Cytogenetics in urology.

Cytogenetic investigations throw some light into the bizarre and confusing state of intersexuality and disorders of sexual differentiation. Many a time, presentation of a patient with a totally ambiguous or mixed up external genitalia, lends confusion towards the assignment of sex to the individual patient. Even more disastrous is the assignment of the wrong sex to a patient due to the fact that inadequate investigations had been performed, followed by a hasty surgical procedure based on the inadequate investigations. With cytogenetic investigations, sex assignment is made slightly easier and more sensible. These investigations should be performed in the very early stages of life. Parents and sometimes patients themselves are, therefore, as a consequence, advised in a meaningful manner, to avoid later psychological catastrophes and hazards. Cytogenetic studies are therefore a prerequisite, an advantage, and imperative in patients with ambiguous genitalia. The experiences here involving 87 patients, have demonstrated that these investigations will always help to categorise the ambiguous genitalia patient accurately.

Chromosomal abnormalities: experience at Harare Hospital.

A study of 107 cases with chromosomal abnormalities seen over a four-year period is presented. The commonest abnormality was Trisomy 21 which accounted for 37% of all cases. There were also many cases with intersex. The results of this study were similar to a previous one done in the same department a few years ago. All the patients seen in this study presented with similar features to those seen elsewhere in patients with these syndromes.