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...

hrp0097fc13.1 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Genetic evaluation in children with self-limited pubertal delay discloses new candidate genes

Rezende Raissa , Schafer Evan , Kaisinger Lena , He Wen , Andrade Nathalia , Dantas Naiara , Cellin Laurana , Quedas Elisangela , Perry John , Howard Sasha , Claudia Latronico Ana , Chan Yee-Ming , Jorge Alexander

Introduction: Age at pubertal onset is a markedly inherited trait. The most common cause of pubertal delay, self-limited pubertal delay, is defined by the absence of secondary sexual characteristics after 13 years in girls and 14 years in boys, with progression before age 18. This study aimed to detect novel candidate genes for self-limited pubertal delay.Methods: Eighty-one patients with confirmed self-limited delayed p...

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...

hrp0098p1-61 | Growth and Syndromes 1 | ESPE2024

Comparison of the diagnostic yield of whole exome sequencing (WES) and targeted panel sequencing for children with idiopathic short stature (ISS)

Cellin Laurana , Andrade Nathalia , Malaquias Alexsandra , Rezende Raissa , Atique Patricia , Luz Camila , Vasques Gabriela , Souza Vinicius , Quedas Elisangela , Antonini Sonir , Collet-Solberg Paulo , Scalco Renata , Longui Carlos , Jorge Alexander

Introduction: Growth disorders are often caused by monogenic conditions, and genetic investigation should be guided by clinical findings. However, in children with ISS, the absence of specific clinical features prevents the candidate gene approach. ACMG practice guideline (2021) recommends that children with ISS could be evaluated using targeted panel sequencing or WES. In commercial laboratories, WES is often performed and the genetic evaluation is offered as...

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...

hrp0097p2-78 | 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...