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ea0017oc15 | Diabetes 2 | BSPED2008

Extreme insulin resistance due to an insulin receptor mutation presenting as premature adrenarche evolving to polycystic ovarian syndrome in a non-obese girl

Wei C , Halsall DJ , O'Rahilly S , Semple R , Burren C

We report a non-obese 14-year old white female who initially presented to the paediatric endocrine service aged 7 years with adrenarche. She was born small for gestational age (2nd centile) but was otherwise developmentally normal with no significant past medical history. There was maternal history of polycystic ovarian syndrome (PCOS) but no family history of type 2 diabetes (T2DM). A GnRH test showed a pre-pubertal response and she was discharged after 1 year of follow-up wi...

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ea0011p162 | Clinical case reports | ECE2006

False positive newborn screen for congenital hypothyroidism due to a TSH-IgG (macro-TSH) complex

Halsall DJ , Hall SK , Barker P , Anderson J , Fahie-Wilson M , Gama R , Chatterjee VK

We report a falsely elevated blood spot thyrotrophin (TSH) concentration caused by a TSH-IgG complex. A routine blood spot screen returned a whole blood TSH of 213 mU/l from a one week-old neonate using the Wallac DELFIA method. Measurement in serum confirmed elevated TSH (826 mU/l, Roche Elecsys assay) but free thyroxine (17.2 pmol/l) was normal. The babys mother was clinically euthyroid but also showed discordant high serum TSH (287 mU/l) with normal free thyroxine (13...

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Endocrine Abstracts

Extreme insulin resistance due to an insulin receptor mutation presenting as premature adrenarche evolving to polycystic ovarian syndrome in a non-obese girl

False positive newborn screen for congenital hypothyroidism due to a TSH-IgG (macro-TSH) complex

BiosciAbstracts