Acromegaly is characterised by hypersecretion of growth hormone and presents diagnostic and therapeutic challenges that require consensus and guidelines for effective management. The Pituitary Study Group of the Portuguese Society of Endocrinology, Diabetes and Metabolism used a modified Delphi methodology to develop consensus recommendations for the diagnosis and management of acromegaly. A multidisciplinary p...
Study question: What is the contribution of genetic defects in Portuguese patients with congenital hypogonadotropic hypogonadism (CHH)? Summary answer: Approximately one-third of patients with CHH were found to have a genetic cause for their disorder, with causal pathogenic and likely pathogenic germline variants distributed among 10 different genes; cases of oligogenic inheritance were also included. What is k...
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Introduction: The ideal management of subclinical hypothyroidism, particularly the mild form, remains unclear. Our objectives were to describe the clinical management of subclinical hypothyroidism in children and adolescents and the natural course of the disease with conservative management. Material and Methods: We retrospectively analyzed clinical records of patients, under the age of 18 years, referred to ou...
Introduction: We aim to define the iron deficiency prevalence and eventual differences between obese patients with and without metabolic syndrome.Material and Methods: Analysis of patients evaluated at multidisciplinary consultation of obesity in our institution between 2013 and 2015 (n = 260). Iron deficiency: ferritin levels < 15 ng/mL. Exclusion criteria: prior bariatric surgery; lack of ferritin or hemog...
A síndrome de interrupção da haste hipofi sária é uma patologia congénita rara que causa hipogenesia da hipófi se anterior e agenesia ou ectopia da hipófi se posterior. O diagnóstico habitualmente é tardio, quando surgem alterações antropométricas ou diminuição da velocidade de crescimento. Os autores apresentam o caso clínico de um adolescente enviado à consulta de endocrinologia pediátrica aos 13 anos de idad...
Cowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves' disease (GD). At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On ...
Introdução: O hipopituitarismo é caracterizado por insuficiência da secreção hormonal hipófisária. A clínica é variável e depende da etiologia, evolução temporal e hormonas envolvidas. Caso: Criança do sexo masculino com 2 anos, trazida à urgência por alteração súbita da consciência. No período neonatal apresentou quadro de hipoglicemia, trombocitopenia, icterícia e sépsis sem agente identificado. Objetivou-se ...
Introdução: O hipopituitarismo é caracterizado por insuficiência da secreção hormonal hipófisária. A clínica é variável e depende da etiologia, evolução temporal e hormonas envolvi- das. Caso: Criança do sexo masculino com 2 anos, trazida à urgência por alteração súbita da consciência. No período neonatal apresentou quadro de hipoglicemia, trombocitopenia, icterícia e sépsis sem agente identificado. Objetivou-s...