Clinical and mutational spectrum of patients with congenital lipoid adrenal hyperplasia in Southeast Asia
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ORAL PRESENTATION
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Clinical and mutational spectrum of patients with congenital lipoid adrenal hyperplasia in Southeast Asia Kansuda Ariyawatkul1*, Patra Yeetong1, Somchit Jaruratanasirikul2, Kah Yin Loke3, Pairunyar Nakavachara4, Chawkaew Kongkanka5, Taninee Sahakitrungruang1 From 8th APPES Biennial Scientific Meeting Darwin, Australia. 29 October – 1 November 2014 Aims Mutations in Steroidogenic Acute Regulatory protein (StAR) cause congenital lipoid adrenal hyperplasia (lipoid CAH), characterized by absent steroidogenesis, potentially lethal salt loss, 46,XY sex reversal and massively enlarged adrenals engorged with cholesterol esters. Nonclassic lipoid CAH is a recently recognized disorder caused by StAR mutations that retain partial function. We aim to delineate the clinical and mutational spectrum of StAR mutations in patients with lipoid CAH. Methods The entire coding regions of the StAR gene were assessed by polymerase chain reaction and sequencing analysis. Results There were 10 patients of lipoid CAH had mutations in the StAR gene with 5 novel mutations (p.P230L>WfsX, IVS6-1G>A, IVS3+(2-3)insT, p.W147R, p.Q264R). Eight patients had classic lipoid CAH presenting with adrenal crisis during early infancy (range of onset 3-11 months of age). Two siblings had nonclassic phenotypes with later onset adrenal insufficiency without disordered sex development. Adrenal enlargement by imaging was demonstrated in only 3 cases of classic lipoid CAH. The functional studies of novel StAR mutations are being under investigation.
mutations varying from early onset adrenal insufficiency to late onset of glucocorticoid deficiency with only mild defects in mineralocorticoid and sex steroid synthesis. Adrenal gland enlargement is not pathognomonic for lipoid CAH. Authors’ details 1 Chulalongkorn University, Bangkok, Thailand. 2Prince of Songkla University, Songkhla, Thailand. 3KTP- National University Children’s Medical Institute, National University Hospital, Singapore. 4Siriraj Hospital, Mahidol University, Bangkok, Thailand. 5Queen Sirikit National Institute of Child Health, Bangkok, Thailand. Published: 28 April 2015
doi:10.1186/1687-9856-2015-S1-O55 Cite this article as: Ariyawatkul et al.: Clinical and mutational spectrum of patients with congenital lipoid adrenal hyperplasia in Southeast Asia. International Journal of Pediatric Endocrinology 2015 2015(Suppl 1):O55.
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Conclusion StAR mutations may not be rare in Southeast Asian population. There is a broad clinical spectrum of StAR 1
Chulalongkorn University, Bangkok, Thailand Full list of author information is available at the end of the article
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