Endocrine Abstracts

Introduction: We present an unusual case of pituitary hyperplasia in primary hypothyroidism in a 4-year-old female in whom timely diagnosis averted invasive tests.Case Presentation: A 4.7year old female presented with long-standing facial asymmetry. Born at term with an uneventful pregnancy, medical history and normal neonatal TSH blood spot screen. There were no symptoms of hypothyroidism. Height was 101.1 cm (-1.4SD), BMI 19.7 kg/m2 (2.5SD) and she was...

We present the first paediatric patient treated with Asfotase Alfa (AA) or ‘Strensiq’, for perinatal Hypophosphatasia (HPP), who has turned 16 and approaches the end of her time in paediatric care. She is the child with the longest treatment duration worldwide. We reflect on the 16 years of learning she has provided for endocrinologists globally. HPP is a rare, inherited, metabolic bone disease, characterised by defective bone and teeth mineralisation. It is caused b...