SINDROME DE ROKITANSKY (AGENESIA UTERO- VAGINAL): CUADRO CLINICO, ASPECTOS DIAGNOSTICOS Y TERAPEUTICOS

MARÍA EUGENIA ESCOBAR; MIRTA GRYNGARTEN; GRACIELA DEL REY; ELISABETH BOULGOURDJIAN; ANA KESELMAN; ALICIA MARTÍNEZ; ANDREA ARCARI; MARTÍN BOU- KAHIR; LUIS ZUCCARDI

Archivos Argentinos de Pediatría

Sociedad Argentina de Pediatría

Año: 2007 vol. 105 p. 25 - 31

0325-0075

SUMMARY Introduction. Rokitansky syndrome is the most severe anomaly of the female reproductive tract leading to amenorrhea and infertility. Objective. To analyze the clinical characteristics, diagnosis, treatment and evolution of a group of affected adolescents. Material and methods. Nine adolescents with final diagnosis of Rokitansky Syndrome (15.2 ± 1.5 years of age) were evaluated because of lack of menarche or abdominal pain. Physical examination, ultrasonography, abdominal and pelvic magnetic resonance imaging (MRI), karyotype, hormone measurements and laparoscopy were performed. Results. All patients developed normal secondary sexual characteristics. Three girls had renal abnormalities and three skeletal malformations. The ultrasound confirmed uterine agenesis, rudimentary or asymmetrical uterus, the latest with hematometra showed by MRI. Laparoscopy found tubal or ovarian anomalies in 6 patients. Two patients had abnormal karyotype: the first one had 46 X, del X (q22q24) and the other 46 XX t (3:22) (q 13.3, q 12.1). Both girls had normal ovarian function. Normal hormone levels were found in six patients, one had a nonclassical congenital adrenal hyperplasia hormonal pattern, which was confirmed by molecular analysis, and the other patient showed a polycystic ovary syndrome hormonal profile. Six patients underwent vaginoplasty with good results. Conclusions. Adolescents with Rokitansky syndrome should be evaluated with all the methods used in this study to search for different alterations described or not in association with this syndrome. Early diagnosis is advisable to plan the most appropriate treatment for these girls. Key words: Rokitansky syndrome, diagnosis, karyotype, hormonal profile, treatment.