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An extremely rare missense mutation of the androgen receptor gene in a Vietnamese family with complete androgen insensitivity syndrome

Ha, Thi Minh Thi Le, Phan Tuong Quynh Le, Thanh Nha Uyen Hoang, Thi Thuy Yen 名古屋大学

2023.05

概要

Androgen insensitivity syndrome, OMIM# 300068, was first described as testicular feminization by Morris.1 It is characterized by resistance to androgen in 46,XY individuals.2 The
external genitalia of patients with androgen insensitivity syndrome vary from a normal female
form in complete androgen insensitivity syndrome (CAIS) to an undervirilized male form in
partial androgen insensitivity syndrome and a normal male form in mild androgen insensitivity
syndrome.3 The prevalence of CAIS is estimated to range from one in 20,400 to one in 99,100
individuals with a 46,XY karyotype.2 Primary amenorrhea in a phenotypic female adolescent
and inguinal hernia/swelling in a phenotypic female infant are typical scenarios in which CAIS
is diagnosed.4 Although CAIS patients have a female appearance with breast development and
complete female external genitalia, they have a 46,XY karyotype with the presence of the
SRY gene. The clinical presentation of CAIS results from a lack of masculinization caused by
ineffective androgen action due to receptor function loss.5 The androgen receptor is encoded by
the androgen receptor (AR) gene (OMIM# 313700), which is located on the X chromosome at
Xq12.2 Approximately 95% of CAIS patients have AR gene mutation.6 CAIS is thus an X-linked
recessive genetic disorder in which 70% of AR mutations are inherited and 30% are de novo.2
Several hundred AR mutations have been identified, and the number is steadily increasing. Since
2012, the Androgen Receptor Gene Mutations Database has added over 800 entries of mutations
causing androgen insensitivity syndrome, including over 500 different AR mutations. 7 To date,
the Human Gene Mutation Database includes more than 700 AR mutations, the vast majority of
which are missense and nonsense mutations.8 Thus, it is critical to detect AR gene mutations,
particularly rare or novel ones in diverse populations, and determine their association with the
CAIS phenotype. We present a Vietnamese family with several phenotypic females who have a
46,XY karyotype with an extremely rare AR gene mutation. ...

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参考文献

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References End

Nagoya J. Med. Sci. 85. 362–368, 2023

368

doi:10.18999/nagjms.85.2.362

...

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