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Izawa M, Hisamatsu E, Yoshino K, et al. Complete androgen insensitivity syndrome with accelerated onset of puberty due to a Sertoli cell tumor. Clin Pediatr Endocrinol. 2021;30(2):99-104doi: 10.1297/cpe.30.99.
Izawa, M., Hisamatsu, E., Yoshino, K., Yoshida, M., Sato, T., Narumi, S., Hasegawa, T., & Hamajima, T. (2021). Complete androgen insensitivity syndrome with accelerated onset of puberty due to a Sertoli cell tumor. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 30(2), 99-104. https://doi.org/10.1297/cpe.30.99
Izawa, Masako, et al. "Complete androgen insensitivity syndrome with accelerated onset of puberty due to a Sertoli cell tumor." Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology vol. 30,2 (2021): 99-104. doi: https://doi.org/10.1297/cpe.30.99
Izawa M, Hisamatsu E, Yoshino K, Yoshida M, Sato T, Narumi S, Hasegawa T, Hamajima T. Complete androgen insensitivity syndrome with accelerated onset of puberty due to a Sertoli cell tumor. Clin Pediatr Endocrinol. 2021;30(2):99-104. doi: 10.1297/cpe.30.99. Epub 2021 Apr 03. PMID: 33867670; PMCID: PMC8022032.
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Clin Pediatr Endocrinol. 2021;30(2):99-104. doi: 10.1297/cpe.30.99. Epub 2021 Apr 03.

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

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology

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

Affiliations

  1. Department of Endocrinology and Metabolism, Aichi Children's Health and Medical Center, Aichi, Japan.
  2. Department of Urology, Aichi Children's Health and Medical Center, Aichi, Japan.
  3. Department of Pathology, Kobe Children's Hospital, Hyogo, Japan.
  4. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  5. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.

PMID: 33867670 PMCID: PMC8022032 DOI: 10.1297/cpe.30.99

Abstract

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.

2021©The Japanese Society for Pediatric Endocrinology.

Keywords: Sertoli cell tumor; androgen receptor gene; complete androgen insensitivity syndrome; disorders of sex development; feminizing tumor

Conflict of interest statement

Tomonobu Hasegawa discloses the following financial relationships: receipt of scholarship donations from Novo Nordisk Pharma Ltd. and JCR Pharmaceuticals Co., Ltd.

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