ESPE Abstracts

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...

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...

Background: Management of adrenal insufficiency(AI) during sick-day episodes require adjustment of oral glucocorticoid therapy or administration of intramuscular injection to prevent adrenal crisis. Education of families of a young person with AI on management during sick day episode is therefore critical.Aim: To critically appraise patient education of sick-day episode management of adrenal insufficiency by conducting</...

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.<...

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...

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...

Background: Turner Syndrome (TS) is commonly complicated by otological problems, of which middle ear infections, conductive and sensorineural hearing losses are most frequent. Middle ear infection and hearing loss, isolated or in combination, have putative roles in balance disturbance and may be related to the increased fracture risk exhibited in TS in adulthood. Our aim was to both establish the prevalence of balance problems in TS during childhood and explor...

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...

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...

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...