hrp0095p1-430 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Importance of early detection of familial hypomagnesemia in preventing neurological handicap

Marzouk Asma , Tej Amel , Dworniczak Bernd , Donaldson Malcolm

Background: Hereditary hypomagnesemia with secondary hypocalcemia (HSH) is a are autosomal recessive disorder which presents in early infancy with generalized convulsions, or other symptoms related to increased neuromuscular excitability. Several mutations in the TRPM6 gene have been described. Early diagnosis is an effective means of preventing the inevitable neurocognitive sequelae which occur in the absence of appropriate treatment.<s...

hrp0092p3-196 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Precocious Pseudo-Puberty Presenting with Bilateral Ovarian Involvement and Progressing to Juvenile Granulosa Cell Tumor in a 2-Year-Old Girl

Barakizou Hager , Donaldson Malcolm , Huma Zilla , Amary Fernanda , Gannouni Souha

Background: Feminising preocious pseudo-puberty in McCune Albright syndrome (MAS) and juvenile granulosa cell tumour (JGCT) arises from bilateral and unilateral estradiol hypersecretion respectively. GNAS mutations have been described in some cases of JGCT as well causing MAS.Aim: To describe a case in which MAS was evoked initially, but then progressed to JGCTCase: A girl aged 2 y...

hrp0086p1-p892 | Thyroid P1 | ESPE2016

Transient TSH Elevation in Infants Referred on Newborn Screening – Features, Prevalence and Trends

Ouarezki Yasmine , Jones Jeremy , Fitch Moira , Shaikh Guftar , Donaldson Malcolm

Background: Up to 20% of infants referred on newborn congenital hypothyroidism (CH) screening are subsequently shown to have transient TSH elevation rather than permanent CH. Correct identification of such cases is important to avoid prolonged treatment with thyroxine and unnecessary clinic attendance.Objective: To determine the prevalence, trends and profile of infants with transient TSH elevation referred between August 1979 and December 2015 by the Sc...

hrp0082p2-d1-362 | Fat Metabolism &amp; Obesity | ESPE2014

Age at Onset of Weight Gain in Prader–Willi Syndrome is Often Between 1 and 2 Years, Preceding the Hyperphagic Phase; Implications for Management

Donaldson Malcolm , Hammed Noran Abu-Of , Shaikh M Guftar

Background: Prader–Willi syndrome (PWS) results from loss of paternally imprinted genes from the 15q11–13 region and causes hypotonia with weight faltering in infancy, followed later by obesity which is classically attributed to hyperphagia.Objective and hypotheses: To determine, where possible, the age at onset of unwanted weight gain (as opposed to actual obesity) in children with PWS attending a specialist clinic.Metho...

hrp0095p1-204 | Adrenals and HPA Axis | ESPE2022

Reduced cognitive function in children with classical 21-hydroxylase deficient congenital adrenal hyperplasia (21OHD-CAH).

Ladjouze Asmahane , Hamiche Nalia , Boulesnane Kamelia , Aboura Rawda , Bouhafs Nadjet , melzi souhila , Bouzerar Zair , Donaldson Malcolm

Background: In the absence of a national screening program for congenital adrenal hyperplasia (CAH), children are often diagnosed late, when unwell with salt-wasting crisis or hypoglycemic symptoms. In 21-hydroxylase deficient CAH (21OHD-CAH), girls usually present with a disorder of sex development (DSD) and are thus diagnosed earlier than boys who present with salt-wasting.Aim: To investigate the global intelligence of...

hrp0095p1-390 | Thyroid | ESPE2022

Does serum thyroglobulin predict thyroxine requirement during infancy in athyreosis and thyroid ectopia?

Kallali Wafa , Neumann David , Jones Jeremy , Hunter Ian , Tasker Anthony , Smith Karen , Shaikh Guftar , Donaldson Malcolm

Background: Thyroglobulin (Tg), a protein synthesized uniquely in the thyroid gland, may be elevated in primary congenital hypothyroidism (CH) due to increased TSH drive, absent in true athyreosis and Tg deficiency, and very elevated in some types of dyshormonogenesis.Hypothesis: Serum Tg at the time of newborn screening may reflect the amount of thyroid tissue present in apparent athyreosis and thyroid ectopia, and henc...

hrp0092fc5.1 | Thyroid | ESPE2019

Randomised Trial of Block and Replace Versus Dose Titration Antithyroid Drug Treatment in Children and Adolescents with Thyrotoxicosis

Wood Claire , Cole Michael , Donaldson Malcolm , Dunger David , Matthews John , Pearce Simon , Cheetham Tim

Background: First line treatment for thyrotoxicosis is thionamide (TA) antithyroid drug therapy. The TA used is usually Carbimazole in the UK. TA can be administered in a relatively large 'blocking' dose that prevents endogenous thyroid hormone synthesis, requiring thyroid hormone replacement (block and replace or BR), or in a smaller dose that renders the patient euthyroid (dose titration or DT). The American Thyroid Association (ATA) recommends DT be...

hrp0089p1-p255 | Thyroid P1 | ESPE2018

Patterns of Thyroglobulin Levels in Infants Referred With High TSH on Newborn Screening, Compared with Iodine-sufficient Healthy Controls

Kallali Wafa , Neumann David , Krylova Katerina , Jones Jeremy H. , Smith Karen , Shaikh Guftar , Donaldson Malcolm

Background: Thyroglobulin (Tg) is exclusively synthesised by thyroid tissue and a potentially useful aid to diagnosis in congenital hypothyroidism (CH). However, its role has yet to be fully evaluated.Objective: To examine the sensitivity and specificity of Tg in helping define the etiology of CH.Patients and methods: Tg was measured in a single laboratory by Immulite 2000 chemiluminescent immunometric assay (CVs 9.8, 5.7 and 5.7% ...

hrp0086p1-p825 | Syndromes: Mechanisms and Management P1 | ESPE2016

Screening of Birth Length and Parental Height Detects Infants with Poor Catch-Up Growth at Age 2 Years

Sardar Colette Montgomery , Donnelly Sharon , Siddique Jamila , Kinmond Sheena , Gault Emma Jane , Donaldson Malcolm

Background: A programme of measuring birth length (BL) and parental heights (PH) for neonates classified as Small for Gestational Age (SGA, Birth Weight (BW) <9th centile, UK 1990 reference data) has been adopted in one Scottish hospital since 2008. Neonates with Short Stature (BL≤−2 standard deviation scores/SDS) are invited for re-measurement of weight and height at age 2 years, thus making medical services aware of individuals who have not had ade...

hrp0086p2-p836 | Syndromes: Mechanisms and Management P2 | ESPE2016

Renal Anomalies in Children with Turner Syndrome: Experience from a Single-Centre

Lucaccioni Laura , Wong Sze Choong , Strano Rosario , Donaldson Malcolm , Cascio Salvatore , Mason Avril

Background: Renal abnormalities are estimated to be present in 30–40% of Turner Syndrome (TS). Monosomic patients have a reported greater risk for renal anomalies.Objective: To assess the frequency of renal malformations in TS according to karyotype; and report related complications at most recent follow up.Methods: The medical records of 182 patients with TS born between 1970 and 2013 were retrospectively reviewed.<p clas...