Endocrine Abstracts

Introduction: Hemangioblastomas (HBL) in the pituitary stalk are extremely rare. Most pituitary stalk HBL reported in the literature were associated with von Hippel–Lindau (VHL) disease.Case report: We report the case of a 34-year-old female patient with VHL disease diagnosed at the age of 18 with multiple complications (bilateral retinal and cerebellum HBL, renal cell carcinoma). Brain magnetic resonance imaging (MRI) demonstrated an hypointense su...

Introduction: The endocrine system is often affected in the course of HIV infection. However, hypopituitarism and diabetes insipidus are uncommon disorders in these patients and have been related to drugs, infections of the central nervous system and neoplastic infiltration, in extremely rare cases.Case report: We present a case of a 42-year-old man with HIV infection known since 2005, but undergoing antiretroviral therapy only since 2010 (emtricitabine/...

Introduction: CHARGE Syndrome (CS) is a rare cause of hypogonadotropic hypogonadism (HH), usually diagnosed in paediatric age when pubertal development is compromised. Herein, we report a case that presented a major criterion and three minor criteria.Case report: At age ten, the patient was referred to the paediatric endocrinology unit due to phenotypic alterations and psychomotor and cognitive impairment. She had no family history of consanguinity, inhe...

Obesity epidemic is one of the major concerns in the world. Worryingly, a high percentage of pregnant women have obesity, which could imply several consequences. Maternal obesity leads to different abnormalities in pregnancy and delivery. In addition, recent studies show that the offspring of obese mothers has an increased probability to suffer cardiovascular, metabolic and reproductive diseases. We have previously demonstrated that exposure to a high fat diet is related to ob...

Background: The review of the Bethesda System Classification has brought some challenge to the clinical role of category III lesions. Repeating fine-needle aspiration (FNA) is time-consuming, painful, brings additional cost and sometimes does not change the clinical decision. Our aim was to prove if there is true benefit in repeating FNA.Methods: Retrospective review of 4549 thyroid FNAs between January 2012 and June 2015, from which 671 classified as AU...

Introduction: Mutations in the ret gene are responsible for the transmission of inherited medullary thyroid cancer (MTC). In recent years a high prevalence of the ‘rare’ exon 8 mutation (G533C) has been found in patients with inherited MTC in Greece. The aim of this study was to record with more detail the place of origin of these families in the country.Design: We analysed the details of 44 patients belonging to 22 families who were c...

Introduction: Hypoglycemia consists a significant problem in insulin treated type 2 diabetic patients. The present study compared the incidence of hypoglycemic episodes in type 2 diabetics between continuous glucose monitoring/CGM vs self monitoring of blood glucose/SMBG.Methods: Seventeen patients with type 2 diabetes underwent a 24 h CGM for a period of 3–5 consecutive days. At the same period they recorded their glucose values using SMBG from fou...

Background: Continuous subcutaneous insulin infusion (CSII), alongside multiple daily injections (MDI) are the most frequent therapeutic of type 1 Diabetes Mellitus (DM). We aimed to evaluate the effects of the transition from MDI to CSII in the treatment of type 1 DM.Patients and methods: This retrospective longitudinal study analysed patients that received treatment with CSII from 2006 to 2014. Our sample had 85 patients, 35 male (41.2%) and 50 female ...

Aim: To develop a cost effective and individualised service model for GH replacement therapy based on a joint decision making process with patients and commissioners.Background: At University College London Hospital (UCLH), we have a caseload of about 300 adult patients treated with GH. Our in house structured GH treatment proforma is used at the patient’s initial consultation for joint decision making on prescribing the most suitable GH, e.g. non-r...

Introduction: Osteoporosis is a systemic skeletal disease with a strong genetic component. The androgen receptor (AR) is encoded by the AR gene and mediates the action of androgens, which play an important role in bone metabolism. Polymorphisms in the AR gene may be implicated in the pathogenesis of osteoporosis.Objectives: The present study aimed to explore the influence of the (CAG)n repeat polymorphism of AR</em...