Endocrine Abstracts

We present 3 children in a single centre with Myhre syndrome (MS) due to a heterozygous SMAD4 Ile500val mutation. Consistent features were brachydactyly, joint restriction, muscular hypertrophy, genital abnormalities, conductive hearing loss and developmental delay. SGA and height were variable. Diagnosis was made by next generation sequencing in patients 1 and 3 and on the skeletal survey in patient 2. Retrospectively, features of Myhre syndrome were present on the s...

Background: The incidence of differentiated thyroid cancers is increasing, mainly due to the overdiagnosis of small papillary thyroid cancers (less than 1 cm, previously known as microcarcinomas). There is a broad consensus in reducing the surgery extent and the use of radioiodine treatment in low-risk cases by most recent clinical practice guidelines focusing on thyroid cancer treatment. The adoption in real clinical practice is usually slow. The aim of this study is to estim...

Disturbed oestrogen homeostasis is associated with an increased risk of cardiovascular disease. However, the impact of dysregulated oestrogen signalling on vascular development, maintenance and disease is not fully understood. Zebrafish is a well-established model in translational vascular research. In addition, oestrogen receptor expression and oestrogen-responsiveness in endothelial cells (EC) is conserved in zebrafish. Therefore, the aim of this study was to characterise th...

Autoimmune polyglandular syndrome type 2 can be associated with alopecia areata. We present herein a case of a female patient, 42 years old, who suffered from autoimmune thyroid disease with hypothyroidism and autoimmune adrenalitis and who was recently diagnosed with alopecia areata. She accused sudden, asymptomatic hair loss, which she noticed 3 months ago, accompanied by a burning sensation in her scalp. Her menstrual cycles were normal. The clinical examination identified ...

Background: AIT type 2 is self-limiting in nature and therefore discontinuation of amiodarone may not be necessary; however, the feasibility of continuing amiodarone has never been tested formally. Potassium perchlorate (KClO4) may have advantage when prednisone is unsuccessful in AIT type 2, possibly due to mixed cases of types 1 and 2. KClO4 also mitigates the cytotoxic effect of desethylamiodarone on thyrocytes in vitro.Ob...

Introduction: Currently, type 1 diabetes (T1D) is defined by the autoimmune destruction of the pancreatic β cells that culminates in dependence on exogenous insulin, typically 1–3 years after diagnosis. This ability to maintain a residual function of pancreatic β cells is, however, heterogeneous, appearing to be worst if the disease is early diagnosed. Recently, it was demonstrated that many type 1 diabetic patients produce small amounts of insulin decades after...

The LH receptor (LHR) is essential for mediating multiple functions in reproduction and pregnancy. LHR belongs to the superfamily of G-protein-coupled receptors (GPCRs) that impacts nearly every aspect of human physiology and pathophysiology. Membrane trafficking is a critical mechanism for cells to decode complex signalling networks into specific downstream responses, including the signalling pathways activated by GPCRs. A detailed molecular description of GPCR trafficking is...

Introduction: Pregnancy in a patient with acromegaly is uncommon, as the enlarging pituitary adenoma suppresses gonadotropin secretion rendering the patient amenorrhoeic and infertile. About 40% of the women with pituitary adenomas also have hyperprolactinaemia, which further decreases the likelihood of pregnancy.Case report: A 32-year-old woman was sent to our centre in the first trimester of pregnancy with the diagnostic of gestational diabetes. Clinic...

Prokineticin receptors (PKR1 and PKR2) are GPCRs that belong to neuropeptide Y receptor class. They exert their biological functions binding two structurally related peptides (Bv8 or PK2 and EG-VEGF orr PK1). Intensive research over the past few years has shown that PKs/PKRs signalling modulates neuronal survival and neurogenesis, hypothalamic hormone secretion, nociception, circadian rhythm and complex behaviours, such as feeding and drinking. It also promotes angiogenesis in...

Introduction: Lipid profile characterization in women with gestational diabetes mellitus (GDM) and its impact on post-partum dysglycemia remains to elucidate. The aim of this study was to evaluate lipid profile in women with GDM during pregnancy and 8 weeks after and to study its correlation with glycemic control.Methods: This study was carried out in a central hospital in Portugal. All women with GDM diagnosed from January/2014 to December/2015 were enr...