Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism
We report a 44-year-old male, who was diagnosed with hypogonadotropic hypogonadism after complaining of erectile dysfunction, depression, and fatigue. He was started on testosterone replacement therapy. He persistently complained of fatigue despite increasing the dose of testosterone over two years...
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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2020/6945124 |
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| author | Rami Salameh Mumtaheena Miah Catherine Anastasopoulou |
| author_facet | Rami Salameh Mumtaheena Miah Catherine Anastasopoulou |
| author_sort | Rami Salameh |
| collection | DOAJ |
| description | We report a 44-year-old male, who was diagnosed with hypogonadotropic hypogonadism after complaining of erectile dysfunction, depression, and fatigue. He was started on testosterone replacement therapy. He persistently complained of fatigue despite increasing the dose of testosterone over two years and having therapeutic testosterone levels. He was found to have homozygous C677T methylenetetrahydrofolate reductase (MTHFR) gene mutation. After treatment with folate and B12, his symptoms resolve completely. MTHFR is a key enzyme in the folate pathway, and it plays an essential role in homocysteine metabolism. Homozygous C677T individuals have decreased activity of MTHFR enzyme with increased homocysteine levels, which is associated with increased risk of thrombosis. An association has been reported between C677T variant and male infertility. Patients identified to have hyperhomocysteinemia should be treated with B-complex vitamin supplements. Our case emphasizes other possible etiologies for fatigue and erectile dysfunction in a male with hypogonadism on testosterone therapy. Also, it shows possible association between MTHFR gene mutation and male hypogonadism. |
| format | Article |
| id | doaj-art-6ae54f2e0ae14c6c98372fee84c66bfc |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-6ae54f2e0ae14c6c98372fee84c66bfc2025-02-03T01:05:09ZengWileyCase Reports in Endocrinology2090-65012090-651X2020-01-01202010.1155/2020/69451246945124Case Report: Homozygous C677T MTHFR Gene Mutation in Male with HypogonadismRami Salameh0Mumtaheena Miah1Catherine Anastasopoulou2Endocrinology Department, Albert Einstein Medical Center-Philadelphia, Philadelphia, PA, USAEndocrinology Department, Albert Einstein Medical Center-Philadelphia, Philadelphia, PA, USAEndocrinology Department, Albert Einstein Medical Center-Philadelphia, Philadelphia, PA, USAWe report a 44-year-old male, who was diagnosed with hypogonadotropic hypogonadism after complaining of erectile dysfunction, depression, and fatigue. He was started on testosterone replacement therapy. He persistently complained of fatigue despite increasing the dose of testosterone over two years and having therapeutic testosterone levels. He was found to have homozygous C677T methylenetetrahydrofolate reductase (MTHFR) gene mutation. After treatment with folate and B12, his symptoms resolve completely. MTHFR is a key enzyme in the folate pathway, and it plays an essential role in homocysteine metabolism. Homozygous C677T individuals have decreased activity of MTHFR enzyme with increased homocysteine levels, which is associated with increased risk of thrombosis. An association has been reported between C677T variant and male infertility. Patients identified to have hyperhomocysteinemia should be treated with B-complex vitamin supplements. Our case emphasizes other possible etiologies for fatigue and erectile dysfunction in a male with hypogonadism on testosterone therapy. Also, it shows possible association between MTHFR gene mutation and male hypogonadism.http://dx.doi.org/10.1155/2020/6945124 |
| spellingShingle | Rami Salameh Mumtaheena Miah Catherine Anastasopoulou Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism Case Reports in Endocrinology |
| title | Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism |
| title_full | Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism |
| title_fullStr | Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism |
| title_full_unstemmed | Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism |
| title_short | Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism |
| title_sort | case report homozygous c677t mthfr gene mutation in male with hypogonadism |
| url | http://dx.doi.org/10.1155/2020/6945124 |
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