Endocrine Abstracts

Background: Peutz Jegher’s syndrome is a rare condition with substantial cancer risk. Testicular cancer risk is 9%, the commonest being pre-pubertal large cell Sertoli cell tumour (LCST) which usually presents with bilateral gynecomastia. Here we present a case of Peutz Jegher’s syndrome with LCST who presented with unilateral gynecomastia.Case: A 5-year-old boy was referred to our endocrine service with unilateral gynecomastia. He had right si...

Introduction: Patients presenting with isodicentric chromosome Y (idicY) formation in a mosaic karyotype can present with phenotypic features ranging from mixed gonadal dysgenesis, to females with stigmata of Turner’s syndrome. The presence of the SRY gene increases the risk of germ-cell tumours.Case report: A 12-year-old prepubertal girl was referred for evaluation of extreme short stature (height 122 cm; −4.58 SDS; weight 26.7 kg; a...