[The 49 XXXXY syndrome. Report of a further case with leg ulcer and endocrine abnormalities (author's transl)].
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.
D000328:Adult; D004700:Endocrine System Diseases / Q000209:etiology*; D005640:Follicle Stimulating Hormone / Q000172:deficiency; D005832:Genital Diseases, Male / Q000209:etiology; D006801:Humans; D007871:Leg Ulcer / Q000209:etiology*; D007986:Luteinizing Hormone / Q000172:deficiency; D008297:Male; D012729:Sex Chromosome Aberrations / Q000150:complications* / Q000473:pathology; D013972:Thyrotropin / Q000172:deficiency
D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013972:Thyrotropin
Le syndrome 49 XXXXY. A propos d'un cas avec ulcère de jambe et perturbations endocriniennes.