Searchable abstracts of presentations at key conferences in endocrinology

ea0027p13 | (1) | BSPED2011

The dihydrotestosterone assay for identifying 5α-reductase deficiency: a five-year audit from a UK tertiary Paediatric Centre

Martin Iain , Smee Natalie , Mcneilly Jane , Rodie Martina , Ahmed Faisal

Background: The DHT RIA is often used in the assessment of children with suspected DSD. Affected cases have a history of consanguinity in ≤50% and many may not have a non-Caucasian background (Maimoun et al., JCEM, 2011). We aimed to assess the clinical utility of the DHT RIA in identifying cases of 5-ARD.Methods: All DHT requests in a 5 year period in a major UK tertiary paediatric centre were identified and case notes were retrieved and se...

ea0045p43 | Gonadal, DSD and reproduction | BSPED2016

Extending the clinical utility of urinary gonadotrophin estimation in turner syndrome

McNeilly Jane D , Ahmed S Faisal , Mason Avril

Background: Girls with Turner Syndrome (TS) are at increased risk of primary ovarian failure. Previous studies have demonstrated that urinary gonadotrophins (UG) can be used as a non- invasive biochemical marker of pubertal status but their value in monitoring and managing girls with primary ovarian failure is unclear.Aims: To determine the range of UG in girls with Turner Syndrome (TS) and its correlation to serum LH and FSH.Patie...

ea0086p366 | Thyroid | SFEBES2022

Use of Burch-Wartofsky score when assessing the severity of hyperthyroidism, a retrospective study

Vennard Hannah , Duvieusart Ysaline , McNeilly Jane , Kernohan Andrew

Introduction: Thyroid storm, a life-threatening endocrine emergency, requires prompt intervention and treatment to improve outcomes. The diagnosis is made clinically, based on symptoms including hyperpyrexia, tachycardia, nausea, diarrhoea and altered cognition. The Burch-Wartofsky (BW) score is a symptom-based score recommended to determine the likelihood of thyroid storm. This retrospective study aims to determine use of the BW scale and its effect on management.<p class...

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),...

ea0036P57 | (1) | BSPED2014

Effect of vitamin D treatment on glucose and insulin metabolism, and bone turnover in children with symptomatic vitamin D deficiency

El-Fakhri Nagla , McMillan Martin , McNeilly Jane , Ahmed S F , McDevitt Helen

Background: There are limited data in paediatric population on the association between vitamin D deficiency/treatment and glucose/insulin metabolism.Objective and hypotheses: This study aimed to investigate the effect of vitamin D therapy on glucose homeostasis, insulin resistance and bone turnover, in children with vitamin D deficiency.Method: 22 children aged 3 months to 10 years (nine males) who were diagnosed with vitamin D def...

ea0033oc1.3 | Oral Communications 1 | BSPED2013

The utility of AMH for predicting testosterone response to HCG stimulation in children with suspected DSD

Kyriakou Andreas , McNeilly Jane D , Shaikh M Guftar , Giacomozzi Claudio , Shapiro David , Ahmed S Faisal

Introduction: In children undergoing investigation of testicular function the relationship between serum anti-Müllerian hormone (AMH) and the testosterone response to hCG stimulation test (HST) is unclear.Methods: 71 children (three females and 68 males) with a median age of 1.08 years (range: 0.003, 14.3) were investigated for suspected DSD by AMH on D1 and testosterone on D1 and D4, before and after 3-day HST. Of these children, 27 had an addition...

ea0030p61 | (1) | BSPED2012

A prospective study of pubertal growth in children with inflammatory bowel disease

Mason Avril , Malik Salma , McMillan Martin , McNeilly Jane , Bishop Jonathan , McGrogan Paraic , Russell Richard , Ahmed Faisal

Background: Puberty is understood to be commonly affected in adolescents with Crohn’s disease (CD) and ulcerative colitis (UC).Objective: To determine the impact of IBD on pubertal status and pubertal growth.Methods: Single centre prospective study over 12 months of 45 adolescents (boys, 23) with CD and 18 (boys, 12) with UC with a median age of 13.4 years (10, 16.6). Assessment included details of disease, anthropometry and b...

ea0085p9 | Bone | BSPED2022

Bone biochemistry in children with fractures presenting with non-accidental injury

McDonald Heather , Forbes Owen , Lucas-Herald Angela , Houston James , McDevitt Helen , McNeilly Jane , Mason Avril

Background: Fractures are reported in 1/3 of children who have been abused. The Royal College of Paediatrics and Child Health (RCPCH) recommends that assessment of fractures where there is suspicion of physical abuse should include bone biochemistry: calcium (Ca), phosphate (Ph), alkaline phosphatase (ALP), parathyroid hormone (PTH) and Vitamin D (VitD).Objectives: To describe the pattern of bone biochemistry in children with fractures when non-accidenta...

ea0086p175 | Adrenal and Cardiovascular | SFEBES2022

Neonatal salt wasting: A rare case of X-linked adrenal hypoplasia congenita

Frank Amy R , Longmuir Sophie , McNeilly Jane , McGowan Ruth , Faisal Ahmed S , Smith Karen

Neonatal salt wasting can present in neonates with a life-threatening state of hyponatraemia, hyperkalaemia, dehydration and metabolic acidosis. The differential diagnosis of neonatal salt wasting includes congenital adrenal hyperplasia (CAH) most commonly due to 21-hydroxylase deficiency, pseudohypoaldosteronism (PHA), X-linked adrenal hypoplasia congenital (AHC) and aldosterone synthase defects. Diagnostic work up should include serum measurement of ACTH, Cortisol, 17OH-prog...

ea0086p177 | Adrenal and Cardiovascular | SFEBES2022

A case of 17-alpha-hydroxylase deficiency congenital adrenal hyperplasia presenting with delayed puberty

Frank Amy R , Longmuir Sophie , McNeilly Jane , McGowan Ruth , Faisal Ahmed S , Smith Karen

A 13 year old female presented with a two day history of abdominal pain and vomiting which responded to analgesia. Pelvic ultrasound showed complex ovarian cysts and a pre-pubertal uterus. Initial blood tests were consistent with hypergonadotrophic hypogonadism (LH 31.5 U/l, FSH 14.3 U/l and oestradiol <70 pmol/l) and karyotype was 46 XX. Bone age was slightly delayed (measured 12.4 years, chronological age 13.7 years). On referral to paediatric endocrinology, the patient ...