Oral Presentation The Joint Annual Scientific Meetings of the Endocrine Society of Australia and the Society for Reproductive Biology 2017

Genetics for endocrinologists (#54)

Roderick Clifton-Bligh 1
  1. Royal North Shore Hospital, St Leonards, NSW, Australia

Heritable disorders are an important component of endocrinology practice. Timely recognition of an inherited form of endocrinopathy often changes therapeutic disposition for the individual patient, and clearly has important ramifications for counseling and screening of their family members. Genetic testing has been available for many years for Multiple Endocrine Neoplasia syndromes 1 and 2, Hereditary Phaeochromocytoma/Paraganglioma syndromes, heritable calcium disorders (Familial Hypocalciuric Hypercalcaemia, Autosomal Dominant Hypocalcaemia, Hyperparathyroidism-Jaw Tumour syndrome and Pseudohypoparathyroidism), heritable thyroid disorders (Resistance to Thyroid Hormones, and TSH receptor abnormalities) and Maturity-Onset Diabetes of the Young. The advent of pathology-accredited platforms for “next-generation” massively parallel sequencing is likely to transform our clinical practice, but also brings challenges – not least in disentangling the pathologic relevance of myriad Variants of Uncertain Clinical Significance. Familiarity in interpreting genetic test results should be a mandatory part of training in Endocrinology.