Ann Pediatr Endocrinol Metab.  2018 Dec;23(4):220-225. 10.6065/apem.2018.23.4.220.

Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

Affiliations
  • 1Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea. jmko@snu.ac.kr
  • 2Research Coordination Center for Rare Diseases, Seoul National University Hospital, Seoul, Korea.
  • 3Department of Laboratory Medicine, Seoul National University Hospital, Seoul, Korea.

Abstract

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent Müllerian duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care.

Keyword

Androgen-insensitivity syndrome; Androgen receptors; Disorders of sexual development

MeSH Terms

Adolescent
Androgen-Insensitivity Syndrome*
Child
Disorders of Sex Development
Estrogen Replacement Therapy
Female*
Genitalia
Humans
Karyotype
Male
Mothers
Phenotype
Receptors, Androgen
Sex Differentiation
Siblings
Testis
Vagina
X Chromosome
Receptors, Androgen
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