Resumo

MONJAGATTA, N; ASCURRA, M; TORRES, E  e  RODRIGUEZ, S. Cytogenetics studies in carriers of anomalies in external genitalia. Mem. Inst. Investig. Cienc. Salud [online]. 2002, vol.1, n.1, pp.48-50. ISSN 1812-9528.

ABSTRACT In patient with anomalies of external genitalia, it is difficult to carry out the determination of sex. These anomalies may vary from hypospadia in males to clitoris hipertrophy in women. These problems do not necessarily indicate an anomaly of the sexual chromosomes because they may be caused by monogenetic defects or non genetic causes. Nevertheless, the determination of the kariotipe in a child carrier of an anomaly in the external genitalia should constitute an essential part of the investigation in the difficult task of sex assignment. In order to determine the number of patients that consulted to determine their cromatinyc and/or cromosomyc sex, as well as their ages and the main reasons of consultation, the records of all patients that attended the service of Genetics of the Health Sciences Institute (IICS) retrospectively from January 1985 to January 2000 were evaluated retrospectively. The study of the sexual chromatin was carried out in bucal mucous and the chromosomic study in peripheral blood. Of the 2,137 patients, 3.8% was carriers of anomalies of external genitalia. Thirty percent of the 82 carriers was less than a year old at the moment of consultation, 33.5% between one and twelve years old, 26.7% was between eleven and twenty years old and 9.8% was more than 20 years old. The reason of consultation was genital ambiguity in 42.3%, hypoplasy of external genitalia in 32.3%, clitoris hiperthrophy in 2.6%, united or bilateral cryptorchid in 11.4% and hypopadias in 5.6%. For the assignment of the chromosomic sex, the chromosomyc study was carries out in 79.3% of the carriers of anomalies in their external genitalia, the sexual chromatin in 13.4% and both studies were carried out in 7.3% . The assignment of sex should be the result of a careful analysis of the kariotipe and patient's phenotype, being fundamental an early and accurate diferentiation, for the possibility of a surgical correction accompanied by psychological support.

Palavras-chave : Anomaly; chromosomal; ambiguity; carriers.

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