Cytogenetic studies in clinical endocrinology began after the demonstration of sex-related dimorphism in nuclei of human tissues by Moore and Barr in 19541 Techniques of nuclear sexing, based upon these observations, were promptly applied to the study of patients with abnormalities of gonadal development and function.2 Results suggested an abnormality of chromosome number or morphology or both in some of these clinical syndromes.
Development of methods for studying the chromosomes of man,3,4 led to studies of the karyotype in these patients. An association of abnormalities of the karyotype with some abnormalities of gonadal development and function was soon established. However, despite extensive studies, the relationship between chromosome number and morphology, on the one hand, and the pathogenesis and clinical expression of hypogonadal states in man, on the other, is still obscure. We shall consider the findings of cytogenetic studies in patients seen by the endocrinologist and evaluate
Ross GT, Tijo JH. Cytogenetics in Clinical Endocrinology. JAMA. 1965;192(11):977–986. doi:10.1001/jama.1965.03080240047011
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