hrp0082p3-d1-625 | Adrenals & HP Axis | ESPE2014

A Pediatric Case of Cushing’s Disease Presenting with Diabetic Ketoacidosis

Catli Gonul , Tanrisever Ozgur , Sule Can P , Nuri Dundar Bumin

Background: Cushing syndrome is very rare in childhood and adolescence and often occurs with iatrogenic causes. The major cause of endogenous Cushing syndrome is CushingÂ’s disease, which results due to excessive ACTH secretion from pituitary cells (corticotroph adenoma).Objective and hypothesis: Cushing syndrome cases, which presented with diabetic ketoacidosis (DKA) in adulthood have been rarely reported. However, to our knowledge, there is no repo...

hrp0097rfc14.1 | Late Breaking | ESPE2023

Clinical characteristics of patients presented with primary adrenal insufficiency due to a p.R451W mutation in the CYP11A1 gene

Çayır Atilla , Demirbilek Huseyin , Nuri Ozbek Mehmet , Kurt lknur , Karaoglan Murat , Albayrak Serpil , Nuri Dundar Bumin , Guran Tulay

Background and objective: The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnanolone which is catalyzed by the P450scc side chain cleavage enzyme (encoded by CYP11A1 gene-SCC). Homozygous recessive mutations of the CYP11A1 gene cause a global steroid hormone deficiency thereby disorders of sexual development in 46, XY individuals with a variable phenotype depending on the mutation characteristics. About 60 cases of SCC...