Searchable abstracts of presentations at key conferences in endocrinology
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44th Meeting of the British Society for Paediatric Endocrinology and Diabetes

Poster Presentations

Pituitary and growth

ea0045p62 | Pituitary and growth | BSPED2016

Clinical characteristics of Cornelia de Lange Syndrome due to an HDAC8 mutation

Wilkinson Ingrid , Thalange Nandu , Hammond Peter

J was born at term (2.62 kg). She presented aged six months with severe faltering growth, (weight 5.1 kg, length 57.3 cm, OFC 39.0 cm). Investigations showed elevated prolactin (1838 mIU/l) and undetectable IGF1 but were otherwise normal. Her karyotype was 46XX. A brain MRI was normal. By 11 months of age she had evident developmental delay and dysmorphic features (triangular face; hypertelorism; synophrys; broad nasal root; short nose with rounded tip; carp like mouth; short ...

ea0045p63 | Pituitary and growth | BSPED2016

To treat, or not to treat? – Growth Hormone (GH) deficiency in a 12 year-old boy

Hoh Yoke Sin , Ip Natasha , Goonetilleke Rajiv

Introduction: We would like to highlight an interesting case of 12 year-old boy with GH deficiency and its diagnostic dilemma.Case report: A 12 year-old boy was referred for growth failure. Over the last 3 years, his height and weight fell to the 2nd centile from the 25th and 9th centiles respectively. His poor growth was initially attributed to his Attention Deficit Hyperactive Disorder medication which was optimised wit...

ea0045p64 | Pituitary and growth | BSPED2016

Abstract unavailable....

ea0045p65 | Pituitary and growth | BSPED2016

Novel compound heterozygous mutation in ASXL3 causing bainbridge-ropers syndrome and primary IGF1 deficiency: Expanding phenotype

Giri Dinesh , Weber Astrid , Didi Mohammed , Peak Matthew , McNamara Paul , Flanagan Brian , Senniappan Senthil

Introduction: De novo truncating heterozygous mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated to cause Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features. We describe, for the first time, a patient with severe short stature secondary to IGF1 deficiency, severe learning difficulties and dysmorphic features due to novel compound heterozygous mutation in <...

ea0045p66 | Pituitary and growth | BSPED2016

Abstract unavailable....

ea0045p67 | Pituitary and growth | BSPED2016

Trends in growth hormone prescription in the UK: Results from the 3 year National Growth Hormone Audit

Saraff Vrinda , Shepherd Sheila , Patel Leena , Shaw Nick

Introduction: The National Growth Hormone (GH) audit was initiated in 2013 with funding from BSPED, to establish the ongoing trends in GH prescriptions in the UK and facilitate future long term follow up studies through a central database. Here we have studied the trends in GH prescribing and the indications for treatment from 2013 to 2015.Method: We examined data collected on a quarterly basis from centres across the UK on subjects less than 16 years of...

ea0045p68 | Pituitary and growth | BSPED2016

Normal final height in late presenting girls with Turner Syndrome (TS)

Sakka Sophia , Shaw Nick , Kirk Jeremy

Introduction: The diagnosis of Turner Syndrome (TS) must be included in the differential diagnosis of all girls with short stature. Despite overall earlier diagnosisand treatment there remain patients with TS who present late with delayed puberty.Although growth hormone (GH) is known to increase final height (FH) in girls with TS, little evidence exists on treatment in late-presenting girls.Objective and hypothesis: To assess the effect of late GH treatm...

ea0045p69 | Pituitary and growth | BSPED2016

Changes in Height and IGF-I SDS in the first year of GH treatment are related to BMI SDS

Price Victoria , Blair Jo , Hawcutt Dan

Background: During childhood, growth hormone (GH) doses are usually calculated using total body weight (TBW). This may result in inappropriately high doses in obese children where the intravascular compartment does not increase in proportion with the increase in weight, as the volume of distribution of GH is consistent with the majority of the drug being distributed in the total body water compartment.Methods: Single centre, retrospective cohort study of...

ea0045p70 | Pituitary and growth | BSPED2016

A mutation in eukaryotic translation initiation factor 2 subunit 3 (EIF2S3) associated with a novel syndrome of X-linked hypopituitarism and glucose dysregulation

Gregory Louise , Ferreira Carolina , Williams Hywel , Rahman Sofia , Alatzoglou Kyriaki , Kapoor Ritika , Jones Peter , Hussain Khalid , Gaston-Massuet Carles , Qasim Waseem , Dattani Mehul

Background: EIF2S3 (NM_001415; Xp22.11) mutations have previously been reported in a single pedigree with microcephaly and developmental delay. The gene encodes the eukaryotic translation initiation factor 2 subunit 3 (eIF2γ), the largest of three EIF2 subunits. EIF2 is a heterotrimeric GTP-binding protein, which initiates protein synthesis. It forms a ternary complex, mediating recruitment of initiator methionyl-tRNA to the 40S ribosomal subunit to scan the mRNA...