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...

Background: Congenital central hypoventilation syndrome [CCHS] is a rare autosomal dominant condition due to mutations in the transcription factor PHOX2B. It is characterized by alveolar hypoventilation with symptoms of autonomic nervous system dysfunction. Hyperinsulinaemic hypoglycaemia (HH) due to glucose dysregulation caused by anomalous insulin secretion has been reported as a feature of CCHS. However, HH and glycaemic outcomes in the context of CCHS have ...

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...

Introduction: Ectopic posterior pituitary (EPP) is a neuroimaging diagnosis frequently identified together with other hypothalamo-pituitary (H-P) abnormalities [hypoplastic anterior pituitary and thin interrupted stalk -Pituitary Stalk Interruption Syndrome (PSIS)] and associated with variable endocrine phenotypes evolving over time. We aim to describe the spectrum of hormonal deficiencies and neuroimaging abnormalities in a large cohort of children with EPP.<p class="abst...

Background: Dominant inactivating mutations in the HNF4A gene have been associated with diazoxide-responsive hyperinsulinism (HI) during the neonatal period. However, there is limited literature reporting exceptional diazoxide sensitivity in neonates with HI due to novel HNF4A mutations. Objectives: To report on five neonates with HI due to HNF4A gene mutations who developed diazoxide-induced hyperglycemia and to explore phenotype-genotype correlatio...

Background: Lanreotide, a prolonged-release somatostatin analogue, has been used off-label for nearly a decade to treat congenital hyperinsulinism (CHI) cases resistant to diazoxide. Lanreotide’s side-effects include diarrhea, topical allergic reactions, hepatitis, gallstones, growth suppression, hypothyroidism, and gastrointestinal dysmotility. However, there are limited case reports documenting its safety in infants with CHI.Objective: To evaluate...