Searchable abstracts of presentations at key conferences in endocrinology

ea0051p068 | Diabetes | BSPED2017

Review of diabetes antibody profile in children and young people with diabetes

Thanawala Nehal , Sundaram Premkumar , Tziaferi Vaitsa , Greening James

Aim: Previous studies have shown that diabetes associated antibodies are present in 85–90% of patients with Type 1 diabetes. NICE guidelines do not suggest routine use of antibodies screening at initial presentation. The aim of our study was to identify the incidence of antibody positivity in our centre and also review the clinical profile of children diagnosed with diabetes who were antibodies negative.Method: Retrospective case notes review of 243...

ea0051p073 | Diabetes | BSPED2017

Safeguarding intervention and resolution of type 2 diabetes mellitus

Kapoor Sonal , Tziaferi Vaitsa , Sundaram Prem , Greening James

Introduction: Research has shown that Type 2 diabetes can be reversed in early stages if diet control is exercised. We present herewith a case of a 13-year old girl with Type 2 diabetes with a background of brain tumour, epilepsy and learning difficulties. Due to wider psychosocial issues the patient was placed in foster care. Adherence to healthy lifestyle principles led to weight loss and subsequent resolution of the Diabetes.Case report: A 5-year-old ...

ea0027p53 | (1) | BSPED2011

An unusual case of type 1 diabetes mellitus and autoimmune limbic encephalitis

Tziaferi Vaitsa , Ng Joanne , Peters Catherine J , Carr Lucinda

Introduction: T1DM is an autoimmune condition. At diagnosis, 80% of patients have positive glutamic-acid decarboxylase antibodies (GADA). We report a case of T1DM diagnosed 1 year after the onset of autoimmune limbic encephalitis (LE).Case: A 13-year-old female was diagnosed with voltage-gated-potassium channel (VGKC) positive LE after presenting with complex partial seizures and auditory hallucinations. A year later and prior to the diagnosis of diabete...

ea0027p24 | (1) | BSPED2011

A case of familial isolated hypogonadotrophic hypogonadism due to FGFR1 G687R mutation

Tziaferi Vaitsa , Spoudeas Helen , McCabe Mark , Gregory Louise , Dattani Mehul T

Introduction: Hypogonadotrophic hypogonadism (HH) is a genetically heterogeneous disorder. A number of genes have been implicated in its pathogenesis but, to date, in most cases, the cause remains genetically unknown.Case: A 14-year old male with delayed puberty (G1P2A3, testes two males) and family history of HH was diagnosed with HH following anterior pituitary assessment and an overnight gonadotrophin profile. His baseline gonadotrophins were low (LH,...

ea0025oc5.3 | Reproduction and fetal programming | SFEBES2011

Mutations in the gene encoding the fibroblast growth factor 8 (FGF8) are associated with complex midline defects including recessive holoprosencephaly and hypothalamo-pituitary dysfunction

McCabe Mark , Gaston-Massuet Carles , Tziaferi Vaitsa , Gregory Louise , Alatzoglou Kyriaki , Signore Massimo , Farooqi Sadaf , Raza Jamal , Walker Joanna , Kavanaugh Scott , Tsai Pei-San , Pitteloud Nelly , Martinez-Barbera Juan-Pedro , Dattani Mehul

Loss-of-function mutations in FGF8 in humans have been associated with Kallmann syndrome (KS), which is characterised by the combination of hypogonadotrophic hypogonadism with anosmia, suggesting that FGF8 is critical for GnRH neuronal development. Interestingly, hypomorphic Fgf8 mutant mice demonstrate poor telencephalic development with deletions of midbrain tissue, absence of olfactory bulbs and optic chiasm, and holoprosencephaly (HPE) with an abnormal corpus...