Volume 2015 Supplement 1

Abstracts from the 8th APPES Biennial Scientific Meeting

Open Access

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 and
  • Taninee Sahakitrungruang1
International Journal of Pediatric Endocrinology20152015(Suppl 1):O55

https://doi.org/10.1186/1687-9856-2015-S1-O55

Published: 28 April 2015

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.

Conclusion

StAR mutations may not be rare in Southeast Asian population. There is a broad clinical spectrum of StAR 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’ Affiliations

(1)
Chulalongkorn University
(2)
Prince of Songkla University
(3)
KTP- National University Children's Medical Institute, National University Hospital
(4)
Siriraj Hospital, Mahidol University
(5)
Queen Sirikit National Institute of Child Health

Copyright

© Ariyawatkul et al; licensee BioMed Central Ltd. 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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