A superfemale with primary Sjögren's syndrome which involved systemic organs

Abstract

Miyakawa H, Iyonaga K, Arima S, Yonekawa Y, Suga M, Ando M (First and Third Departments of Internal Medicine, Kumamoto University School of Medicine, Kumamoto, Japan). A superfemale with primary Sjögren's syndrome which involved systemic organs (Case report). J Intern Med 1997; 242: 261–5. A 52‐year‐old Japanese woman complicated by a sex chromosomal anomaly as a superfemale, a mosaic of XXXXX/XXXX/XXX/XX/XO, with mild mental retardation, was hospitalized for dry mouth, dry eyes, and proteinuria. The sialography of the right parotid gland showed a globular‐type gland enlargement. A definite diagnosis of primary Sjögren's syndrome (SS) was made, and further examinations revealed not only typical sicca syndrome but also systemic extraglandular lymphocytic infiltration; interstitial pneumonitis, glomerular‐ and interstitial nephritis, superficial gastritis, thyroiditis, and a severe excitation conductive impairment of heart. We report a very rare case of superfemale with primary SS which involved systemic organs.

Rare combination of simple virilizing form of 21-hydroxylase deficiency, Graves’ disease and 47, XXX in a woman: A case report

“…To the best of our knowledge, it was the first case that 47, XXX and 21-OHD appearing in our patient at the same time, but the possible mechanisms that whether 21-OHD are prone to combine with 47, XXX has not been reported yet. In addition, chromosome abnormality such as turner syndrome and triple X had higher frequencies to combine with autoimmune thyroid disease according to Elsheikh and Rhodes et al [29][30][31][32] They believed that X chromosome plays an important role in the maintenance of immuno competence through a gene on the long arm of the X chromosome. In our case, the patient was found to have triple X and autoimmune thyroid disease.…”