hrp0084p1-22 | Bone | ESPE2015

Evaluation of Bone Mineral Density and Microarchitectural Parameters by DXA and HR-PQCT in 36 X-linked Hypophosphatemic Rickets Patients from a Single-Centre Study

Neto Guido de Paula Colares , Pereira Rosa Maria Rodrigues , Alvarenga Jackeline Couto , Takayama Liliam , Funari Mariana Ferreira de Assis , Martin Regina Matsunaga

Background: Previous studies evaluating bone quality and microarchitecture in X-linked hypophosphatemic rickets (XLH) have produced conflicting data.Objective and hypotheses: To evaluate the bone mineral density (BMD) and microarchitecture in 36 XLH patients (13 children and 23 adults) with confirmed PHEX mutations compared to healthy controls.Method: The areal BMD (aBMD) at lumbar spine (L1-L4), femoral neck, total hip an...

hrp0095p2-103 | Fat, Metabolism and Obesity | ESPE2022

Reduction of The Nutritional Diagnosis of Eutrophy Among Brazilian Adolescents, Evaluation From 2010 to 2021

Machado Pinto Renata , Marinho de Jesus Luciana , Barreira Duarte de Sousa Mariana , Karoliny da Cunha Santos Viviane , Nascimento Fernandes Franco Nathália , Rodrigues Cardoso Jaína , Oliveira Alves Bruna

Introduction: Identifying the nutritional diagnosis of adolescents is crucial for developing public health strategies that promote the adequate development of this population.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2021.Methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The preval...

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...

hrp0084p3-1108 | Pituitary | ESPE2015

Causes and Consequences of Thickened Pituitary Stalk Found by MRI in Children and Adolescents with Central Diabetes Insipidus

Martinez-Villanueva Julian , Corredor-Andres Beatriz , Munoz-Calvo Maria Teresa , Lopez-Pino Miguel Angel , Lagana Claudio , Campdera Mariana , Pozo-Roman Jesus , Argente Jesus

Background: Magnetic resonance imaging (MRI) of the hypothalamic-pituitary area is extremely useful in the investigation of patients with central diabetes insipidus (CDI) due to infiltrative processes.Objective: We aimed to associate pituitary stalk thickness with the etiology of CDI and hormone deficiencies.Method: A retrospective single-center study of 15 patients (four boys and 11 girls) with CDI was performed and clinical-epide...

hrp0082lbp-d3-1009 | (1) | ESPE2014

Family Studies of CYP21A2 Gene Identify Different Haplotypes for Nonclassical 21-Hydroxylase Deficiency in Brazilian Population

de Paula Michelatto Debora , Grimaldi Larissa Magalhaes , Alpiste Marcel Costa , Baptista Maria Tereza Matias , Guerra-Junior Gil , Valente de Lemos-Marini Sofia Helena , Palandi de Mello Maricilda

Background: Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of cases are caused by a deficiency of the 21-hydroxylase enzyme. Its deficiency leads to androgen excess, consequently, to virilization and rapid somatic growth with accelerated skeletal maturation. Mutations in CYP21A2 are responsible for different forms of 21-hydroxylase defi...

hrp0094p2-329 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Cornelia de Lange syndrome: a case report

KARROU Marouan , Derbel Salma , Assarrar Imane , Messaoudi Najoua , Benouda Siham , Rouf Siham , Latrech Hanane ,

Introduction: CORNELIA DE LANGE Syndrome (CdLS) is a rare syndrome, first described in 1933 by the Dutch pediatrician CORNELIA DE LANGE. This syndrome represents a multi-systemic disorder with physical, cognitive and behavioral characteristics. It is evident in the typical or classical form (craniofacial appearance, short stature and limbs deformities). However, not all individuals with CdLS present with the classic phenotype, as the clinical presentation can ...

hrp0095p2-263 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Complete Androgen Insensitivity Syndrome: a case report

Soto-Maior Costa Maria , Galhardo Júlia , Anselmo Marisol , Alves Fátima , Kay Teresa , Lopes Lurdes

Background: Loss-of-function mutations of the androgen receptor (AR) gene result in androgen insensitivity syndrome (AIS) in 46,XY individuals, causing a disorder of sex development. AIS has a clinical continuum according to the resistance severity, being classified into three main categories: complete (CAIS), partial (PAIS), and mild (MAIS). The authors present a female phenotype patient with CAIS.Case Report: An otherw...

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...