Biju Jose

Can a baseline morning cortisol predict outcome of short Synacthen test in an endocrine unit in an outpatient setting

1 IOC Regulations on Female Hyperandrogenism (2012). Ref Type: Internet Communication: Available from: http://www.olympic. org/Documents/Commissions_PDFfiles/Medical_commission/201206-22-IOC-Regulations-on-Female-Hyperandrogenism-eng.pdf (accessed March 2014). 2 Turpeinen, U., Linko, S., Itkonen, O. et al. (2008) Determination of testosterone in serum by liquid chromatography-tandem mass spectrometry. Scandinavian Journal of Clinical and Laboratory Investigation, 68, 50–57. 3 Healy, M.L., Gibney, J., Pentecost, C. et al. (2014) Endocrine profiles in 693 elite athletes in the postcompetition setting. Clinical Endocrinology, 81, 294–305. 4 Bermon, S., Ritzen, M., Hirschberg, A.L. et al. (2013) Are the new policies on hyperandrogenism in elite female athletes really out of bounds? Response to “out of bounds? A critique of the new policies on hyperandrogenism in elite female athletes”. The American Journal of Bioethics, 13, 63–65. 5 Hopper, J.L., Green, R.M., Nowson, C.A. et al. (1998) Genetic, common environment, and individual specific components of variance for bone mineral density in 10to 26-year-old females: a twin study. American Journal of Epidemiology, 147, 17–29. 6 Arden, N.K. & Spector, T.D. (1997) Genetic influences on muscle strength, lean body mass, and bone mineral density: a twin study. Journal of Bone and Mineral Research, 12, 2076–2081. 7 Ferguson-Smith, M.A. & Bavington, L.D. (2014) Natural selection for genetic variants in sport: the role of Y chromosome genes in elite female athletes with 46. XY DSD. Sports Medicine, DOI: 10. 1007/s40279-014-0249-8. 8 Fenichel, P., Paris, F., Philibert, P. et al. (2013) Molecular diagnosis of 5alpha-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperandrogenism. Journal of Clinical Endocrinology and Metabolism, 98, E1055–E1059.

Lesson of the month 2: Autoimmune sequelae of anti-GAD antibodies – thinking outside the box

ABSTRACT A 52 year-old female with no significant medical problems presented with left-sided weakness, unsteady gait and speech disturbance. It was thought that she had neuro-inflammation and she remained clinically stable. Several years later, she was diagnosed with latent autoimmune diabetes of adulthood. Her neurological symptoms deteriorated and she was admitted into hospital. The cerebrospinal fluid was normal, as were an array of blood tests. Imaging tests, including magnetic resonance imaging, computerised tomography and positron emission tomography scans were normal. However, her anti-glutamic acid decarboxylase antibody serum level, which had been taken in the diabetes outpatient clinic, returned at 2,000,000 IU/mL (normal range 0–10). This led to the diagnosis of glutamic acid decarboxylase (GAD) positive cerebellar ataxia. She was treated with plasma exchange and intravenous immunoglobulins and over next 12 weeks her symptoms improved. Our case highlights the need for appropriate treatment of patients with GAD positive cerebellar ataxia to achieve good outcomes.