FORM OF DIABETES INSIPIDUS CHARACTERIZED BY SEX-LINKED INHERITANCE AND UNRESPONSIVENESS TO THE ANTIDIURETIC HORMONE. NEW GENOTYPIC ENTITY
- 1 August 1954
- journal article
- research article
- Published by Oxford University Press (OUP) in Acta Endocrinologica
- Vol. 16 (4) , 355-364
- https://doi.org/10.1530/acta.0.0160355
Abstract
Genetically determined diabetes insipidus occurs in several different forms. One form is inherited as a simple dominant. Two other forms are caused by 2 different mutations in the X chromosome, one of which shows the usual susceptibility to antidiuretic hormone (ADH). In this paper the other form of sex-linked diabetes insipidus, which appeared to be an independent genotypic entity, was presented. A family containing 9 known cases in 4 generations was described. Four of the 9 were tested for their reaction to ADH, but there was a complete lack of response in each case.Keywords
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- NEPHROGENIC DIABETES INSIPIDUS: TRANSMITTED BY FEMALES AND APPEARING DURING INFANCY IN MALESAnnals of Internal Medicine, 1947