Familial Hyperaldosteronism Type 3 with a Rapidly Growing Adrenal Tumor: An In Situ Aldosterone Imaging Study

Nae Takizawa, Susumu Tanaka, Koshiro Nishimoto, Yuki Sugiura, Makoto Suematsu, Chisato Ohe, Haruyuki Ohsugi, Yosuke Mizuno, Kuniaki Mukai, Tsugio Seki, Kenji Oki, Celso E. Gomez-Sanchez, Tadashi Matsuda

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)


Primary aldosteronism is most often caused by aldosterone-producing adenoma (APA) and bi-lateral adrenal hyperplasia. Most APAs are caused by somatic mutations of various ion channels and pumps, the most common being the inward-rectifying potassium channel KCNJ5. Germ line mutations of KCNJ5 cause familial hyperaldosteronism type 3 (FH3), which is associated with severe hyperaldosteronism and hypertension. We present an unusual case of FH3 in a young woman, first diagnosed with primary aldosteronism at the age of 6 years, with bilateral adrenal hyperplasia, who underwent unilateral adrenalectomy (left adrenal) to alleviate hyperaldosteronism. However, her hyperaldosteronism persisted. At the age of 26 years, tomography of the remaining adrenal revealed two different adrenal tumors, one of which grew substantially in 4 months; therefore, the adrenal gland was removed. A comprehensive histological, immunohistochemical, and molecular evaluation of various sections of the adrenal gland and in situ visualization of aldosterone, using matrix-assisted laser desorption/ionization imaging mass spectrometry, was performed. Aldosterone synthase (CYP11B2) immunoreactivity was observed in the tumors and adrenal gland. The larger tumor also harbored a somatic β-catenin activating mutation. Aldosterone visualized in situ was only found in the subcapsular regions of the adrenal and not in the tumors. Collectively, this case of FH3 presented unusual tumor development and histological/molecular findings.

Original languageEnglish
Pages (from-to)128-138
Number of pages11
JournalCurrent Issues in Molecular Biology
Issue number1
Publication statusPublished - 2022 Jan


  • Adrenal tumor
  • CYP11B2
  • Familial hyperaldosteronism type 3
  • KCNJ5
  • β-catenin

ASJC Scopus subject areas

  • Microbiology
  • Molecular Biology
  • Microbiology (medical)


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