ESPE Abstracts

Introduction: Hypophosphatasia is a rare genetic disorder characterized by impaired mineralization (“calcification”) of bones and teeth. However, there is variable presentation from asymptomatic to severe presentation.Case: Seven-Year-old boy presented at age of 2 weeks with excessive crying. On evaluation he was found to have low Alkaline Phosphatase (ALP) level. The parents are consanguineous with negative ...

Case 1: Twelve-year-old girl, presented with symptomatic hypoglycemia at the age of four. At six, she has type 1 diabetes mellitus (T1DM) started on insulin pump with excellent glycemic control. Genetic testing sent suspected MODY, revealed heterozygous variant in WFS1 gene, representing autosomal dominance inheritance. She screened for WFS associated disorder; negative.Case 2: Eighteen-year-old male with T1DM on insulin...