Ann Pediatr Endocrinol Metab.  2013 Mar;18(1):40-43. 10.6065/apem.2013.18.1.40.

p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia

• Park HW
• Kwak BO
• Kim GH
• Yoo HW
• Chung S

• KMID: 1429683
• DOI: http://doi.org/10.6065/apem.2013.18.1.40

Abstract

Congenital lipoid adrenal hyperplasia (CLAH) is the most severe form of congenital adrenal hyperplasia which is caused by mutations in the steroidogenic acute regulatory protein (StAR). The mutations in StAR gene resulted in failure of the transport cholesterol into mitochondria for steroidogenesis in the adrenal gland. Twin sisters (A, B) with normal 46, XX were born at 36+2 gestational week, premature to nonrelated parents. They had symptoms as hyperpigmentation, slightly elevated potassium level and low level of sodium. Laboratory finding revealed normal 17-hydroxyprogesterone level, elevated adrenocorticotropin hormone (A, 4,379.2 pg/mL; B, 11,616.1 pg/mL), and high plasma renin activity (A, 49.02 ng/mL/hr; B, 52.7 ng mL/hr). However, the level of plasma cortisol before treatment was low (1.5 microg/dL) in patient B but normal (8.71 microg/dL) in patient A. Among them, only patient A was presented with adrenal insufficiency symptoms which was suggestive of CLAH and prompted us to order a gene analysis in both twin. The results of gene analysis of StAR in twin revealed same heterozygous conditions for c.544C>T (Arg182Cys) in exon 5 and c.722C>T (Gln258*) in exon 7. We report the first case on the mutation of p.R182C in exon 5 of the StAR gene in Korea.

Keyword

Lipoid congenital adrenal hyperplasia; Twins; Steroidogenic acute regulatory protein

MeSH Terms

17-alpha-Hydroxyprogesterone
46, XY Disorders of Sex Development
Adrenal Glands
Adrenal Hyperplasia, Congenital
Adrenal Insufficiency
Adrenocorticotropic Hormone
Cholesterol
Exons
Genes, vif
Humans
Hydrocortisone
Hyperpigmentation
Hyperplasia
Korea
Mitochondria
Parents
Phosphoproteins
Plasma
Potassium
Renin
Siblings
Sodium
Twins
17-alpha-Hydroxyprogesterone
46, XY Disorders of Sex Development
Adrenal Hyperplasia, Congenital
Adrenocorticotropic Hormone
Cholesterol
Hydrocortisone
Phosphoproteins
Potassium
Renin
Sodium

Figure

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  Fig. 1 Electrophoretogram of exon 5 and 7 dye terminator sequencing in gene of the steroidogenic acute regulatory protein (StAR). The results of gene analysis of StAR in twin revealed same heterozygous mutations of StAR gene. (A) A C->T transition mutation at StAR cDNA nucleotide position 544 (Arg182Cys) in exon 5. (B) A C->T transition mutation at StAR cDNA nucleotide position 722 (Gln258*) in exon 7.

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