Korean J Urol.  2012 Feb;53(2):134-136.

Myotonic Dystrophy Type 1 Presenting as Male Infertility

• Kim WB
• Jeong JY
• Doo SW
• Yang WJ
• Song YS
• Lee SR
• Park JW
• Kim DW

Abstract

Myotonic dystrophy 1 (DM1) is a multi-system disorder characterized by endocrine defects that include testicular and tubular atrophy, oligospermia and azoospermia, and increased follicle-stimulating hormone levels. We describe a rare case of DM1 presenting as infertility in a 29-year-old man.

Keyword

Infertility; Myotonic dystrophy

MeSH Terms

Adult
Atrophy
Azoospermia
Follicle Stimulating Hormone
Humans
Infertility
Infertility, Male
Male
Myotonic Dystrophy
Oligospermia
Follicle Stimulating Hormone
Myotonic Dystrophy

Figure

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  FIG. 1 (A) Testicular biopsy revealed hypospermatogenesis (H&E, ×100), (B) atrophy, and marked hyalization of the seminiferous tubules (H&E, ×400).

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  FIG. 2 Needle electromyography demonstrated myotonic discharge at the distal extremities.

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