Primary Hyperparathyroidism and Hyperthyroidism in a Patient with Myotonic Dystrophy: a Case Report and Review of the Literature
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Hindawi Publishing Corporation Case Reports in Endocrinology Volume 2015, Article ID 735868, 5 pages http://dx.doi.org/10.1155/2015/735868 Case Report Primary Hyperparathyroidism and Hyperthyroidism in a Patient with Myotonic Dystrophy: A Case Report and Review of the Literature Yosra Cherif, Baha Zantour, Wafa Alaya, Olfa Berriche, Samia Younes, and Mohamed Habib Sfar Department of Endocrinology and Internal Medicine, Tahar Sfar University Hospital of Mahdia, Hiboun District, 5100 Mahdia, Tunisia Correspondence should be addressed to Yosra Cherif; [email protected] Received 11 April 2015; Accepted 19 May 2015 Academic Editor: Wayne V. Moore Copyright © 2015 Yosra Cherif et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. 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. 1. Introduction 2. Case Report Myotonic dystrophy (MD) is an autosomal dominant disor- A 46-year-old woman was admitted in 2010 for investigation der that results from an expanded CTG repeat in a myotonic of hypercalcemia discovered during recurrent nephrolithia- dystrophy protein kinase (DMPK) gene on chromosome sis. Her family history was noteworthy with cardiac arrhyth- 3or19.Itisthemostcommonmusculardystrophyin mia in two dead sisters and nephrolithiasis in another sister. adults. The disease is characterized by muscle weakness, Her son was diagnosed with MD at the age of 24 years. Five dystrophic changes in neuromuscular tissues, frontal bald- years ago, an arrhythmia was diagnosed and required the ness, cataracts, cardiac disorder, and mental impairment with implantation of a pacemaker. She was noted to have a bilateral the development of the disease process. Various endocrine cataract. She complained of muscle weakness, diffuse myal- manifestations are commonly described, including primary gia, and palpitation. The weakness was gradually progressive hypogonadism, diabetes mellitus, and thyroid and parathy- in arms. Physical examination revealed percussion myotonia roid dysfunction [1]. A few cases of hyperthyroidism or and the typical emaciated face of MD, hollow cheeks, droop- hypothyroidism associated with MD have been reported, but ing jaw, a peripheral neurogenic syndrome, and multinodular there are only 2 reports, to our knowledge, concerning MD goiter. There was no exophthalmia. The electrocardiogram associated with primary hyperparathyroidism (PHP) and was normal. Hypercalcaemia was confirmed 2.83 mmol/L. hyperthyroidism [2, 3].Herein,wedescribeanassociation There were no symptoms directly attributable to hyper- of PHP and hyperthyroidism in a patient with MD and we calcemia. Other laboratory tests showed serum phosphate reviewed all cases reported in the literature. 1.2 mmol/L, urinary calcium 0.153 mmol/kg/day, creatinine 2 Case Reports in Endocrinology — — cortisone L-Thyroxine L-Thyroxine thyroidectomy Methimazole and extirpation, subtotal Parathyroid adenoma ± 3.7 — ± ± 28/1.86 4.5/1.61 ± ± 1.6/25.8 g/dL/417 ng/dL 1.48 ng/mL ± 0.57 nmol/L 0.29 nmol/L Normal/low 16.6 Normal/normal 101.5 3.4–6.8 ng/100 mL/1.25– 1.3 0.5 ± ± U/mL T4/T3 Treatment Low TSH: 5 (2%) High TSH: 2 (5%) —— — — —— — —40 tiredness Euthyroid Euthyroid: 2.6 Euthyroid Normal Normal/normal — 1: excessive Myxedema — — L-Thyroxine Thyrotoxicosis 0.6 17.2 disease NormalNormal Euthyroid — —Normal — — — — Normal — Normal/normal — — Normal Euthyroid Normal Normal/normal — Hypothyroidism — — Low T4/— L-Thyroxine Hypothyroidism Hypothyroidism Myxedema — — L-Thyroxine Hormonal status Clinical features TSH Hyperthyroidism — — — Antithyroid drugs Hyperthyroidism — —Hyperthyroidism — — — — — — Hyperthyroidism Thyrotoxicosis —Hyperthyroidism — — — — — Hyperthyroidism, 1: hypothyroidism — — — L-Thyroxine 1: hypothyroidism 1: hypothyroidism 1: hypothyroidism — Normal Low T4/— L-Thyroxine 5: hypothyroidism 2: hyperthyroidism and hyperinsulinism hyperparathyroidism, Table 1: Thyroid disorder associated with MD: review of the literature. 