CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene …

A Friães, AT Rêgo, JM Aragüés, LF Moura… - Molecular genetics and …, 2006 - Elsevier
More than 90% of congenital adrenal hyperplasia (CAH) cases are caused by 21-
hydroxylase deficiency. In this study, the CYP21 gene was genotyped in 56 Portuguese …

The spectrum of pediatric adrenal insufficiency: insights from 34 years of experience

M Ventura, J Serra-Caetano, R Cardoso… - Journal of Pediatric …, 2019 - degruyter.com
Background Adrenal insufficiency (AI) is a life-threatening disease characterized by deficient
production of glucocorticoids and/or mineralocorticoids. It is caused by primary or …

[HTML][HTML] Maturity-Onset Diabetes of the Young (MODY) in Portugal: Novel GCK, HNFA1 and HNFA4 Mutations

MI Alvelos, CI Gonçalves, E Coutinho… - Journal of clinical …, 2020 - mdpi.com
Maturity-onset diabetes of the young (MODY) is a frequently misdiagnosed type of diabetes,
which is characterized by early onset, autosomal dominant inheritance, and absence of …

[HTML][HTML] Effect of ultra-rapid insulin aspart on glycemic control in children with type 1 diabetes: the experience of a Portuguese tertiary centre

C Costa, MI Linhares, F Bastos, R Cardoso… - Diabetology …, 2022 - Springer
Background Postprandial hyperglycemia is one of the biggest challenges in children with
type 1 diabetes (T1D). Ultra-fast-acting aspartic insulin (faster aspart) has a quicker onset of …

CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype–Phenotype Correlation from a Portuguese Pediatric Cohort

R Santos-Silva, R Cardoso, L Lopes… - Hormone Research in …, 2019 - karger.com
Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency
(21OHD) is an autosomal recessive disorder characterized by 3 overlapping phenotypes …

Clinical characteristics of polyglandular autoimmune syndromes in pediatric age: an observational study

B Bouça, A Nogueira, J Caetano, R Cardoso… - Journal of Pediatric …, 2022 - degruyter.com
Objectives Polyglandular autoimmune syndromes (PAS) are characterized by the
association of two or more autoimmune diseases (AID) and are classified into four types …

[PDF][PDF] Autoimmune Primary Adrenal Insufficiency in Children

NM Bala, RS Gonçalves, JS Caetano… - Journal of clinical …, 2022 - jag.journalagent.com
Objective: Primary adrenal insufficiency (PAI) is a rare condition in children, and is
potentially life-threatening. The most common cause is congenital adrenal hyperplasia, and …

Metabolic factors in obesity

N Brito, M Fonseca, I Dinis, A Mirante - Journal of Pediatric …, 2010 - degruyter.com
Obesity has a rising prevalence in children and adolescents, affecting 30% of the paediatric
population in Portugal. Leptin is an important hormone involved in the pathogenesis of …

Neonates born to mothers with Graves' Disease: 15 year experience of a Pediatric Endocrinology Department

IR Luz, JR Martins, M Jerónimo… - Acta Médica …, 2020 - actamedicaportuguesa.com
Introduction: Graves disease is characterized by the existence of autoantibodies directed to
the thyrotropin receptor, which can have a stimulatory/inhibitory action, in women with the …

Type 1 diabetes in children is not a predisposing factor for oral yeast colonization

AL Costa, BMA Silva, R Soares, D Mota… - Medical …, 2017 - academic.oup.com
Type 1 diabetes mellitus (T1D) is considered a risk factor associated with oral yeast
infections. The aim of this study was to evaluate the yeast oral carriage (in saliva and …