RESUMO
A phenotypically normal male was found to have a chromosomal complement of 45,X/46,XY/47,XY, +21. This mosaic pattern has been reported only twice before. Although the patient had apparently fathered two children, he now has progressive impotence, absence of sperm in the seminal fluid, atrophic testes, almost complete absence of germ cells in testicular biopsies, high plasma LH and FSH, and a low normal testosterone. There were no physical characteristics of Turner's or Down's syndromes except for dermatoglyphic features commonly associated with the latter. These observations in this patients emphasise the value of chromosomal studies in multiple tissues in cases of mosaicism with atypical clinical features.
Assuntos
Deleção Cromossômica , Síndrome de Down/genética , Hipogonadismo/genética , Mosaicismo , Cromossomos Sexuais , Cromossomo Y , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , FenótipoRESUMO
Addison's disease developed in two patients after they had tuberculosis. Thyrotoxicosis subsequently developed. In both cases, the adrenal glands were calcified, suggesting that Addison's disease was tuberculous in origin. Results of tests for antihyroglobulin, antimicrosomal, and adrenal cortex antibodies were normal. These findings do not suggest an autoimmune basis for the occurrence of the two endocrinopathies. The rarity of the simultaneous occurrence of both disorders suggests it to be fortuitous.
