ESPE Abstracts

Background: Mixed gonadal dysgenesis is most commonly associated with 45,XO/46,XY karyotype.Objective and hypotheses: We report three cases that illustrate the genotype and phenotype variability of mixed gonadal dysgenesis.Methods: Data was extracted from Pediatric Endocrinology charts in a tertiary care centre after consenting the parents.Results: i) A 13 year old patient, 45,XO/46,X, isodicentric Y chromoso...

Introduction: A 23-month-old male was admitted for evaluation of an enlarging neck mass, persistent rash, and periorbital edema.Case Description: The toddler had a strikingly large neck mass which had rapidly progressed over 1 month. He presented with a pustular and petechial rash primarily on his scalp which had been unresponsive to multiple treatment modalities. Initial work-up for his neck mass revealed a TSH of 19.7m...

Background: Avascular necrosis (AVN) is common in Sickle Cell Disease (SCD), frequently involving the femoral and humeral head and less commonly involving the spine. AVN leads to joint collapse, chronic pain and disability, and often requires joint replacement in early adulthood. There are no medical therapies for AVN in SCD despite the high burden of disease and there are no published reports of bisphosphonate therapy in this condition....