Endocrine Abstracts

Albright hereditary osteodystrophy-like (AHO-like) syndrome is a rare syndrome characterized by features including distinctive dysmorphism, developmental delay and short stature. The 2q37 locus is the commonly deleted subtelomeric region. Individuals may have either pseudohypoparathyroidism (PHP), with end organ resistance to PTH and certain other cAMP dependent hormones, or pseudopseudohypoparathyroidism (PPHP) with normal hormone responsiveness.Autoimm...

Diabetic ketoacidosis (DKA) is a common medical emergency in children. Altered consciousness in the form of mild disorientation or confusion can occur but frank coma is uncommon.1 We present a case of a newly diagnosed Type 1 diabetes mellitus who presented in DKA and with glasgow coma scale (GCS) of seven. She developed decorticate posturing soon after she was commenced on resuscitation fluids.Case: A previously well 15-year-old girl was rush...

We present the data from cases of hyperinsulinemia that were seen and diagnosed in a district general hospital over a five year period. The cohort included babies with congenital hyperinsulinism (CHI). In the paediatric age group, several were associated with obesity (insulin resistance) group and there was a case on insulinoma....

Hypopituitarism is a condition of inadequate or absent production of the anterior pituitary hormones (http://emedicine.medscape.com/article/923789-overview). We report a case of newborn with hypocortisolaemia in whom starting hydrocortisone unveiled diabetes insipidus and panhypopituitarism.Case presentation: A term baby girl born by normal delivery to Caucasian parents presented with po...

Background: Congenital hyperinsulinism (CHI) is the result of unregulated insulin secretion from the pancreatic β-cells leading to severe hypoglycaemia.1 Diazoxide is effective in virtually all forms of CHI except in those due to recessive (and some dominant) inactivating mutations in ABCC8 and KCNJ11 and in patients with focal CHI.2 We report a case of CHI with acute kidney injury secondary to diazoxide.Case ...