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The rare form of congenital adrenal hyperplasia caused by an autosomal dominant form of STAR deficiency

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The steroidogenic acute regulatory protein (StAR) is crucial for transport of cholesterol to mitochondria where biosynthesis of steroids is initiated. Loss of StAR function due to autosomal-recessive mutations in the STAR gene leads to lipoid congenital adrenal hyperplasia (LCAH) which is characterized by impaired synthesis of adrenal and gonadal steroids, which causes adrenal insufficiency, primary ovarian failure in 46XX patients, or 46XY disorder of sex development (DSD). However, there were a few reports of 46 XY DSD patients with LCAH caused by a heterozygous mutation in the STAR gene. Here, we describe another rare case of LCAH in a 46XY patient with DSD and primary adrenal insufficiency due to an autosomal-dominant mutation in the STAR gene.

Natalia Y. Kalinchenko

Endocrinology Research Centre

Author for correspondence.
Email: kalinnat@rambler.ru
ORCID iD: 0000-0002-2000-7694
SPIN-code: 6727-9653

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036


Galina V. Chistousova

Perm Regional Children’s Clinical Hospital

Email: chistousova60@mail.ru
ORCID iD: 0000-0002-3136-1744

Russian Federation, 22, Baumana str., Perm, 614066


Vasily M. Petrov

Endocrinology Research Centre

Email: petrov.vasiliy@gmail.com
ORCID iD: 0000-0002-0520-9132
SPIN-code: 4358-2147

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036


Evgeny V. Vasiliev

Endocrinology Research Centre

Email: vas-evg@yandex.ru
ORCID iD: 0000-0003-1107-362X
SPIN-code: 5767-1569

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036


Anatoly N. Tiulpakov

Endocrinology Research Centre

Email: genes@endocrincentr.ru
ORCID iD: 0000-0001-8500-4841
SPIN-code: 8396-1798

Russian Federation, 11, Dm. Ulyanova street, Moscow, 117036


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  3. Bose HS, Sugawara T, Strauss JF 3rd, et al. The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. N Engl J Med. 1996;335(25):1870-1878. doi: 10.1056/NEJM199612193352503.
  4. Baquedano MS, Guercio G, Marino R, et al. Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia. J Clin Endocrinol Metab. 2013;98(1):E153-E161. doi: 10.1210/jc.2012-2865.

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Copyright (c) 2018 Kalinchenko N.Y., Chistousova G.V., Petrov V.M., Vasiliev E.V., Tiulpakov A.N.

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