11 documents found, page 1 of 2

Psychometric properties of the hypoglycemia fear survey—Parents (HFS-P) in the ...

Background/Objectives: Hypoglycemia occurs when blood glucose levels drop significantly below the normal range leading to unpleasant symptoms and a greater risk of acute complications. Fear of hypoglycemia (FH) is a conditioned psychological response to hypoglycemia frequently experienced by people with type 1 diabetes (T1D) and their loved ones. The present study aimed to examine the psychometric properties of...

Young-onset acromegaly and gigantism: Causes and clinical features of growth ho...

Depending on the age of onset, the excessive release of growth hormone (GH) − most commonly by a pituitary tumor − and subsequently of insulin-like growth factor 1 (IGF1) can cause acromegaly and gigantism. The purpose of this study was to describe the clinical manifestations and main known causes of GH overproduction. GH-releasing hormone and IGF1 can result in a series of physical traits and comorbidities due...

Subclinical Hypothyroidism in Children: Approach Protocol Proposed by the Socie...

A Case Series Study on Growth Hormone Therapy in Children with Prader-Willi Syn...

Introduction: Prader-Willi syndrome is a multisystemic genetic disorder associated with shorter adult height. Nowadays, all paediatric Prader-Willi syndrome patients are considered for growth hormone treatment. We present the experience of this treatment at a Portuguese paediatric endocrinology unit and intend to emphasise the importance of creating a follow-up national network of these patients.Material and Me...

Hidden by the hair - a precocious puberty case report

McCune-Albright syndrome (MAS) is one of the conditions causing precocious gonadotropin-independent puberty. It is a rare disease, characterized by two of the three following features: precocious puberty, polyostotic fibrous dysplasia (PFD), and café au lait (CAL) skin spots. Herein is presented the case of a girl with pubarche, acne, and transient thelarche since the age of three and menarche since the age of ...

Hidden by the hair - a precocious puberty case report

McCune-Albright syndrome (MAS) is one of the conditions causing precocious gonadotropin-independent puberty. It is a rare disease, characterized by two of the three following features: precocious puberty, polyostotic fibrous dysplasia (PFD), and café au lait (CAL) skin spots. Herein is presented the case of a girl with pubarche, acne, and transient thelarche since the age of three and menarche since the age of ...

Congenital adrenal hyperplasia in paediatric age: molecular analysis of the CYP...

Introduction: Congenital adrenal hyperplasia(CAH) is due to 21-hidroxilase deficiency(21-OHD) in about 95% of the cases. 21-OH is encoded by CYP21A2 gene, and most frequent mutations occurring in CYP21A2 are due to gene conversions originated from its pseudogene(CYP21A1P). The clinical severity of CAH is associated with the impairment of 21-OH activity, which is directly related with the molecular defect. CAH i...

Espectro de alterações moleculares detetadas no gene CYP21A2 associadas a defic...

A maioria dos doentes com hiperplasia suprarrenal congénita (HSC) apresenta alterações moleculares no gene CYP21A2, o qual codifica a enzima 21-hidroxilase (21-OH). Os doentes com a forma clássica de deficiência em 21-OH (21-OHD) apresentam a síntese de cortisol diminuída no córtex adrenal e, os casos mais graves, também apresentam deficiência de aldosterona. As mulheres com 21-OHD grave apresentam excesso de a...

Avaliação da Sensibilidade à Hipoglicemia Numa População Pediátrica com Diabete...

Introdução: A diminuição da sensibilidade à hipoglicemia em doentes com diabetes mellitus tipo 1 compromete a identificação precoce e o tratamento atempado da hipoglicemia, levando ao aumento do risco de ocorrência de eventos graves. A sua prevalência é desconhecida em idade pediátrica. Avaliou-se o estado de sensibilidade à hipoglicemia num grupo de crianças e adolescentes com diabetes mellitus tipo 1 em segui...

Pneumonia a Mycoplasma Pneumoniae com Envolvimento Articular — Um Caso Clínico

Mycoplasma pneumoniae é agente frequente de pneumonia atípica na idade pediátrica, podendo manifestar-se igualmente por sintomatologia do aparelho respiratório superior ou ainda por envolvimento multissistémico (cutâneo, neurológico, articular, hematológico ou cardíaco). A propósito do caso de uma criança do sexo masculino, de 8 anos, com pneumonia e artralgias, faz-se uma revisão das formas de apresentação clí...