Searchable abstracts of presentations at key conferences in endocrinology

ea0051p035 | Miscellaneous/other | BSPED2017

Post-prandial hyerinsulinaemic hypoglycaemia post-esophageal surgery in children

Malhotra Neha , Dastamani Antonia , Guemes Maria , Gilbert Clare , Ress Clare , Dattani Mehul , Shah Pratik

Introduction: Post-prandial hyerinsulinaemic hypoglycaemia (PPHH) or dumping is a recognized complication of various gastric surgeries. There are very few paediatric case reports to confirm PPHH post esophageal repair. We here report two cases who presented with dumping syndrome after a variable time period post esophageal atresia repair and response to medications.Case 1: A 6 month old female diagnosed with Wolf-Hirschhorn syndrome, born at 38+3 weeks b...

ea0051p039 | Pituitary and growth | BSPED2017

Can the TSH index be used as a predictor of central hypothyroidism in children?

Monti Elena , Stroek Kevin , Morandi Grazia , Improda Nicola , Rapti Elena , Mattone Maria Celeste , Dattani Mehul

Introduction: Central hypothyroidism (CeH) is diagnosed when low thyrotropin (TSH) is associated with a free thyroxine (fT4) below the normal range. Jostel proposed a ’fT4-adjusted TSH’ (TSH index: TSHI = log TSH +0.1345 · fT4.), to estimate the degree of pituitary dysfunction (Jostel et al. Clin End 2009).Methods: Retrospective analysis of patients investigated for pituitary hormone deficiencies (n=276; M:F 166:...

ea0085p41 | Pituitary and Growth 1 | BSPED2022

Use of the U.K. 100,000 genomes project to identify the genetic basis of childhood pituitary disorders within a tertiary paediatric endocrinology centre

McGlacken-Byrne Sinead , Gregory Louise , Roberts Rowenna , Clements Emma , Wakeling Emma , Katugampola Harshini , Dattani Mehul

Introduction: The UK 100,000 Genomes Project (100KGP) investigated the genetic basis of rare disease. The molecular drivers of most paediatric pituitary disease remains unknown.Methods: Children with genetically unexplained pituitary disorders attending a tertiary paediatric endocrinology centre were recruited to the 100KGP and underwent whole genome sequencing. Parental DNA was obtained where feasible. Virtual gene panels were applied and bioinformatic ...

ea0065oc2.5 | Neuroendocrinology, Pituitary and Neoplasia | SFEBES2019

Efnb2 controls pituitary gland development by regulating proliferation of the pituitary stem/progenitor cells and EMT within the pituitary stem cell niche

Gualtieri Angelica , Nicholson James , Tan Rachael , Jimenez Fernando , Dattani Mehul , Guasti Leonardo , Gaston-Massuet Carles

Efnb2 encodes for the ligand Ephrinb2 that binds to its cognate Eph receptor, with which plays an integral role in angiogenesis, stem cell regulation and tumorigenesis. Using a pituitary-specific Cre-driver (Hesx1Cre), we conditionally deleted Efnb2 from the early stem/progenitor cells (PSCs) of the developing pituitary gland. We found that Efnb2 is expressed in PSCs both during embryogenesis and adulthood, suggesting its...

ea0066oc5.1 | Oral Communications 5 | BSPED2019

Project to develop BSPED UK standardised guidelines for sex hormone priming and glucagon stimulation testing (GST) in children and adolescents

Wei Christina , Musson Pauline , Clayton Peter , Dattani Mehul , Randell Tabitha , Crowne Elizabeth C

Background: The GST is commonly used in children and adolescents for the diagnosis of growth hormone (GH) deficiency. Evidence supports the use of sex steroid priming to improve diagnostic accuracy in GH provocation tests. This project, undertaken on behalf of the BSPED Clinical Committee, aims to identify current practice and develop consensus in sex hormone priming and GST protocols for the development of standardised UK protocols.Method: (1) Audit of ...

ea0048o3 | Oral Communications | SFEEU2017

Compensated hyperthyrotropinaemia due to partial loss-of-function mutation in TSH receptor gene

McGowan Anne , Moran Carla , Vanderpump Mark , Dattani Mehul , Chatterjee Krishna , Schoenmakers Nadia

Case history: A clinically euthyroid 7-year-old boy was noted to have a persistently elevated TSH 7.35–14 mU/l (NR 0.27–4.2) and normal FT4 15.0 pmol/l (NR 10-24) with negative anti-thyroid peroxidase antibodies. Thyroid ultrasonography revealed a eutopically-located thyroid gland of normal size. Following commencement of levothyroxine, he developed insomnia, irritability and headaches, resulting in cessation of treatment. Growth and development proceeded ...

ea0036P5 | (1) | BSPED2014

Cerebral oedema: a rare presentation of Addison's disease

Besser Rachel E J , Amores Irene , Inwald David , Dattani Mehul T

Introduction: Cerebral oedema has rarely been reported in adrenal insufficiency. We report a case of decompensated cerebral oedema due to autoimmune adrenalitis.Case report: A 12-year-old boy presented to hospital with a 1 day history of headache, fever up to 39.9 °C, confusion, diarrhoea, and vomiting. He had a left-sided ptosis, reduced conscious level (Glasgow coma scale 8/15) and was hypertensive (blood pressure 134/90 mmHg). He required intubat...

ea0036P65 | (1) | BSPED2014

A heterozygous STAT5B variant in a family with short stature and transient hyperprolactinaemia: a possible dominant negative effect

Pease-Gevers Evelien , Kowalczyk Julia , Storr Helen , Metherell Lou , Dattani Mehul

The index case, born to non-consanguineous British parents, was born with a normal birth weight. He grew along the −2.9 S.D. centile from the age of 2 years. Eczema was diagnosed at the age of 2 weeks. Investigations at 3–4 years of age showed: IGF1<25 ng/ml, IGFBP3 1.29 (N 0.8–3.9), prolactin 265–653 mU/l (N 59–271), GH peak (glucagon test) 17.3 ug/l, normal GH peaks on overnight sampling, and an IGF1<25 ng/ml...

ea0036P83 | (1) | BSPED2014

Congenital central hypothyroidism due to a TSHB mutation with uniparental inheritance

Nicholas Adeline K , Jaleel Safia , Schoenmakers Erik , Dattani Mehul , Roche Edna , Chatterjee V Krishna , Schoenmakers Nadia

Introduction: Biallelic mutations in the TSHB gene are a recognized cause of isolated congenital central hypothyroidism (CH), with autosomal recessive inheritance. In countries where neonatal CH screening relies on detection of an elevated TSH, such cases are missed, with the potential for delayed diagnosis and subsequent developmental impairment.Case: A female infant presented aged 8 weeks with prolonged jaundice, poor weight gain, constipation...

ea0034oc5.3 | Pituitary | SFEBES2014

The Wnt/β-catenin effector Tcf3/TCF7L1 is required for normal hypothalamic--pituitary development and mutation in this gene are associated to congenital hypopituitarism

Gaston-Massuet Carles , McCabe Mark , Dattani Mehul , Martinez-Barbera J P

Aberrant development of the pituitary gland can result in the clinical manifestation of hypopituitarism. The Wnt/β-catenin pathway has been shown to be involved in normal organogenesis, terminal differentiation and the aetiology of pituitary tumours. However, the specific developmental roles during hypothalamic–pituitary development of some of the Wnt/β-catenin effectors, such as Tcf3, have been hampered due to the early lethality of null embryos for th...