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Ullrich-turner syndrome, chromosome mosaicism and prophylactic gonadectomy

Maria Herbênia Oliveira Duarte^I; Ester Silveira Ramos^I; Odilon Iannetta^II; Iris Ferrari^III

Departamento de Genética e Biologia, Instituto de Ciências Biológicas, Universidade Federal de Brasilia, 70910 Brasilia, DF, Brasil

ABSTRACT

Twenty-four patients with Ullrich-Turner syndrome and its variants were analyzed to determine the mosaicism types and frequency and the X or Y origin of the chromosomal fragments in order to establish criteria for the indication of prophylactic gonadectomy. Twenty-one patients were mosaics, with a higher frequency of the 45,X/46,XX type. Six patients had cell lines with chromosome fragments: two X rings, two Y rings and two Y chromosomes of the pseudodicentric type. Thus, 17% of the cases had 45,X/46,XY mosaicism (with or without anomalous Y). The origin of the chromosome fragments was determined by the cytogenetic G-11 banding technique. On the basis of the cytogenetic results, the following clinical-surgical procedures were selected: group I (patients with mosaicism) was divided into two subgroups; subgroup A (45,X/46,XX) was followed clinically and treated hormonally; in subgroup B (45,X/46,XY) gonadectomy was followed by hormone treatment. Group II (patients with 45,X monosomy) was monitored at 6-month intervals with measurement of chorionic b-gonadotropin and peripheral blood a-fetoprotein levels and ultrasound examination.

Keywords: Ullrich-Turner syndrome; Chromosome mosaicism; Gonadectomy.

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