Endocrine Abstracts

IntroductionMaturity Onset Diabetes of the Young (MODY) type 1 is characterized by mutations in hepatocyte nuclear factor 4a (HNF4a) gene, leading to progressive dysfunction of pancreatic beta-cells with optimal response to sulphonylurea treatment. However, most of these patients are initially misdiagnosed as having type 1 diabetes and inappropriately treated with insulin. Data on adequate transferring from insulin to sulphonylureas following gen...

Introduction: Klinefelter syndrome (KS) is the most common congenital abnormality causing primary hypogonadism. It occurs in about 1 in 660 live male births. The clinical manifestations include tall stature, small testes, gynecomastia and neurocognitive impairment. Nevertheless, the KS phenotype varies greatly, which might be one of the reasons why the syndrome is highly underdiagnosed. KS is associated with several clinical conditions and increased morbidity/mortality. Testos...

Introduction: Triple X syndrome is the most common female chromosomal abnormality, with an estimated incidence of 1/1000 female newborns. Most of the women are phenotypically normal, apart from being taller than average. Possible additional problems are psychiatric disorders, genitourinary malformations, EEG abnormalities, scoliosis and premature ovarian insufficiency.Case report: 46-year-old female, referred to the Endocrinology department due to second...

Background: Residual C-peptide (CP) secretion has been associated with better glycemic control in patients with type 1 diabetes (T1D).Aim: To evaluate how residual fasting CP (fCP) secretion impacts glycemic control in T1D and to identify possible confounding factors.Methods: A retrospective analysis of adult patients with T1D followed in our department that had their fCP and glucose levels obtained on the same blood sample during ...

Background: The use of Flash Glucose Monitoring (FGM) for the management of type 1 diabetes mellitus (T1D) is rapidly increasing.Aims: To assess the longitudinal evolution of glycated haemoglobin (HbA1c) and body mass index (BMI) with the use of FGM in patients with T1D; to determine predictive factors of benefit with the use of this technology.Materials and methods: Retrospective study of T1D patients, using FGM ≥6 months an...