Endocrine Abstracts

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...

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 ...

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...

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,...

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...