Male infertility with muscle weakness: a point of view

Abstract

Introduction and importance: The most common causes of infertility are idiopathic spermatogenetic disorders; occurring in multiple reproductive or systemic diseases. The underlying genetic disorders influence the treatment, and transmission of the disease to the offspring. Case presentation: A 32-year-old Syrian male, married for 6 years, presented with primary infertility. The patient had a history of muscle dystrophy for 12 years. He had no previous medical, drug addiction, or family history. He had gynaecomastia. Semen analysis revealed: oligospermia in the patient. FSH was elevated. Gene analysis could not be done due to funding issues.The Percutaneous testicular biopsy revealed hypospermatogenesis, atrophy, and marked hyalization of the seminiferous tubules.Electromyography of the upper extremities demonstrated myotonic discharges, with a waxing–waning frequency, amplitude and a characteristic ‘engine revving’ sound. Clinical discussion: Myotonic dystrophy is an autosomal dominant inheritance disease, with adult-onset. Muscle weakness is the predominant presenting feature, with early involvement of the distal limbs and neck muscles, and a characteristic facial appearance. Systemic clinical manifestations may include cardiac conduction defects, cataracts, insulin resistance and diabetes, testicular atrophy with impaired spermatogenesis, and others. Testicular biopsy findings are specific. To our knowledge, this is the first case of male infertility associated with MD in Syria. Although there are no data on the prevalence of MD1 in Syria. Conclusion: The practicing physician should keep in mind the frequent association between MD, and infertility.