Published: 2017-01-17

Ambiguous genitalia: a clinical and chromosomal study

V. Anantha Kumari, A. Vani


Background: To correlate the findings of physical examination, ultrasonography and chromosomal analysis, so that to give proper advice to the concerned parents as early as possible in rearing up of the child as male or female according to the situation.

Methods: The study is undertaken with forty cases with ages ranging from new borne to 20 yrs. Out of these 40 cases eight cases are below one year. In these cases physical examination is correlated with ultrasonography and chromosomal analysis.

Results: In chromosomal analysis three persons out of forty cases were mosaics with 45, XO/46, twenty one cases who showed the chromosomal pattern as 46, XY mostly showed with no mullarian reminents. On examination palpable gonads were found in labio-scrotal sacs in seventeen cases. One of these cases was reared as girl found cytogenetically as 46, XY with the ultrasonographic impression as small uterus with no ovaries. Nineteen cases who with ambiguous genitalia showed the chromosomal pattern as 46, XX one out of these cases showed enlargement of the breast, and on examination of external genitalia found enlarged clitoris with labiamajora and minora. The child was brought up as male. Genitogram showed the absence of uterus.

Conclusions: Chromosomal studies with ultrasonography can help in rearing a child male or female in young generation by surgical and Hormonal therapy. This prevents many problems in later life. This fact should be advertised openly in the public so that illiterate people should be alert.



Ultrasonography, Chromosomal analysis, Mullarian reminents

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