Уважаемые пользователи!

Данный сайт содержит информацию для людей с медицинским образованием и специалистов здравоохранения.
Входя на сайт, Вы подтверждаете свое согласие с Условиями использования и Политикой конфиденциальности.



Dear visitor!
This site contains medical information for healthcare professionals.
You can go further, if you agree with Terms and Conditions and Privacy Policy on this site.

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

Cover Page
Open Access Open Access
Restricted Access Subscription Access

Abstract


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

MD

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

MD

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

PhD

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

PhD

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

MD, PhD

  • Speiser PW, White PC. Congenital adrenal hyperplasia. N Engl J Med. 2003;349(8):776-788. doi: 10.1056/NEJMra021561.
  • Lin D, Sugawara T, Strauss JF3rd, et al. Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis. Science. 1995;267(5205):1828-1831. doi: 10.1126/science.7892608.
  • 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.
  • 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.

Supplementary files

There are no supplementary files to display.

Views

Abstract - 229

PDF (Russian) - 5

Remote (Russian) - 76

PDF (English) - 0

Remote (Russian) - 0

PlumX


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

Creative Commons License
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.