著者
Hideyuki Imai Hiroto Nishikawa Asami Suzuki Eriko Kodama Tatsuya Iida Kentaro Mikura Mai Hashizume Yasuyoshi Kigawa Rie Tadokoro Chiho Sugisawa Kei Endo Toru Iizaka Fumiko Otsuka Shoichiro Nagasaka
出版者
The Japanese Society of Internal Medicine
雑誌
Internal Medicine (ISSN:09182918)
巻号頁・発行日
vol.61, no.19, pp.2899-2903, 2022-10-01 (Released:2022-10-01)
参考文献数
23
被引用文献数
1 8

A 54-year-old man had been drinking approximately 1.2 L of soy milk (equivalent to approximately 310 mg of isoflavones) per day for the previous 3 years. He then developed erectile dysfunction and gynecomastia. On an examination in our department in May, blood tests showed low gonadotropin and testosterone levels, indicative of secondary hypogonadism. He stopped drinking soy milk on his own in June of that year. When he was admitted in August, blood tests showed an improved gonadal function. Secondary hypogonadism caused by the excessive intake of isoflavones in soy milk was diagnosed. In men, an excessive intake of isoflavones may cause feminization and secondary hypogonadism.
著者
Hideyuki Imai Hiroto Nishikawa Asami Suzuki Eriko Kodama Tatsuya Iida Kentaro Mikura Mai Hashizume Yasuyoshi Kigawa Rie Tadokoro Chiho Sugisawa Kei Endo Toru Iizaka Fumiko Otsuka Shoichiro Nagasaka
出版者
The Japanese Society of Internal Medicine
雑誌
Internal Medicine (ISSN:09182918)
巻号頁・発行日
pp.8578-21, (Released:2022-02-26)
参考文献数
23
被引用文献数
1 8

A 54-year-old man had been drinking approximately 1.2 L of soy milk (equivalent to approximately 310 mg of isoflavones) per day for the previous 3 years. He then developed erectile dysfunction and gynecomastia. On an examination in our department in May, blood tests showed low gonadotropin and testosterone levels, indicative of secondary hypogonadism. He stopped drinking soy milk on his own in June of that year. When he was admitted in August, blood tests showed an improved gonadal function. Secondary hypogonadism caused by the excessive intake of isoflavones in soy milk was diagnosed. In men, an excessive intake of isoflavones may cause feminization and secondary hypogonadism.
著者
Satoshi Narumi Larry A Fox Keisuke Fukudome Zenichi Sakaguchi Chiho Sugisawa Kiyomi Abe Kaori Kameyama Tomonobu Hasegawa
出版者
(社)日本内分泌学会
雑誌
Endocrine Journal (ISSN:09188959)
巻号頁・発行日
pp.EJ17-0194, (Released:2017-09-01)
被引用文献数
10

Thyroid peroxidase (TPO) deficiency, caused by biallelic TPO mutations, is a well-established genetic form of congenital hypothyroidism (CH). More than 100 patients have been published, and the patients have been diagnosed mostly in the frame of newborn screening (NBS) programs. Correlation between clinical phenotypes and TPO activity remains unclear. Here, we report clinical and molecular findings of two unrelated TPO mutation-carrying mildly hypothyroid patients. The two patients were born at term after an uneventful pregnancy and delivery, and were NBS negative. They sought medical attention due to goiter at age 8 years. Evaluation of the thyroid showed mild elevation of serum TSH levels, normal or slightly low serum T4 levels, high serum T3 to T4 molar ratio, high serum thyroglobulin levels, and high thyroidal 123I uptake. We performed next-generation sequencing-based genetic screening, and found that one patient was compound heterozygous for two novel TPO mutations (p.Asp224del; c.820-2A>G), and the other was homozygous for a previously known mutation (p.Trp527Cys). In vitro functional analyses using HEK293 cells showed that the two amino acid-altering mutations (p.Asp224del and p.Trp527Cys) caused partial loss of the enzymatic activity. In conclusion, we report that TPO mutations with residual activity are associated with mild TPO deficiency, which is clinically characterized by marked goiter, mild TSH elevation, high serum T3 to T4 molar ratio, and high serum thyroglobulin levels. Our findings illuminate the hitherto under-recognized correlation between clinical phenotypes and residual enzymatic activity among patients with TPO deficiency.