Obstet Gynecol Sci.  2015 Mar;58(2):179-182. 10.5468/ogs.2015.58.2.179.

Polycystic ovary syndrome woman with heterozygous androgen receptor gene mutation who gave birth to a child with androgen insensitivity syndrome

• Nam H
• Kim CH
• Cha MY
• Kim JM
• Kang BM
• Yoo HW

• KMID: 2314044
• DOI: http://doi.org/10.5468/ogs.2015.58.2.179

Abstract

Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders in women of reproductive age, and it is a multifactorial polygenic disorder with a broad spectrum of clinical manifestations. Although pathogenesis is still unclear, androgen receptor (AR) gene polymorphism may be one of the etiologic factors of PCOS. AR gene polymorphism has been also associated with other forms of androgen pattern diseases. We report a PCOS woman with heterozygous AR gene mutation who gave birth to a baby with andorgen insensitivity syndrome.

Keyword

Androgen-insensitivity syndrome; Androgen receptor gene polymorphism; Polycystic ovary syndrome

MeSH Terms

Androgen-Insensitivity Syndrome*
Child*
Female
Humans
Male
Parturition*
Polycystic Ovary Syndrome*
Receptors, Androgen*
Receptors, Androgen

Figure

• 

  Fig. 1 (A) Scrotal ultrasonography performed in an androgen insensitivity syndrome baby reveals a left testis in left inguinal canal. (B) The uterus, vagina and ovaries are not shown in the abdomino-pelvic computed tomography in an androgen insensitivity syndrome baby.

• 

  Fig. 2 (A) Partial sequencing for eight exons and their exon-intron boundaries of AR of an androgen insensitivity syndrome baby shows c.2482T>C (p.Phe828Leu) mutation on exon 7. (B) Partial sequencing for AR of polycystic ovary syndrome mother of an andorgen insensitivity syndrome baby reveals heterozygous c.2482T>C (p.Phe828Leu) mutation on exon 7. In the electrogram, Y means coexistance of C base and T base as heterozygote. seq, sequence; AR,androgen receptor.

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