Somatic mutations in the androgen receptor gene as the cause of androgen insensitivity syndrome

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Abstract


Androgen insensitivity syndrome is an X-linked disorder characterized by either complete or partial insensitivity of target tissues to androgens. This disease is caused by mutations in the AR gene located on the Х chromosome. Currently, there are no distinct clinical, biochemical, or hormonal markers that would allow one to differentiate androgen insensitivity syndrome from a number of other forms of 46,XY disorders of sex development. Therefore, final verification of this condition is based on the results of molecular genetic tests. Although more than 1,000 point mutations in the AR gene have been reported, somatic mutations in this gene have been described rather rarely. However, this very type of mutations makes the course of this disease difficult to predict, since various cells in the human body contain both normal and mutant receptors. Somatic mosaicism can cause spontaneous masculization during puberty in individuals born with a completely normal female phenotype. In this case report, we describe the phenotypic and molecular genetic characteristics of eight patients with various forms of androgen insensitivity syndrome caused by somatic mutations in the AR gene.


Natalia Yu. Kalinchenko

Endocrinology Research Center

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, PhD

Anna A. Kolodkina

Endocrinology Research Centre

Email: anna_kolodkina@mail.ru
ORCID iD: 0000-0001-7736-5372
SPIN-code: 6705-6630

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

PhD, MD

Vasiliy M. Petrov

Endocrinology Research Centre

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

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

PhD

Evgeniy 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, MD

Anatoly N. Tiulpakov

Endocrinology Research Centre

Email: anatolytiulpakov@gmail.com
ORCID iD: 0000-0001-8500-4841
SPIN-code: 8396-1798

Russian Federation, 11 Dm. Ulyanova street, 117036 Moscow

MD, PhD

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Copyright (c) 2019 Kalinchenko N.Y., Kolodkina A.A., Petrov V.M., Vasiliev E.V., Tiulpakov A.N.

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