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Turkish Society for Pediatric Endocrinology and Diabetes
Familial Glucocorticoid Deficiency Type 2: A Case Report [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2010; 2(3): 122-125 | DOI: 10.4274/jcrpe.v2i3.122

Familial Glucocorticoid Deficiency Type 2: A Case Report

Leyla Akın1, Selim Kurtoğlu2, Mustafa Kendirici2, Mustafa Ali Akın3
1Erciyes University Faculty of Medicine, Department of Pediatric Endocrinology, Kayseri, Turkey
2Erciyes University, Faculty Of Medicine Department Of Pediatric Endocrinology, Kayseri, Turkey
3Erciyes University, Faculty Of Medicine Department Of Neonatology, Kayseri, Turkey

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 renin-aldosterone 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.

Keywords: Familial glucocorticoid deficiency,ACTH unresponsiveness,MRAP

Leyla Akın, Selim Kurtoğlu, Mustafa Kendirici, Mustafa Ali Akın. Familial Glucocorticoid Deficiency Type 2: A Case Report. J Clin Res Pediatr Endocrinol. 2010; 2(3): 122-125
Manuscript Language: English
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