Endocrine Abstracts

Introduction: Bardet-Biedl syndrome (BBS) is a monogenic disease characterized by retinitis pigmentosa (>90%), obesity (72–86%), insulin resistant diabetes, and hypogonadism. Weight management is challenging due to frequent association of learning and visual impairment. At our BBS MDT clinic, dietetic review is provided at each visit. Dietetic input focuses primarily on reduced fat and sugar content in diet and exercise is encouraged. Individualised written dietary pl...

Background/hypothesis: Congenital hyperinsulinism in infancy (CHI) mainly arises from mutations in ATP-sensitive potassium channel genes. However, the expression pattern of defects can be markedly diverse. In diffuse CHI (CHI-D) all islet cells express gene defects, whereas patients with focal CHI (CHI-F) only express defects in a localised region of islet cells due to loss of a maternally-imprinted locus. Here, we examined the properties of a novel population of CHI islet cel...

Background: Recent consensus recommends assessment of aortic dimensions with aortic sized index (ASI) normalized for body surface area (BSA) defined as absolute aortic dimension/BSA, in girls with Turner syndrome (TS) as young as 10 years. There are currently multiple formulae for estimating BSA without agreement on a preferred method. We assess the clinical validity of each formulae as this may have implications on interpretation of ASI.Method: We calcu...

Background: In 2007, the Turner syndrome (TS) consensus study group developed an international guideline for clinical care of girls and women with TS. Given emerging concerns of long term cardiovascular complications, the consensus recommends that cardiac MRI should be performed when girls are old enough to tolerate the procedure or at the time of transition and to be repeated at least every 5–10 years.Method: We conducted a survey ...

Aims: To assess the relationship between thyroid peroxidase (TPO) antibodies and the development of thyroid disorders in children with type 1 diabetes mellitus (T1DM).Method: TPO antibody status and duration of diabetes at diagnosis of thyroid disorder were cross-sectionally examined in all children attending the Oxford T1DM service (n=342, male:female ratio 1:0.8).Results: Twenty patients were identified with thyroid como...

A 3-year-old boy born to non-consanguineous parents. He was diagnosed to have autism at 2 years of age. He had a history of pica. He was admitted with severe carpopedal spasms of hands and feet. Investigations revealed severe hypomagnesaemia, hypocalcaemia, hypokalaemia, hyponatremia, and moderately low vitamin D levels. Parathyroid hormone concentration was low. Urine analysis revealed loss of sodium, calcium, magnesium and sodium. Renal functions and renal ultrasound were no...