Thyroid abnormalities in patients with myotonic dystrophy. 1982

K S Steinbeck, and J N Carter

Myotonic dystrophy (MD) is a systemic genetic disorder predominantly affecting musculature. Although endocrine disturbances have been described, data relating to thyroid gland involvement are sparse and conflicting. To further investigate this aspect, twenty MD patients and twenty age-and sex-matched controls were studied. All were clinically euthyroid and there were no significant differences between circulating levels (mean +/- SD) of T4 (101 . 5 +/- 28.2 v. 103 . 8 +/- 27 . 7 nmol/l), T3 (1 . 86 +/- 0 . 57 v. 2 . 15 +/- 0 . 47 nmol/l), rT3 (0 . 39 +/- 0 . 14 v. 0 . 42 +/- 0 . 09) nmol/l) or TSH (2 . 6 +/- 0 . 5 v. 2 . 4 +/- 0 . 8 mu/l) or between T3 resin uptakes (97 +/- 8 v. 98 +/- 11%). TSH responses following TRH stimulation were significantly less in the MD patients (323 +/- 141 v. 529 +/- 240%; P less than 0.0025). The mean maximum TSH levels achieved were 6 . 7 +/- 3 . 6 mu/l (MD) and 17 . 1 +/- 7 . 2 mu/l (controls); P less than 0.005. Two patients had multinodular goitres (MNG) and one a single thyroid nodule. Thyroid scans were normal except for patchy uptake in the two MNG patients. There was no abnormal incidence of circulating thyroid microsomal or thyroglobulin antibodies, and thyrotrophin binding inhibitory immunoglobulin levels were normal in four patients. It is concluded that in MD: 1 palpable thyroid gland abnormalities occur with increased frequency, 15% (three/twenty) in the present study and 20% (twenty/102 case reports) from a review of the literature; 2 TSH responses to TRH are significantly reduced; 3 circulating thyroid hormone levels are usually normal.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009223 Myotonic Dystrophy Neuromuscular disorder characterized by PROGRESSIVE MUSCULAR ATROPHY; MYOTONIA, and various multisystem atrophies. Mild INTELLECTUAL DISABILITY may also occur. Abnormal TRINUCLEOTIDE REPEAT EXPANSION in the 3' UNTRANSLATED REGIONS of DMPK PROTEIN gene is associated with Myotonic Dystrophy 1. DNA REPEAT EXPANSION of zinc finger protein-9 gene intron is associated with Myotonic Dystrophy 2. Dystrophia Myotonica,Myotonic Dystrophy, Congenital,Myotonic Myopathy, Proximal,Steinert Disease,Congenital Myotonic Dystrophy,Dystrophia Myotonica 1,Dystrophia Myotonica 2,Myotonia Atrophica,Myotonia Dystrophica,Myotonic Dystrophy 1,Myotonic Dystrophy 2,PROMM (Proximal Myotonic Myopathy),Proximal Myotonic Myopathy,Ricker Syndrome,Steinert Myotonic Dystrophy,Steinert's Disease,Atrophica, Myotonia,Atrophicas, Myotonia,Congenital Myotonic Dystrophies,Disease, Steinert,Disease, Steinert's,Dystrophia Myotonica 2s,Dystrophia Myotonicas,Dystrophica, Myotonia,Dystrophicas, Myotonia,Dystrophies, Congenital Myotonic,Dystrophies, Myotonic,Dystrophy, Congenital Myotonic,Dystrophy, Myotonic,Dystrophy, Steinert Myotonic,Myopathies, Proximal Myotonic,Myopathy, Proximal Myotonic,Myotonia Atrophicas,Myotonia Dystrophicas,Myotonic Dystrophies,Myotonic Dystrophies, Congenital,Myotonic Dystrophy, Steinert,Myotonic Myopathies, Proximal,Myotonica, Dystrophia,Myotonicas, Dystrophia,PROMMs (Proximal Myotonic Myopathy),Proximal Myotonic Myopathies,Steinerts Disease,Syndrome, Ricker
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D000368 Aged A person 65 years of age or older. For a person older than 79 years, AGED, 80 AND OVER is available. Elderly
D013959 Thyroid Diseases Pathological processes involving the THYROID GLAND. Disease, Thyroid,Diseases, Thyroid,Thyroid Disease
D013961 Thyroid Gland A highly vascularized endocrine gland consisting of two lobes joined by a thin band of tissue with one lobe on each side of the TRACHEA. It secretes THYROID HORMONES from the follicular cells and CALCITONIN from the parafollicular cells thereby regulating METABOLISM and CALCIUM level in blood, respectively. Thyroid,Gland, Thyroid,Glands, Thyroid,Thyroid Glands,Thyroids

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