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A Case of Down`s Syndrome with Thyrotoxic Crisis

Other Title
갑상선 중독 위기를 보였던 다운 증후군 1예
정, 재호; 안, 상미; 김, 현주; 김, 혜진; 김, 대중; 이, 관우; 정, 윤석
Journal of Korean Endocrine Society, 22(3):225-228, 2007
Journal Title
Journal of Korean Endocrine Society; 대한내분비학회지
Patients with Down's syndrome have an increased prevalence of autoimmune disorders that affect both the endocrine and non-endocrine organs. The most common thyroid abnormality in Down's syndrome is subclinical hypothyroidism (12.5~32.5%). The occurrence of Down's syndrome in conjunction with hyperthyroidism is rare (0.6~2.5%).

A 35-year old female was transferred to our hospital because of hypotension and mental change. She had suffered from a poor oral intake and general weakness for the previous 1 week. She had been admitted local hospital and was diagnosed as hyperthyroidism. On the third day after admission, she lost consciousness and was then transferred to University Hospital. Physical examination revealed hypotension (76/39 mmHg), sinus tachycardia (111/min) and tachypnea (28/min). The upward-outward slant of the palpebral fissures, epicanthal folds, low-set ears, short stature and clinodactyly were all identified. The thyroid gland was not enlarged and there was no evidence of ophthalmopathy. The serum free T4 concentration was 3.32 ng/dL, the T3 level was 212 ng/dL and the TSH level was 0.01 uIU/mL. She was positive for TBII. Abdominal computed tomography showed ascites and pneumoperitoneum. Primary closure was done on the duodenal ulcer perforation site. She was treated with transrectal propylthiouracil and intravenous esmolol. Chromosomal analysis revealed 47XX and 21 trisomy. She was finally diagnosed as Down's syndrome, Graves' disease and duodenal ulcer perforation. Her hyperthyroidism was controlled with PTU 100 mg after discharge.
Down's syndromeGraves' disease
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Medical Genetics
Journal Papers > School of Medicine / Graduate School of Medicine > Endocrinology & Metabolism
AJOU Authors
김, 현주김, 혜진김, 대중이, 관우정, 윤석
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