[Associated Duchenne's disease and Marfan's disease].
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Biomedical subjects
Publications and source records attributed to D Floret.
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A 40 years old man with 49 XXXXY chromosomes is reported who has been suffering from a leg ulcer for many years. Clinical features were those usually seen in patients with the 49 XXXXY syndome. Low plasma testosterone level, elevated LH and FSH levels, and thyroid dysfunction wigh high peripheral blood TSH levels were the main endocrine anomalies in this patient. The association between the occurence of leg ulcers and sex chromosome anomalies is discussed. The endocrine dysfunction in this patient is compared to the endocrine features of Klinefelter's syndrome.
The authors report a case of idiopathic, chronic inappropriate secretion of antidiuretic hormone (S I A D H) in a 31 months old boy. This inappropriate secretion of ADH was demonstrated by three water tolerance tests and by the bioassays of ADH in urine. These findings were detected five months later suggesting chronic S I A D H. After a review of the literature the mechanism and the treatment of this disease are discussed.
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