hrp0082p1-d2-249 | Thyroid (1) | ESPE2014

Capillary TSH Cut-off Levels for Congenital Hypothyroidism Screening: Evidence Against Adopting the UK Threshold of 10 mIU/l

Jones Jeremy , Shaikh Guftar , Mason Avril

Background: The recommended capillary TSH cut-off level for neonatal screening for congenital hypothyroidism (CH) in the UK is 10 mIU/l. However several of the regional screening laboratories have adopted lower cut-off limits in order to increase detection sensitivity. There is now pressure to standardise the UK screening programme with universal adoption of the recommended cut-off. Scotland has been using a cut-off of 8 mIU/l since the adoption of AutoDELFIA TSH screening met...

hrp0094p2-390 | Pituitary, neuroendocrinology and puberty | ESPE2021

A case of partially Empty Sella with hypopituitarism in a child

Pratap Rajat , Mason Leah , Basu Supriyo ,

Introduction: Empty Sella (ES) is a radiological finding which is due to herniation of subarachnoid space into sella turcica. It’s partial, when <50% space is filled with cerebrospinal fluid (CSF) and complete, when CSF fills >50% with pituitary gland flattened to <=2mm. Actual occurrence is debatable and often noted incidentally during magnetic resonance imaging (MRI). However, it can cause pituitary hormone (PH) dysfunctions, most commonly g...

hrp0092t19 | Top 20 Poster | ESPE2019

Urinary Gonadotrophins in Girls with Turner Syndrome

Boncompagni Alessandra , McNeilly Jane , Murtaza Mohammed , Iughetti Lorenzo , Mason Avril

Background: Girls with Turner Syndrome (TS) are at an increased risk of primary ovarian failure. Oestrogen replacement is commenced at around the age of 12 years, in girls who do not enter puberty spontaneously, with incremental changes to the dose over the next 3 years until adult replacement doses are achieved. We have previously shown good correlation between serum and urinary LH (uLH) and FSH (uFSH) in children being assessed for disorders of puberty.<...

hrp0086p1-p812 | Syndromes: Mechanisms and Management P1 | ESPE2016

Skeletal Disproportion in Girls with Turner Syndrome

McVey L , Fletcher A , Murtaza M , Donaldson MD , Wong SC , Mason A

Background: Turner Syndrome (TS) is associated with short stature and skeletal disproportion. The impact of treatment with recombinant human growth hormone (rhGH) and oestrogen therapy on body proportions is unclear.Objectives: To evaluate sitting height (SH) and leg length (LL) in TS before growth promoting therapies and at adult height.Method: Retrospective study of height (Ht), SH and LL standard deviation score (SDS) in TS. Bod...

hrp0084p3-1234 | Turner | ESPE2015

Cardiovascular Assessment in Turner Syndrome: Current Practice in the United Kingdom

Mason A , Smyth A , Ahmed S F , Wong S C

Background: In 2007, the Turner syndrome (TS) Consensus Study Group developed an international guideline for clinical care of girls and women with TS. Given emerging concerns of long term cardiovascular complications, the consensus recommends that cardiac MRI should be performed when girls are old enough to tolerate the procedure or at the time of transition and to be repeated at least every 5–10 years.Method: We conducted a survey of cardiovascular...

hrp0092rfc2.6 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Impact of Pubertal Suppression on Body Composition and Bone Mineral Density in Adolescents with Gender Dysphoria

Shepherd Sheila , Dewantoro Dickson , Gerasimidis Konstantinos , Shaikh M Guftar , Mason Avril , Choong Wong Sze , Kyriakou Andreas

Introduction: Pubertal suppression with gonadotrophin releasing hormone (GnRH) analogue is introduced after the onset of puberty in adolescents with gender dysphoria (GD). As puberty is a critical period for bone accrual and changes in body composition, alterations in body composition and bone mass may be observed during treatment.Methods: Thirty-eight adolescents (32/38 assigned females at birth) with GD had dual energy...

hrp0089p1-p030 | Bone, Growth Plate &amp; Mineral Metabolism P1 | ESPE2018

Bone Biochemistry in Children with Fractures Presenting with Suspected Non-accidental Injury

Forbes Owen , McNeilly Jane , McDevitt Helen , Houston James , Ahmed S. Faisal , Mason Avril

Introduction: Fractures have been recorded in up to one third of children who have suffered from physical abuse. The British Paediatric and Adolescent Bone Group (BPABG) position statement on vitamin D states that the level of 25 hydroxyvitamin D is not relevant to causation of fractures unless there is radiological or biochemical evidence of rickets. Clinicians are often asked in the court setting about the relevance of abnormal serum investigations in children who have fract...

hrp0086p1-p803 | Syndromes: Mechanisms and Management P1 | ESPE2016

Body Surface Area Estimation in Girls with Turner Syndrome: Implications for Interpretation of Aortic Sized Index

Fletcher A , McVey L , Guaragna-Filho G , Hunter L , Lemos-Marinia SHV , Santoro RI , Mason A , Wong SC

Background: Aortic sized index (ASI) defined as aortic root size/body surface area (BSA) is used to provide information on dissection risk in Turner Syndrome (TS). There are multiple equations for estimation of BSA. The impact of using a different BSA equation for calculation of ASI is unknown.Method: We calculated BSA of 114 TS girls from 2273 outpatient visits using Dubois, Mostellar, Haycock, Gehan, Boyd and Furqan formulae. BSA estimation with Dubois...

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...

hrp0086p1-p890 | Thyroid P1 | ESPE2016

The Molecular Causes of Congenital Hypothyroidism: The Scottish experience

Kourime Mariam , Jones Jeremy , Ansari Aisha , Bradley Therese , Mason Avril , Shaikh Guftar

Background: Inherited forms of congenital hypothyroidism (CH) account for approximately one quarter of all causes of CH. These include biosynthetic defects and developmental and morphological abnormalities.Objective: Describe the Scottish experience of genetic testing in CH.Method: Retrospective study over 37 years up to March 2016. Patients were selected on the basis of imaging findings or strong family history of CH.<p class=...