Endocrine Abstracts

A 59-year-old gentleman presented to the Medical Admission Unit with facial and ankle oedema following a dog bite. He did not have any significant past medical history. Initially, he was treated for angioedema. His oedema worsened to anasarca, blood pressure rose and was found to be hypokalaemic. Echocardiogram showed a normal left ventricular ejection fraction. Urine protein creatinine ratio was <0.5 g/24 h. Vasculitic and autoimmune screen were negative. Eight weeks late...

GHI is a genetic condition in which patients present with growth failure due to primary IGF1 deficiency caused by a defect in the GH-IGF1 axis. In the last 10 years in the Centre for Endocrinology of WHRI at Barts and the London, 24 causative mutations in genes of the GH–IGF1 axis have been determined in 58 patients (Table 1). STAT5B mutations were responsible in 2 cases, IGFALS in 4 but the majority of defects identified were in GHR. Most mutations identifi...

Objective: The terminology used to describe abnormalities of sex determination and sex differentiation was revised in 2006. It was anticipated that new terms, such as “disorder of sex development” (DSD), would improve communication between health professionals, aid parental understanding and be acceptable to affected individuals. The purpose of this study was to evaluate whether the new terminology has been an improvement compared to previous nomenclature.<p clas...

Introduction: Silver–Russell Syndrome (SRS) is a heterogeneous condition characterised by low birth weight, postnatal growth failure and clinical features including relative macrocephaly, limb or facial asymmetry and a triangular facies with broad forehead, pointed chin and downturned mouth. SRS been linked to a number of genetic abnormalities including maternal uniparental disomy (UPD), of chromosome 7 and hypomethylation of the IGF2-H19 imprinted region on chromosome 11...

Von-Hippel Lindau syndrome (VHL) is a familial disorder presenting in children with a range of different neoplasia. A paediatric screening protocol was published in 2000 and has now been applied to patients in our centre. Screening for VHL is multi-disciplinary involving clinical, biochemical, and radiological investigations.Methods: Data was collected between 2000 and 2007 in 14 children on compliance with screening and identification of pathological le...

Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant condition that is rare in childhood. MEN2 is sub-classified into three categories that all include familial medullary thyroid carcinoma (MTC). Familial MTC has no other associated tumours. MEN2A is characterised by MTC, phaeochromocytoma and parathyroid tumours and MEN2B consists of MTC, phaeochromocytoma, ganglioneuromatosis and usually a Marfanoid habitus. The identification of RET as the causative gene has ...

A minority of patients with hyperthyroidism resulting from relapsed Grave’s disease or autonomous nodules refuse definitive treatment with surgery or radioiodine, and request long-term anti-thyroid medication. There are few data concerning the safety and efficacy of this therapeutic modality.We performed a retrospective analysis of 13 patients (8 relapsed Grave’s disease, 5 toxic MNG), 12F, median age 60 (31–76) yrs and duration of long-te...

Background: Many Endocrinologists believe that preoperative localisation/lateralization in patients undergoing initial neck exploration for primary hyperparathyroidism is unimportant because of high cure rate in the hands of experienced surgeons. Tcm-MIBI imaging has a sensitivity of 70 to 95% in localizing parathyroid tumors. Ultrasonography has lower sensitivity but is noninvasive and relatively cheap. Unilateral surgical exploration has potential benefits including reduced ...

Background: Childhood growth monitoring aims to identify growth failure and detect underlying pathology. According to UK guidance, height <-2.7 standard deviation score (SDS) (<0.4th percentile) is used as the referral threshold. Additional referral criteria include height deficit (HSDS-target height SDS) <-2.0 and height velocity (HV) SDS <-1.3. Lack of routine HV and mid-parental height calculation, combined with stricter cut-offs compared to other European c...

Background: GH resistance or primary IGF1 deficiency (PIGFD) presents with growth failure, low serum IGF1 and normal/elevated serum GH. PIGFD comprises a spectrum of phenotypic and biochemical abnormalities for which genetic GH–IGF1 axis defects may be causative.Objective: Genotyping of PIGFD patients referred for sequencing of candidate genes.Methods: From 2008 to 2013, 62 patients (42 males and 20 females), median age 6.9 ye...