Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2024 Sep;194(9):e63650.
doi: 10.1002/ajmg.a.63650. Epub 2024 May 6.

Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing

Jenna Damon  1 , Colby Chase  1 , Tomoyasu Higashimoto  1   2
Affiliations
Case Reports

Primary amenorrhea in myotonic dystrophy type 1: Initial presentation versus incidental finding on whole genome sequencing

Jenna Damon et al. Am J Med Genet A. 2024 Sep.

Abstract

Myotonic dystrophy type 1 is an autosomal dominant condition due to a CTG repeat expansion in the myotonic dystrophy protein kinase (DMPK) gene. This multisystem disorder affects multiple organ systems. Hypogonadism in males affected by myotonic dystrophy is commonly reported; however, the effect on female hypogonadism remains controversial. A 19-year-old female was referred to our genetics clinic due to primary amenorrhea without any family history of similar symptoms. Initial genetics evaluation identified a variant of uncertain significance in IGSF10, c.2210T>C (p.Phe737Ser). Follow-up genetic evaluation via whole genome sequencing identified at least 100 CTG repeats in the DMPK gene, thus resulting in the diagnosis of myotonic dystrophy type 1. The patient remains otherwise asymptomatic from myotonic dystrophy. This is the first report that demonstrates primary amenorrhea as a possible presenting feature of myotonic dystrophy type 1, thus providing evidence supporting female hypogonadism in myotonic dystrophy type 1.

Keywords: female hypogonadism; incidental findings; myotonic dystrophy type 1; primary amenorrhea.

PubMed Disclaimer

References

REFERENCES

    1. Bird, T. D. (1993). Myotonic dystrophy type 1. In M. P. Adam, J. Feldman, G. M. Mirzaa, R. A. Pagon, S. E. Wallace, L. J. H. Bean, K. W. Gripp, & A. Amemiya (Eds.), GeneReviews®. University of Washington.
    1. Cherif, Y., Zantour, B., Alaya, W., Berriche, O., Younes, S., & Sfar, M. H. (2015). Primary hyperparathyroidism and hyperthyroidism in a patient with myotonic dystrophy: A case report and review of the literature. Case Reports in Endocrinology, 2015, 735868.
    1. Dahlqvist, J. R., Orngreen, M. C., Witting, N., & Vissing, J. (2015). Endocrine function over time in patients with myotonic dystrophy type 1. European Journal of Neurology, 22, 116–122.
    1. Dao, T. N., Mathieu, J., Bouchard, J. P., & De Braekeleer, M. (1992). Fertility in myotonic dystrophy in Saguenay‐Lac‐St‐Jean: A historical perspective. Clinical Genetics, 42, 234–239.
    1. Dechanet, C., Castelli, C., Reyftmann, L., Coubes, C., Hamamah, S., Hedon, B., Dechaud, H., & Anahory, T. (2010). Myotonic dystrophy type 1 and PGD: Ovarian stimulation response and correlation analysis between ovarian reserve and genotype. Reproductive Biomedicine Online, 20, 610–618.

Publication types

Substances