Searchable abstracts of presentations at key conferences in endocrinology

ea0078p62 | Thyroid | BSPED2021

Hypothyroid screening in children with down syndrome - a service evaluation

Harley Rachael , Smith Sarah , Hamza Sherin , Guftar Shaikh M.

Background: Individuals with Down Syndrome are at increased risk of developing thyroid disease. Given thyroid disorders represent a preventable cause of neurodevelopmental impairment, early detection and treatment are essential to maximise cognitive abilities in this already impaired population. This service evaluation sought to assess the efficacy of the Down Syndrome Hypothyroid Screening programme in its uptake and subsequent diagnosis of hypothyroidism.<p class="abstex...

ea0039oc9.3 | Oral Communications 9 | BSPED2015

National audit of transition in endocrinology: joint between society for endocrinology and the british society for paediatric endocrinology & diabetes

Gleeson Helena , Mason Avril , Shaikh Guftar , Dimitri Paul

Background: Transition is an important stage in the care of a young person with a long-term endocrine condition.Objective: To explore current services for young people (YP) with endocrine conditions from the perspective of paediatric and adult endocrinologists, and YP and their parents using their services.Methods: There were two components:- i). service questionnaire for completion by paediatric and adult endocrinologists ii). &#1...

ea0033p32 | (1) | BSPED2013

Diabetes mellitus related to Williams syndrome: first report of childhood onset

Lucaccioni Laura , Shaikh Guftar M , Craigie Ian , Giacomozzi Claudio

Introduction: Williams syndrome (WS) is a multi-systemic disorder caused by a deletion in the region 7q11.23. Childhood endocrine follow-up is mainly aimed to monitor hypercalcemia and thyroid function. A high prevalence (63–71%) of impaired glucose tolerance (IGT) and diabetes mellitus (DM) in young adults with WS is reported. WS guidelines recommend Oral Glucose Tolerance Test (OGTT) starting from 30 years of age. We demonstrate evidence of IGT and DM in WS at a much ea...

ea0030oc2.10 | Oral Communications 2 | BSPED2012

When is it justifiable to await venous thyroid function tests before starting thyroxine treatment in infants referred with capillary TSH elevation?

Pokrovska Tzveta , Jones Jeremy , Shaikh Guftar , Donaldson Malcolm

Background: In Scotland median age at notification with elevated capillary (c) TSH (>25 initially or >8 μ/l on repeat testing) is 10 (range 3–35) days. If cTSH elevation is >100 μ/l decompensated hypothyroidism (moderate: free (f) T4 5 −<10, severe: <5 pmol/l) is likely and thyroxine treatment should start without delay. If TSH elevation is mild the clinician may prefer to wait for venous (v) fT4 result and observe the infant’s pro...

ea0044p158 | Neuroendocrinology and pituitary | SFEBES2016

Follow up of patients with SDHB mutations attending a tertiary endocrine service in Greater Glasgow and Clyde

Lip Stefanie , Middleton Claire , Shaikh Guftar , Bradshaw Nicola , Freel Marie , Lindsay Robert , Perry Colin

Introduction: Patients with mutations in the Succinate Dehydrogenase Complex Subunit B (SDHB) gene are predisposed to neuroendocrine tumours such as parangangliomas, phaeochromocytomas and gastrointestinal stromal tumours. Individuals who are carriers but have no manifestation of disease require regular surveillance. Our tertiary endocrine service provides follow up/surveillance for these patients and we cover a wide geographical area throughout the West of Scotland.<p cla...

ea0039ep120 | Thyroid | BSPED2015

Combined hypothyroidism and hypoparathyroidism in an infant following maternal administration of Iodine131 in early pregnancy

Sinka Sarita , Jones Jeremy , Staines Jonathan , Kinmond Sheena , Donaldson Malcom , Guftar Shaikh M

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 ...

ea0038p90 | Clinical practice/governance and case reports | SFEBES2015

Congenital adrenal hyperplasia: are we really lost in transition?

Perry Colin , Alimussina Malika , Locke Jennifer , Pearlman Hannah , Freel Marie , Shaikh Guftar , Ahmed Faisal

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterised by impaired cortisol synthesis. In the CaHASE study, a surprisingly low number of cases were identified as attending adult endocrine clinics. It has been suggested that patients with CAH are lost to follow up around the time of transition to adult services.In our service, there is a transition clinic that has a lead paediatric and adult Consultant who attend...

ea0036P18 | (1) | BSPED2014

Suppression of bone turnover and its determinants in children receiving bisphosphonate therapy

Kyriakou Andreas , McNeilly Jane D , McMillan Martin , Guftar Shaikh M , Mason Avril , Faisal Ahmed S

Introduction: Bisphosphonate therapy (BPT) reduces osteoclast activity and may be associated with adynamic bone turnover. The extent of suppression of bone turnover and its determinants are unclear.Methods: Markers of bone metabolism were evaluated in 15 children (9M/6F) receiving cyclical BPT intravenously for osteoporosis. The median age at first biochemical assessment was 10.8 years (0.16, 16.3). Serum type I collagen cross-linked C-telopeptide (CTX),...

ea0065p111 | Bone and calcium | SFEBES2019

Hypophosphatasia in an infant: a differential diagnosis that should not be overlooked

Toellner Hannah , Chong Zhuo Min , Srivastava Rajeev , McNeilly Jane , Koppel David , Sangra Meharpal , Shaikh Guftar , McDevitt Helen , Mason Avril , Kinning Esther , Ahmed Syed Faisal

Introduction: Hypophosphatasia is a very rare inherited condition due to ALPL variants and is associated with a variable presentation.Case description: The index case initially presented at 7 months with bulging anterior fontanelle, failure to thrive and mild developmental delay. She was born at 34 weeks gestation and had amniotic bands causing digital anomalies. She was sitting at 8 months, crawling by 15 months and a hearing test was normal. A...

ea0031p334 | Steroids | SFEBES2013

Range of urinary steroid metabolite ratios in children undergoing investigation for suspected disorder of steroid synthesis

Lucas-Herald Angela , Rodie Martina , Liu Norrice , Rankin Karen , Watson Neil , Guftar Shaikh Mohammed , Donaldson Malcolm , McNeilly Jane , Shapiro David , Faisal Ahmed Syed

Background: Calculation of a urinary steroid metabolite ratio (uSMR) may be a useful method of improving diagnostic yield when investigating disorders of steroid hormone synthesis.Objective & HypothesisTo investigate the range of uSMR in children with suspected disorders of steroid hormone synthesis.Population / MethodsTen ratios were calculated on steroid metabolite data analysed b...