1: single thyroid nodule 2: single thyroid nodule 9: single thyroid nodule 2: single thyroid nodules Euthyroid 1.7 8.0 Nontoxic multinodular goiter Euthyroid — — — 1: nontoxic multinodular goiter Euthyroid Euthyroid: 2.7 1: nontoxic multinodular goiter 1: nontoxic multinodular goiter 2: nontoxic multinodular goiter 2: nontoxic multinodular goiter 9: nontoxic multinodular goiter 4: nontoxic multinodular goiter Hyperthyroidism and Addison’s hypergonadotropic hypogonadism, Hypothyroidism and Addison’s disease Euthyroid — — — — — — — — — — — — — — — — — — — — — — — 53/F 39/F 53/M 27/M 38.3/— Age/sex 1 2 20 cases Number of ]7 ]1 ]19 ]1 ]2 ]12 ]2 7 ]97 ]1 19 ]17 12 5 ]33 ]2 1 24 ]1 ]26 13 ]1 22 ]1 6 9 18 ]1 ]1 ]1 14 11 2 8 ]12 ]12 21 26 10 ]4 23 17 25 15 ] 4 ] ] 16 20 Authors Ørngreen et al. 2012 [ Molina et al. 1996 [ Steinbeck and Carter 1982 [ Fukazawa et al. 1990 [ Bonanni et al. 1997 [ Lee and Hughes 1964 [ Zargar et al. 2002 [ Peterson et al. 1976Okuno [ et al. 1981 [ Pagliara et al. 1985 [ Daumerie et al. 1994 [ Stanburyetal.1954[ Drucker et al. 1961 [ Kuhl et al. 1961 [ Brumlik and Maier 1972 [ Sagel et al. 1976 [ Lecomte et al. 1977 [ Henriksen et al. 1978 [ Tredici and Coletti 1978 [ Okuno et al. 1979 [ Rioperez et al. 1979 [ Borda et al. 1982 [ Konagaya et al. 1983 [ Pizzi et al. 1985 [ Takase et al. 1987 [ Case Reports in Endocrinology 3 1case extirpation extirpation extirpation extirpation thyroidectomy extirpation, subtotal Parathyroid adenoma Parathyroid adenoma Parathyroid adenoma Parathyroid adenoma Parathyroid adenoma Parathyroidectomy in 65 pg/mL — (16%) > PTH pg/mL Treatment High: 16 cases 0.02 ± mmol/L Phosphate 0.67 Low: 7 cases 0.03 ± 2.37 0.74 High High — High High — High High: 2.73 — 180 — High: 4.05 0.35 5070 Parathyroidectomy 2.67 High: 2 cases Weakness Bone pain — — — Symptomatic No symptoms — — — No symptoms No symptoms hypercalcemia Hypercalcemia Hypercalcemia Hypercalcemia Hypercalcemia High Low High 2: hypercalcemia hypophosphatemia Hormonal status Clinical features Calcium mmol/L thyroid carcinoma hyperparathyroidism Parathyroid adenoma Parathyroid adenoma Parathyroid adenoma Hyperthyroidism and Hyperparathyroidism Hyperparathyroidism Hyperparathyroidism Hyperparathyroidism Hyperparathyroidism and neurofibromatosis 1: hyperparathyroidism 1: hyperparathyroidism 8: hyperparathyroidism Parathyroid hyperplasia Table 2: Hyperparathyroidism associated with MD: review of the literature. 16: hyperparathyroidism Symptoms in 1 case (parathyroid hyperplasia) 2: hyperparathyroidism and 13: pseudohypoparathyroidism Hypocalcemia 2.05 1.005 1013.9 — — 52/F 56/F 56/F 40/M Age/sex 44–56/M 55–57/M-M 36–58/6M-7F 44-12-42-45/F 25–65/4M-12F 1 1 1 2 4 24 97 44 cases Number of ]1 2 ]1 33 ] ] ] ] ] ] 29 31 3 1 28 27 ] 32 ] 30 Authors Ørngreen et al. 2012 [ Molinaetal.1996[ Rosenberg et al. 1988 [ Passeri et al. 2013 [ Harada et al. 1987 [ Kinoshita et al. 1997 [ Garcia Delgado and Ruiz Galiana 1988 [ Middleton et al. 1989 [ Downie and Jepson 1990 [ Bell et al. 1994 [ 4 Case Reports in Endocrinology level 52 mol/L, alkaline phosphatase 97 IU/L (normal range: reported 2 cases of MD associated with parathyroid adenoma 45–245 IU/L), parathormone 362.5 pg/mL (normal range: 15– and thyroid carcinoma treated with parathyroidectomy and 65 pg/mL), thyroid stimulating hormone TSH 0.02 mIU/L thyroidectomy [3]. To our knowledge, this publication is (normal range: 0.34–5.6 mIU/L), FT4 21.17 ng/mL (normal the third case report of MD associated with simultaneous range: 6.09–12.2 ng/mL), and negative anti-thyroperoxidase hyperthyroidism and hyperparathyroidism. antibodies. Cervical ultrasound revealed a multinodular Muscular disorders are often frequent in patients with goiter with isoechogenic homogenic nodules with clear thyrotoxicosis [34].Itcanmanifestasmyotonicfeatures[9, border and cystic cavities (8∗6mm). The 99mTc-MIBI 34].Severalauthorsreportedyetthatthetreatmentofpatients scintigraphy localized a lower right parathyroid adenoma. with hyperthyroidism improved myotonic symptoms [2, 9– The electromyography (EMG) showed myotonic discharges. 11, 34]. Then, it may be hard to distinguish them from The bone mineral density (BMD) was normal. The clinical myotonia related to MD in the absence of electromyographic data, the family history of MD and arrhythmia in 2 sisters, study. These myotonic discharges are nonspecific and can EMG data, and endocrine disturbances were strongly sug- be experienced in