Primary Hyperparathyroidism and Hyperthyroidism Associated with Myotonic Dystrophy: A Review of the Literature | Chapter 15 | New Horizons in Medicine and Medical Research Vol. 9

 Background: Primary hypogonadism, diabetes mellitus, and thyroid and parathyroid dysfunction are all typical endocrine symptoms in myotonic dystrophy (MD).

The goal of this study is to provide a rare case of primary hyperparathyroidism and hyperthyroidism associated with MD, as well as to assess its significance through a literature review.

We describe a 46-year-old mother with a kid who has a family history of MD. She needed a pacemaker after being diagnosed with cardiac arrhythmia. Her eyes were found to have a bilateral cataract. Her complaints were muscle weakness, extensive myalgia, and palpitation. Electromyography revealed myotonic discharges (EMG). Serum calcium was 2.83 mmol/L, serum phosphate was 1.2 mmol/L, parathormone was 362.5 pg/mL, and thyroid stimulating hormone was TSH FT4 21.17 ng/mL, 0.02 mIU/L (normal range: 0.34–5.6 mIU/L), and negative anti-thyroperoxidase antibodies. During a cervical ultrasound, a multinodular goitre was identified. Using 99mTc-MIBI scintigraphy, a lower right parathyroid adenoma was detected. Clinical evidence, family history of MD, EMG data, and endocrine abnormalities all pointed to MD being linked to hyperthyroidism and primary hyperparathyroidism.

Author(S) Details

Yosra Cherif
Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Hiboun District, 5100, Mahdia, Tunisia.

Baha Zantour
Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Hiboun District, 5100, Mahdia, Tunisia.

Wafa Alaya
Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Hiboun District, 5100, Mahdia, Tunisia.

Olfa Berriche
Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Hiboun District, 5100, Mahdia, Tunisia.

Samia Younes
Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Hiboun District, 5100, Mahdia, Tunisia.

Mohamed Habib Sfar
Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Hiboun District, 5100, Mahdia, Tunisia.

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