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

Autor: Damon J; Department of Internal Medicine, Division of Genetic Medicine, University of Michigan, Ann Arbor, Michigan, USA., Chase C; Department of Internal Medicine, Division of Genetic Medicine, University of Michigan, Ann Arbor, Michigan, USA., Higashimoto T; Department of Internal Medicine, Division of Genetic Medicine, University of Michigan, Ann Arbor, Michigan, USA.; Department of Pediatrics, Division of Genetics, Genomics, and Metabolism, University of Michigan, Ann Arbor, Michigan, USA.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Sep; Vol. 194 (9), pp. e63650. Date of Electronic Publication: 2024 May 06.
DOI: 10.1002/ajmg.a.63650
Abstrakt: 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.
(© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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