Objective: Idiopathic central precocious puberty (iCPP) is common in paediatric endocrinology. Gonadotropin-releasing hormone agonists (GnRHa) are safe, but the effect on final height and the ideal timing for treatment remains controversial. This study aims to assess the effectiveness of GnRHa on growth outcomes in girls with iCPP treated before and after the age of 8 years old. Design and patients: This retros...
Introduction: There are several concerns associated with gonadotropin-releasing hormone agonist (GnRHa) treatment for central precocious puberty (CPP), such as obesity and changes in body mass index (BMI). We aimed to investigate whether any anthropometric differences exist and if they persist over time. Methods: We conducted an observational study of Portuguese children (both sexes) diagnosed with CPP between ...
Single-pixel imaging is an imaging technique that has recently attracted a lot of attention from several areas. This paper presents a study on the influence of the Hadamard basis ordering on the image reconstruction quality, using simulation and experimental methods. During this work, five different orderings, Natural, Walsh, Cake-cutting, High Frequency and Random orders, along with two different reconstructio...
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...
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...
Em crianças e adolescentes com síndrome de trissomia 21 observa-se uma prevalência aumentada de alterações da função tiroideia. A mais frequentemente encontrada é o hipotiroidismo subclínico, seguida do hipotiroidismo clínico e, mais raramente, doença de Graves. O diagnóstico de hipotiroidismo é, por vezes, tardio pois os sintomas são confundidos com as manifestações características da trissomia 21, sendo porta...
Turner syndrome is one of the most frequent chromosome disorders in clinical practice. It is characterized by a multisystemic involvement, responsible for a high morbidity and an increased mortality at all ages. Therefore it is essential that there is a continuous and integrated approach in reference centers to improve the quality of life and prevent early mortality. There has been a growing interest in the sci...