title: Familial glucocorticoid deficiency type 2: a case report.
abstract: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease resulting from resistance to the action of adrenocorticotropic hormone (ACTH) on the adrenal cortex, which leads to isolated glucocorticoid deficiency with normal mineralocorticoid secretion. It may present in infancy or early childhood with hyperpigmentation, failure to thrive, recurrent infections, hypoglycemic attacks and convulsions that may result in coma or death. Laboratory investigations reveal low cortisol and androgen levels with high ACTH associated with normal reninaldosterone axis. The disorder may be caused by mutations in the gene of ACTH receptor (MC2R), or mutations in the newly described melanocortin- 2 receptor accessory protein (MRAP) namely, FGD type 1 and FGD type 2, respectively. Twenty five percent of FGD cases are due to the mutations of the ACTH receptor, while FGD type 2 accounts for approximately 15-20% of FGD cases. Here, we report a six-month-old male infant, who presented with recurrent hypoglycemic convulsions. Serum hormone analysis showed low cortisol and androgen levels associated with a high ACTH concentration. No mutation was found in the NR0B1 and MC2R genes excluding congenital adrenal hypoplasia and FGD type 1. We found a homozygous deletion (c. 106+1delG) in intron 3 of MRAP gene. To our knowledge, this is the first Turkish patient reported with FGD type 2 due to a known MRAP mutation.
authors.affiliation: Erciyes University, Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey. leylabakin@gmail.com
authors.forename: Leyla
authors.initials: L
authors.lastname: Akın
authors.forename: Selim
authors.initials: S
authors.lastname: Kurtoğlu
authors.forename: Mustafa
authors.initials: M
authors.lastname: Kendirici
authors.forename: Mustafa Ali
authors.initials: MA
authors.lastname: Akın
mesh_terms: D000324:Adrenocorticotropic Hormone / Q000097:blood; D017353:Gene Deletion; D005938:Glucocorticoids / Q000378:metabolism*; D006801:Humans; D007003:Hypoglycemia / Q000150:complications / Q000209:etiology; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000097:blood / Q000235:genetics / Q000378:metabolism*; D016133:Polymerase Chain Reaction; D012640:Seizures / Q000150:complications; D014421:Turkey
chemical_list: D005938:Glucocorticoids; C458099:MRAP protein, human; D008565:Membrane Proteins; D000324:Adrenocorticotropic Hormone