Mixed connective tissue and ovarian cancer: a case report.

Background: Mixed connective tissue disease (MCTD) is characterized by high titres of distinct antibodies: U1 ribonucleoprotein with variable clinical features seen in rheumatoid arthritis, systemic lupus erythematosus, scleroderma, polymyositis, and dermatomyositis. Limited case reports revealed the association between MCTD and cancer, like lymphoma, lung cancers, and others. Case presentation: A 22-year-old female presented with enlargement of the abdomen and oedema of the lower extremities, gradually started 25 days The patient had been diagnosed to have rheumatoid arthritis. She was treated with 7.5 mg/week MTX for 6 months. Physical examination revealed: pallor, lower limb oedema, with synovitis and deformities of hands. The laboratory tests showed anaemia, elevated levels of creatine phosphokinase ESR, positivity of antinuclear antibody, anti-ds DNA, and antinuclear ribonucleoprotein. Urinary protein excretion was 1625 mg/24 h. Chest X-ray showed bilateral pleural effusion. Echocardiography revealed pericardial effusion Thoracic-abdominal and pelvic tomography showed a heterogeneous mass with a diameter of 5 × 6 cm at the expense of the right ovary. The mass was removed surgically, and a biopsy was taken, and was compatible with ovarian high-grade serous adenocarcinoma. A course of solumedrol 1 g/IV/3 days was applied, and then continue with 60 mg/day oral predlone. Later on discharge, she was taken 25 mg/day predlone, and methotrexate 10 mg. Conclusions: Our case showed that the patient had no risk factors for developing ovary cancer. On the contrary, our patient was a young, non-smoker, without any previous treatment before the RA diagnosis was taken, and finally, she had 3 children with full-term pregnancy, and well health. This case highlights the importance of maintaining a high index of suspicion for malignancy in MCTD patients. However, further investigation on the role of the immune system in the development of ovarian cancer in women with autoimmune diseases including MCTD remains necessary.

Male infertility with muscle weakness: a point of view.

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 or drug addiction or family history. He had gynecomastia. Semen analysis revealed oligospermia in the patient. Follicle-stimulating hormone was elevated. Gene analysis could not be done due to funding issues. The percutaneous testicular biopsy revealed hypospermatogenesis, atrophy, and marked hyalinization 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 (MD) 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. However, there are no data on the prevalence of myotonic dystrophy type 1 (MD1) in Syria. Conclusion: The practicing physician should keep in mind the frequent association between MD and infertility.