Endocrine Abstracts

Background: Fractures are reported in 1/3 of children who have been abused. The Royal College of Paediatrics and Child Health (RCPCH) recommends that assessment of fractures where there is suspicion of physical abuse should include bone biochemistry: calcium (Ca), phosphate (Ph), alkaline phosphatase (ALP), parathyroid hormone (PTH) and Vitamin D (VitD).Objectives: To describe the pattern of bone biochemistry in children with fractures when non-accidenta...

Background: There are limited data in paediatric population on the association between vitamin D deficiency/treatment and glucose/insulin metabolism.Objective and hypotheses: This study aimed to investigate the effect of vitamin D therapy on glucose homeostasis, insulin resistance and bone turnover, in children with vitamin D deficiency.Method: 22 children aged 3 months to 10 years (nine males) who were diagnosed with vitamin D def...

Introduction: Congenital nasal pyriform aperture stenosis (CNPAS) is an increasingly recognised cause of upper airway obstruction associated with holoprosencephaly, of which solitary median maxillary central incisor (SMMCI) is the least severe form. Studies have described pituitary abnormalities in up to 40%. We aimed to determine the use of baseline endocrine investigations and MRI brain in assessing endocrine dysfunction.Method: Retrospective casenote ...

Introduction: Hypophosphatasia is a very rare inherited condition due to ALPL variants and is associated with a variable presentation.Case description: The index case initially presented at 7 months with bulging anterior fontanelle, failure to thrive and mild developmental delay. She was born at 34 weeks gestation and had amniotic bands causing digital anomalies. She was sitting at 8 months, crawling by 15 months and a hearing test was normal. A...