title: Familial glucocorticoid deficiency type 2 in two neonates.
abstract: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by glucocorticoid deficiency, elevated plasma adrenocorticotropic hormone (ACTH) levels and preserved aldosterone/renin secretion. Adrenocorticotropic receptor mutations occur in about 40% of patients (FGD type 1), whereas the rest of the cases are associated with a normal receptor (FGD type 2). More than 50 cases have been reported in the literature so far. We report two cases of type 2 FGD from two related families who presented in the newborn period with varying clinical features. Direct sequencing of the genomic DNA of the patients failed to reveal mutations or other defects in the coding sequence of the ACTH receptor. Linkage analysis excluded mutations on the MC2-R gene outside the coding region. To our knowledge, these are the first two cases of FGD reported from the Middle East.
authors.affiliation: Department of Neonatal Medicine and Surgery, Mafraq Hospital, Abu Dhabi, United Arab Emirates.
authors.forename: Pallath
authors.initials: P
authors.lastname: Ramachandran
authors.forename: Armelle
authors.initials: A
authors.lastname: Penhoat
authors.forename: Danielle
authors.initials: D
authors.lastname: Naville
authors.forename: Martine
authors.initials: M
authors.lastname: Begeot
authors.forename: Laila
authors.initials: L
authors.lastname: Osama Abdel-Wareth
authors.forename: Mohamad
authors.initials: M
authors.lastname: Reza Sedaghatian
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000097:blood; D003241:Consanguinity; D005808:Genes, Recessive; D005938:Glucocorticoids / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D017354:Point Mutation; D018043:Receptors, Corticotropin / Q000235:genetics; D044101:Receptors, Melanocortin
chemical_list: D005938:Glucocorticoids; D018043:Receptors, Corticotropin; D044101:Receptors, Melanocortin; D000324:Adrenocorticotropic Hormone