Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism
Joint Authors
Salameh, Rami
Miah, Mumtaheena
Anastasopoulou, Catherine
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-05-19
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Salameh, Rami& Miah, Mumtaheena& Anastasopoulou, Catherine. 2020. Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism. Case Reports in Endocrinology،Vol. 2020, no. 2020, pp.1-3.
https://search.emarefa.net/detail/BIM-1147063
Modern Language Association (MLA)
Salameh, Rami…[et al.]. Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism. Case Reports in Endocrinology No. 2020 (2020), pp.1-3.
https://search.emarefa.net/detail/BIM-1147063
American Medical Association (AMA)
Salameh, Rami& Miah, Mumtaheena& Anastasopoulou, Catherine. Case Report: Homozygous C677T MTHFR Gene Mutation in Male with Hypogonadism. Case Reports in Endocrinology. 2020. Vol. 2020, no. 2020, pp.1-3.
https://search.emarefa.net/detail/BIM-1147063
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147063