Complete androgen insensitivity syndrome with accelerated onset of puberty due to a sertoli cell tumor

Masako Izawa, Eiji Hisamatsu, Kaoru Yoshino, Makiko Yoshida, Takeshi Sato, Satoshi Narumi, Tomonobu Hasegawa, Takashi Hamajima

Research output: Contribution to journalArticlepeer-review


Complete androgen insensitivity syndrome (CAIS) is caused by mutations in the androgen receptor gene. Patients with this syndrome have a 46,XY karyotype, male gonads, and normal female external genitalia. While the pre-pubertal risk of developing gonadal tumors is low in these patients, it increases with age. Most gonadal tumors arise from germ cells; stromal cell tumors are uncommon. Herein, we report a CAIS patient with a feminizing Sertoli cell tumor. The patient presented at 8 yr of age with breast enlargement and growth acceleration, concomitant with elevated serum estradiol levels and suppressed serum gonadotropin levels; these findings were inconsistent with CAIS. The patient underwent gonadectomy at 10 yr of age, and histology demonstrated presence of a non-malignant Sertoli cell tumor in the right gonad. We conclude that this is the first reported case of CAIS with accelerated onset of puberty resulting from a Sertoli cell tumor.

Original languageEnglish
Pages (from-to)99-104
Number of pages6
Journalclinical pediatric endocrinology
Issue number2
Publication statusPublished - 2021


  • Androgen receptor gene
  • Complete androgen insensitivity syndrome
  • Disorders of sex development
  • Feminizing tumor
  • Sertoli cell tumor

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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