 mg/dL were measured even without concomitant use of cort...

hrp0084p3-899 | Fat | ESPE2015

The Influence of Physical Activity and Physical Fitness in the Metabolic Profile and Microcirculation of Eutrophic, Overweight and Obese Children 5–12 Years of Age

da Penha Jociene Terra , Gazolla Fernanda Mussi , Carvalho Cecilia Noronha de Miranda , Madeira Isabel Rey , Rodrigues Jr Flavio , Machado Elisabeth de Amorim , Sicuro Fernando Lencastre , Farinatti Paulo de Tarso Veras , Collett-Solberg Paulo Ferrez

Background: Obesity is a worldwide epidemic affecting adults and children. Social changes throughout history have contributed to modifications in nutrition and physical activity levels. These changes in lifestyle affected health, increasing the number of metabolic and cardiovascular diseases. Obese children already have a low grade systemic inflammation as well as markers of increased cardiovascular risk. The endothelial function is an important and early marker of atheroscler...

hrp0082p1-d2-148 | Growth (1) | ESPE2014

Beneficial Effects of Long-term GH Treatment on Adaptive Functioning in Infants With Prader–willi Syndrome

Lo Sin , Festen Dederieke , van Wijngaarden Roderick Tummers-de Lind , Collin Philippe , Hokken-Koelega Anita

Background: Knowledge about the effect of GH treatment on adaptive functioning in children with Prader–Willi syndrome (PWS) is limited.Objective and hypotheses: The aim of this study was to investigate the effect of GH treatment on adaptive functioning in children with PWS.Method: Vineland Adaptive Behavior Scale (VABS) was assessed at start, at the end of the RCT, and after 7 years of GH treatment. In the RCT, 75 children (42...

hrp0092p3-323 | Late Breaking Abstracts | ESPE2019

De Novo PPM1D Mutation in a Patient with Growth Hormone Deficiency: A Case Report

Yuan Yuan , Shufang Liu

Growth hormone deficiency (GHD) is a relatively rare cause for short stature resulting from insufficient secretion of growth hormone (GH). With complicated etiology, GHD can coexist in numerous syndromes or disorders such as Turner Syndrome. So, it is necessary to take genetic analysis to patients with GHD especially those perform various phenotypes. A 9.5 years old boy complained of short stature was diagnosed with GHD by height velocity (HV) <5 cm/year, delayed bone age ...

hrp0082p1-d2-213 | Reproduction (1) | ESPE2014

The Association of Moebius Syndrome and Kallman Syndrome is Due to a Specific Mutation of TUBB3

Amouyal Melanie , Bouvagnet Patrice , Rochette Galliane , de Roux Nicolas

Background: Between the 6000 monogenic disorders, only few are due to a single mutation. Recently, a specific mutation has been described in TUBB3, encoding tubulin beta 3, in the association of Moebius syndrome (MS) and Kallmann syndrome (KS). MS is a congenital paralysis of eye and face’s muscles and can be caused by mutations of TUBB3. KS combines hypogonadotropic hypogonadism and anosmia.Objective and hypotheses: The combination of these two syn...

hrp0094p2-36 | Adrenals and HPA Axis | ESPE2021

Challenging in diagnosis and treatment of Cushing Disease in a 12 years old boy

Gjikopulli Agim , Kollcaku Laurant ,

Background: Cushing’s disease (CD) is caused by an ACTH-secreting pituitary corticotroph adenoma and it is the commonest cause of Cushing’s syndrome (CS) in pediatric age. CD is very rare disease almost in pediatric age and the most of pediatric endocrinologists have limited experience in the diagnosis and treatment of children with CD. Microadenomas are the most of ACTH-secreting pituitary tumors in the pediatric age and the majority of these fails ...

hrp0095p2-13 | Adrenals and HPA Axis | ESPE2022

Failure to Thrive as A Manifestation of Neonatal Cushing.

Isabel Scheidt Maria , de Assis Galan Camila , Cristina Pedroso de Paula Leila , da Costa Rodrigues Ticiana , Antonio Czepielewski Mauro , Guaragna Filho Guilherme

Failure to thrive is a term used to describe inadequate growth or the inability to maintain growth, which usually occurs in early childhood. Case report: female patient, 7 months old, referred to the pediatric clinic of Hospital de Clínicas de Porto Alegre due to a possible syndromic condition. He had no diagnosed comorbidity to date and was using only prophylactic ferrous sulfate and vitamin D. No family history of similar illness. Physical examination showed hypertric...

hrp0097p2-77 | Adrenals and HPA Axis | ESPE2023

Massive adrenocortical carcinoma with right atrium invasion in a two-year old girl with li fraumeni syndrome – possibility of succesful ressection after neoadjuvant chemotherapy

Reis Krämmer Bárbara , Faviero de Vasconcellos Natália , da Costa Rodrigues Ticiana , Antônio Czepielewski Mauro , Guaragna Filho Guilherme , Cristina Pedroso de Paula Leila

Background: In Brazil, specially in the south, there is a high prevalence of p53 mutations – 1:300 compared to 1:5000-1:20000 incidence worldwide. (1) As a consequence, adrenocortical carcinoma as a cause of virilization in children is much more common in our practice.Clinical Case: M.P.O., a 32-month-old girl, was referred to our institution - Hospital de Clínicas de Porto Alegre - in May 2022 due to progre...