Endocrine Abstracts

The Prader Willi syndrome (PWS) is a complex, neurodevelopmental disorder resulting from absence of expression of imprinted genes in the 15q 11–13 region, usually due to deletion in the paternal chromosome (pd15q) or disomy of the maternal chromosome 15 (upd). Prompt diagnosis of PWS is beneficial for counselling families, managing the hypotonia and poor feeding that characterise the perinatal period and facilitating early interventions that may improve body composition a...

Vitamin D deficiency is a particular concern in pregnancy as it can affect both mother and infant, with problems lasting into childhood. A high prevalence of deficiency during pregnancy has been reported among known risk groups. Current guidelines on supplementing pregnant women are conflicting, with universal replacement recommended by the Department of Health but not supported by NICE guidelines. We aimed to determine the prevalence of vitamin D deficiency in a West London p...

Vitamin D is essential to the control of calcium homeostasis and is mainly provided by exposure to sunlight. In the UK circulating Vitamin D is subject to seasonal variation with peak values occurring in early Autumn and trough values in late Spring. Requests for Vitamin D assays are increasing but few laboratories quote seasonal reference ranges and many commercial suppliers quote reference ranges for populations living in warmer, sunnier climates. This study established seas...

Growth hormone (GH) is thought to have a dual effect (direct and indirect) on bone metabolism. We sought to explore the inter-relationships and potential determinant factors of several markers of bone turnover in GH deficient adults (GHD), as well as possible acute changes arising from GH.24 GHD subjects [14 M, 10F; age (range, 24-74 yrs)] were studied after consent and ethical approval. They were randomised into three groups (GP) of 8 subjects, each to ...

Insulin like growth factor-1 (IGF-1) has been shown to co-vary with renal function in a number of physiological and pathological conditions. However, this relationship and possible co-variants have not been specifically explored in untreated growth hormone deficient adults (GHDA). To examine this issue, we studied 24 GHDA subjects (14M, 10F) in the fasted state twice after obtaining consent and ethical approval. The Cockcroft and Gault equation was used to calculate creatinine...

Objective: To assess prevalence, clinical features, and follow-up of renal/urological malformations in patients with Turner syndrome (TS).Methods: The medical records of 182 patients with TS born between 1970 and 2013 were retrospectively reviewed.Results: Twenty-one girls (11.5%) were identified with renal/urological anomalies: 15 (71%) horseshoe kidney (HSK), 1 (4.7%) malrotation, 2 (9.5%) single kidney, and 1 (4.7%) duplex colle...

Background: Recent consensus recommends assessment of aortic dimensions with aortic sized index (ASI) normalized for body surface area (BSA) defined as absolute aortic dimension/BSA, in girls with Turner syndrome (TS) as young as 10 years. There are currently multiple formulae for estimating BSA without agreement on a preferred method. We assess the clinical validity of each formulae as this may have implications on interpretation of ASI.Method: We calcu...

Background: In adults, hypoparathyroidism is a rare, but recognised complication of radioactive Iodine therapy. Hypothyroidism has been reported in neonates who have been exposed to Iodine131 in-utero, however, only one case of neonatal hypoparathyroidism secondary to maternal Iodine131 therapy has been described in the literature. To our knowledge this is the first case in the UK.Case presentation: A 27-year-old woman received two ...

Introduction: Middle ear disease in Turner syndrome (TS) is common, often resulting in troublesome temporary hearing loss, and more rarely to serious suppurative disease with cholesteatoma formation. We have examined the prevalence and pattern of middle ear disease in our TS clinic in relation to age and karyotype.Methods: Case note review of all girls with TS attending clinic 1989–2012, scoring the most serious middle ear problem for each as: none ...

Background: Paediatric thyrotoxicosis due Graves’ disease (GD)and Hashimoto’s thyroiditis (HT) disease is both more rare yet more severe than in adulthood. Antithyroid drug treatment (ATD) is with carbimazole or PTU either alone (dose titration (DT)) or with L-thyroxine (L-T4) – block and replace (BR).Methods: We have examined outcome of medical treatment in a cohort of patients treated from 1989 to...