title: Primary Hyperparathyroidism and Hyperthyroidism in a Patient with Myotonic Dystrophy: A Case Report and Review of the Literature.
abstract: Various endocrine manifestations are commonly described in myotonic dystrophy (MD), including primary hypogonadism, diabetes mellitus, and thyroid and parathyroid dysfunction. We describe a 46-year-old woman with a family history of MD with her son. She was diagnosed with cardiac arrhythmia and required the implantation of a pacemaker. She was noted to have a bilateral cataract. She complained of muscle weakness, diffuse myalgia, and palpitation. The electromyography (EMG) showed myotonic discharges. Laboratory tests showed high serum calcium 2.83 mmol/L, serum phosphate 1.2 mmol/L, parathormone 362.5 pg/mL, thyroid stimulating hormone TSH 0.02 mIU/L (normal range: 0.34-5.6 mIU/L), FT4 21.17 ng/mL, and negative anti-thyroperoxidase antibodies. Cervical ultrasound revealed a multinodular goiter. The 99mTc-MIBI scintigraphy localized a lower right parathyroid adenoma. The clinical data, the family history of MD, EMG data, and endocrine disturbances were strongly suggestive of MD associated with hyperthyroidism and primary hyperparathyroidism.
authors.affiliation: Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Hiboun District, 5100 Mahdia, Tunisia.
authors.forename: Yosra
authors.initials: Y
authors.lastname: Cherif
authors.affiliation: Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Hiboun District, 5100 Mahdia, Tunisia.
authors.forename: Baha
authors.initials: B
authors.lastname: Zantour
authors.affiliation: Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Hiboun District, 5100 Mahdia, Tunisia.
authors.forename: Wafa
authors.initials: W
authors.lastname: Alaya
authors.affiliation: Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Hiboun District, 5100 Mahdia, Tunisia.
authors.forename: Olfa
authors.initials: O
authors.lastname: Berriche
authors.affiliation: Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Hiboun District, 5100 Mahdia, Tunisia.
authors.forename: Samia
authors.initials: S
authors.lastname: Younes
authors.affiliation: Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Hiboun District, 5100 Mahdia, Tunisia.
authors.forename: Mohamed Habib
authors.initials: MH
authors.lastname: Sfar