Assuntos
Hiperpigmentação/patologia , Hipertricose/patologia , Adolescente , Criança , Feminino , Perda Auditiva Neurossensorial/diagnóstico , Hepatomegalia/diagnóstico por imagem , Humanos , Hipogonadismo/diagnóstico , Doenças Linfáticas/diagnóstico , Masculino , Síndrome , Ultrassonografia , Adulto JovemAssuntos
Nanismo/diagnóstico , Nanismo/terapia , Hipogonadismo/diagnóstico , Hipogonadismo/terapia , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/terapia , Xeroderma Pigmentoso/diagnóstico , Xeroderma Pigmentoso/terapia , Criança , Nanismo/genética , Humanos , Hipogonadismo/genética , Deficiência Intelectual/genética , Masculino , Xeroderma Pigmentoso/genéticaRESUMO
Two cases of Ehlers-Danlos syndrome affecting two real brothers are being reported. Both of them presented with features of atrophy and hyperextensibility of skin, hypermobility of joints and scarring at the sites of trauma. The elder brother also had kyphoscoliosis and hypogonadism with testicular failure.
Assuntos
Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/genética , Predisposição Genética para Doença , Adolescente , Seguimentos , Deformidades Congênitas da Mão/diagnóstico , Humanos , Hipogonadismo/diagnóstico , Hipogonadismo/genética , Cifose/diagnóstico , Cifose/genética , Masculino , Medição de Risco , Índice de Gravidade de Doença , IrmãosRESUMO
In male hypogonadism associated with bone loss, it is important to determine whether bone loss continues with ageing and an increased risk of fracture. We studied bone metabolism in 86 male leprosy patients, who were classified according to the presence or absence of osteoporosis. Osteoporosis was present when men had lumbar compression fractures or a mean BMD-2SD that of normal Japanese men in each age decade. Four men had fractures. Serum concentrations of 1,25-dihydroxyvitamin D and high-sensitivity parathyroid hormone were almost normal in both groups, whereas free testosterone and oestradiol were significantly lower in the osteoporosis group than in the non-osteoporosis group (free testosterone: P < 0.01, oestradiol: P < 0.05). The urinary concentrations of pyridinoline and deoxypyridinoline, as a marker of bone absorption, were significantly higher in the osteoporosis group than in the non-osteoporosis group (pyridinoline: P < 0.01, deoxypyridinoline: P < 0.01). The serum concentration of osteocalcin, a marker of bone formation, was significantly higher in the osteoporosis group than in the non-osteoporosis group (P < 0.01). Elevated concentration means that bone repair is increased possibly because of compensation mechanisms for increased bone loss. In the osteoporosis group, hypogonadism occurred, and high bone turnover continued even in older men. We recommend clinical studies of treatment such as replacement therapy to prevent bone loss and increasing risk of fractures in older men with leprosy.