Endocrine Abstracts

Background: McCune Albright Syndrome (MAS) is a rare mosaic disease caused by activating mutation in GNAS, characterized by bone fibrous dysplasia, café au- lait (CAL) and hyper functional endocrinopathies (1). GIPP is the most common endocrinologic manifestation seen more frequently in girls (2). In a few studies, letrozole, tamoxifen, or fulvestrant were effective in decreasing the rate of skeletal maturation and vaginal bleeding (3,4,5).Case Repo...

Introduction: Post-prandial hyerinsulinaemic hypoglycaemia (PPHH) or dumping is a recognized complication of various gastric surgeries. There are very few paediatric case reports to confirm PPHH post esophageal repair. We here report two cases who presented with dumping syndrome after a variable time period post esophageal atresia repair and response to medications.Case 1: A 6 month old female diagnosed with Wolf-Hirschhorn syndrome, born at 38+3 weeks b...

Introduction The endocrine assessment of children with Duchenne muscular dystrophy (DMD) can be necessary for management of osteoporosis, delayed puberty, obesity, adrenal insufficiency, and short stature. With ongoing implementation of the international standards of care for DMD, referrals to our Metabolic Bone Clinic (MBC) increased beyond its capacity, impacting patient care. The neuromuscular and endocrine departments implemented a new referral pathway and Multidis...