Familial glucocorticoid deficiency type 2 in two neonates.
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.
Ramachandran
Pallath
P
Department of Neonatal Medicine and Surgery, Mafraq Hospital, Abu Dhabi, United Arab Emirates.
Penhoat
Armelle
A
Naville
Danielle
D
Begeot
Martine
M
Osama Abdel-Wareth
Laila
L
Reza Sedaghatian
Mohamad
M
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
D005938:Glucocorticoids; D018043:Receptors, Corticotropin; D044101:Receptors, Melanocortin; D000324:Adrenocorticotropic Hormone