Primary amenorrhea and XY karyotype: identifying patients in risk

Revista brasileira de ginecologia e obstetrícia : revista da Federação Brasileira das Sociedades de Ginecologia e Obstetrícia
Rafael Fabiano Machado RosaGiorgio Adriano Paskulin

Abstract

to verify the prevalence and clinical characteristics of patients with primary amenorrhea and XY karyotype, evaluated in our Service, aiming at identifying findings which could help their recognition. from January 1975 to November 2007, 104 patients with amenorrhea were evaluated. All the cases were analyzed by the karyotype by GTG bands. Among them, 21 (20.2%) presented a XY 46 constitution. Nevertheless, two of them were excluded from the study, because of incomplete data in their patient's chart. Most of the 19 patients who formed the sample had been referred to us by the gynecology clinics (63.2%). Their ages varied from 16 to 41 years old (an average of 22.1). Data were collected about their family and previous history, physical examination and results of complementary exams and the information was taken into consideration to determine the diagnosis. the predominant diagnosis was resistance to androgens syndrome (n=12; 63.2%); five patients (25.3%) presented XY pure gonadal dysgenesis (XY PGD), one (5.3%) 17 alpha-hydroxylase deficiency, and one (5.3%), 5 alpha-reductase deficiency. Clinical findings frequently found in these patients included abnormal development of secondary sexual characters (n=19), uterine agenesia wit...Continue Reading

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