Endocrine Abstracts

Introduction: 11-beta-dehydroxysteroid dehydrogenase-1 (11BHSD1) is a bidirectional enzyme which converts inactive cortisone and 11-dehydrocorticosterone to active cortisol and corticosterone and vice-versa. The direction is dependent on NADPH availability and the action of the cofactor enzyme hexose-6-phosphate dehydrogenase (H6PDH). Cortisone reductase deficiency is a rare disorder caused by defects in 11BHSD1 or H6PDH, leading to inability to regenerate act...

Introduction: Congenital hyperinsulinism (CHI) is a rare disease characterized by an unregulated insulin release, leading to hypoglycaemia. It is the most frequent cause of persistent and severe hypoglycaemia in the neonatal period and early childhood. FOXA2, a beta-cell transcription factor is localized at the cytogenetic location 20p11.2 and is critical for the development of pancreas and pituitary gland. We describe a child with 20p11.21 deletion e...

A 11-year 10-month boy born of non-consanguineous marriage presented with recurrent oral and respiratory tract infections and failure to thrive from the age of one year. He was born at term with a birth weight of 3.5 kg with an uneventful perinatal period. The parents noticed recurrent oral infections with the whitish curd-like layer deposited over the oral mucosa. They also complained of gradual skin darkening, easy fatiguability, and growth failure over the last three years....