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Hypoparathyroidism and insulin‐dependent diabetes mellitus in a patient with Kearns–Sayre syndrome harbouring a mitochondrial DNA deletion
Author(s) -
Isotani Haruhiko,
Fukumoto Yoshito,
Kawamura Hiroshi,
Furukawa Keizo,
Ohsawa Nakaaki,
Goto Yuichi,
Nishino Ichizo,
aka Ikuya
Publication year - 1996
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1046/j.1365-2265.1996.00856.x
Subject(s) - medicine , hypoparathyroidism , endocrinology , ketoacidosis , diabetes mellitus , insulin , kearns–sayre syndrome , short stature , diabetic ketoacidosis , type 1 diabetes , mitochondrial dna , biology , genetics , gene
We report a 17‐year‐old girl with short stature, external ophthalmoplegia, atypical retinal pigmentary degeneration, sensorineural hearing loss, and cardiac conduction defect (Kearns–Sayre syndrome). A large‐scale deletion (6741 base pairs) in mitochondrial DNA was found in her muscle specimen. She also had insulin‐dependent diabetes mellitus (IDDM). On admission, her plasma glucose level was elevated at 31.0mmol/l with mild ketoacidosis, and haemoglobinA1c elevated at 16.5%. After improvement of diabetic ketoacidosis, she was placed on insulin 24–30 units/day despite her small body weight of 25 kg. There was reduced excretion of urinary C‐peptide at 3.97 nmol/day. In addition, she had idiopathic hypoparathyroidism with a serum calcium level of 2.15 mmol/l, phosphate 1.7 mmol/l, and intact PTH below 10 ng/l. Human leucocyte associated antigen typing showed A24, A26; B54, B61; CW1, CW3; DR8, DR14; DQ1 and DQ3, suggesting that the presence of HLA‐A24 and CW3 antigen contributed to the association of IDDM and hypoparathyroidism, similar to Japanese patients with polyglandular autoimmune syndrome, complicated by hypoparathyroidism and IDDM. We suggest that a genetic linkage, as well as mitochondrial dysfunction, may be responsible for the association of the two disease states. This is an extremely rare case of Kearns–Sayre syndrome, presenting in association with IDDM and idiopathic hypoparathyroidism.