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43rd Meeting of the British Society for Paediatric Endocrinology and Diabetes


Oral Communications 5

ea0039oc5.1 | Oral Communications 5 | BSPED2015

Mutations in IGSF10 cause self-limited delayed puberty

Howard Sasha , Guasti Leonardo , Ruiz-Babot Gerard , Mancini Alessandra , David Alessia , Storr Helen , Metherell Louise , Cabrera Claudia , Warren Helen , Barnes Michael , Wehkalampi Karoliina , Gothilf Yoav , Andre Valentina , Cariboni Anna , Dunkel Leo

Background: Abnormal pubertal timing affects over 4% of adolescents and is associated with adverse health and psychosocial outcomes. Previous studies estimate that 60–80% of variation in the timing of pubertal onset is genetically determined. However, despite this strong heritability, little is known about the genetic control of human puberty. Self-limited delayed puberty (DP) segregates in an autosomal dominant pattern, but in the majority of patients the neuroendocrine ...

ea0039oc5.2 | Oral Communications 5 | BSPED2015

Genetic characterisation of children with short stature and GH or IGF1 insensitivity by single gene and whole exome sequencing

Shapiro Lucy , Savage Martin , Metherell Lou , Storr Helen

Background: GH insensitivity (GHI) encompasses growth failure, low serum IGF1 and normal/elevated serum GH. IGF1 insensitivity results in pre- and postnatal growth failure with normal/relatively high IGF1 levels.Objective: To undertake candidate gene (CGS) and whole exome (WES) sequencing to obtain a genetic diagnosis in children with short stature and GHI or IGF1 insensitivity.Methods: As a referral centre for GHI genetics, since ...

ea0039oc5.3 | Oral Communications 5 | BSPED2015

Dominant negative STAT5B variants in two families with mild GH insensitivity and eczema

Pease-Gevers Evelien , Klammt Jurgen , Andrew Shayne , Kowalczyk Julia , Metherell Lou , Neumann David , Dattani Mehul , Hwa Vivian

Background: Homozygous mutations in STAT5B result in GH insensitivity and immune dysfunction. Heterozygous dominant negative mutations have not been described.Aims and objectives: To assess STAT5B sequence in children selected for a phenotype suggestive of Stat5b deficiency. To further characterize genomic STAT5B variants in two families.Methods: Selection of children from a tertiary Paediatric Endocrine ...

ea0039oc5.4 | Oral Communications 5 | BSPED2015

White matter integrity and neurocognitive deficits in children with hyperinsulinemic hypoglycaemia and ketotic hypoglycaemia: a comparison study

Kumaran Anitha , Bullock Jemima , Seunarine Kiran , Chong Kling , Kapoor Ritika , Vargha-Khadem Fareneh , Clark Chris , Hussain Khalid

Background: Children with hyperinsulinaemic hypoglycaemia (HH) are at a high risk of brain injury, while children with ketotic hypoglycaemia (KH) are believed to be neurologically normal, due to the absence and presence respectively of ketone bodies that act as an alternate fuel during hypoglycaemia. Our objective was to ascertain if children with HH sustain greater white matter (WM) injury in comparison to children with KH.Methods: Neurologically normal...

ea0039oc5.5 | Oral Communications 5 | BSPED2015

A novel, missense, mutation (P81R) in the TRH receptor gene in congenital central hypothyroidism

Koulouri Olympia , Nicholas Adeline , Schoenmakers Erik , Mokrosinski Jacek , Lane Frances , Cole Trevor , Kirk Jeremy , Farooqi Sadaf , Chatterjee Krishna , Gurnell Mark , Schoenmakers Nadia

Background: Congenital, isolated, central, hypothyroidism (CCH), is rare and evades diagnosis on TSH-based congenital hypothyroidism screening programmes in the UK. Genetic ascertainment is therefore paramount in enabling prompt diagnosis and treatment of familial cases. Recognised causes include TSHB and IGSF1 gene defects, with only two previous reports of biallelic, highly disruptive (nonsense; R17X, in-frame deletion and missense; p.S115-T117del+T118), mu...

ea0039oc5.6 | Oral Communications 5 | BSPED2015

Bone histomorphometry in patients with TMEM38B mutations suggests a novel patho-mechanism leading to increased bone fragility

Webb Emma , Balasubramanian Meena , Fratzl-Zelman N , Titheradge H , Cole Trevor , Stewart S , Crabtree Nicola , Cabral W B , Owens B , Roschger P , Klaushofer K , Marini J C , Shaw N , Hogler W

Background: TMEM38B is a ubiquitously expressed monovalent cation-specific channel protein hypothesized to play a role in intracellular calcium homeostasis. To date, only two unique recessively inherited exon deletions in TMEM38B have been reported in 17 individuals with osteogenesis imperfecta (OI). Data on bone histomorphometry and bone material property have not previously been presented.Cases: Targeted next generation sequencing was performe...

ea0039oc5.7 | Oral Communications 5 | BSPED2015

Prevalence, management, and long-term outcomes of osteonecrosis in young people with acute lymphoblastic leukaemia

Amin Nadia , Kinsey Sally , Feltbower Richard , Mushtaq Talat , James Beki

Introduction: Osteonecrosis is an increasingly common complication in young people treated for acute lymphoblastic leukaemia (ALL). This is likely to be due to the now universal use of high dose steroids.Aim: The aim of this study was to obtain information on prevalence, current UK management and long-term outcomes of patients.Methods: We retrospectively collated data on patients with osteonecrosis for the most recently completed t...

ea0039oc5.8 | Oral Communications 5 | BSPED2015

Neonatal TSH: is it useful and appropriate as an indicator of iodine insufficiency in the UK?

Sharif Sahar , Jones Jeremy , Smith Sarah , Combet Emilie

Introduction: The World Health Organisation (WHO) states that in an iodine sufficient population <3% of neonatal TSH values will exceed 5 mU/l. In Belgium and Wales 2.6 and 1.5% of values were above 5 mU/l respectively.Methods: Neonatal TSH (neoTSH) levels (AutoDELFIA fluoroimmunoassay, 2006–2013, Scotland) were analysed for prevalence of high value according to cut-off, season and feeding mode (IBM SPSS 22).Results: Out o...

ea0039oc5.9 | Oral Communications 5 | BSPED2015

Assessing aortic dilatation using aortic sized index is inappropriate in children and adolescents with Turner syndrome

Wong S C , Ehtisham S , Cheung M , Zacharin M

Background: Aortic sized index (ASI) defined as aortic dimensions/body surface area (BSA), has been proposed as a method of identifying aortic dilatation in Turner syndrome. A recent paper reported centile charts of aortic dimensions across for BSA using echocardiogram in 451 children and adults with TS allowing for calculation of Z scores.1Methods: We report Z scores for aortic root adjusted for BSA from clinical echocardiog...

ea0039oc5.10 | Oral Communications 5 | BSPED2015

Pegvisomant treatment for X-linked acrogigantism syndrome

Coxson Edward , Iacovazzo Donato , Bunce Benjamin , Jose Sian , Ellard Sian , Sampson Julian , Korbonits Marta , Burren Christine

Introduction: Chromosome Xq26.3 microduplications have recently been identified, and explained this 11-year-old girl’s marked tall stature. Her severe phenotype illustrates X-linked acrogigantism (X-LAG) and demonstrates therapeutic benefit from growth hormone receptor blockade.Case: A 5.6-year-old girl presented with growth acceleration from 3 years and appearance of secondary dentition, greasy skin and blackheads from age 4. Past medical and famil...