Abstract

GONZALEZ FERNANDEZ, Pedro; QUESADA DORTA, Marlene; CABRERA PANIZO, Raquel  and  BELLO ALVAREZ, Daysi. Mixed gonodal dysgenesis with chromosomic formula 45,X/46,X (mar). A case report. Rev Cubana Endocrinol [online]. 2002, vol.13, n.3, pp. 0-0. ISSN 1561-2953.

A patient with Turner stigmas and karyotype 45,X/46,XX with initial diagnosis of Turner's syndrome is presented. Clitoridectomy was performed due to hypertrophy of the clitoris when she was 8. She was reevaluated at 6 and karyotype was made by using G bands techniques (GTG) with chromosomic formula of 45,X/46,X, (marker chromosome -mar); such marker gave the impression of a deletion of chromosome X from Xq13 ®Xq ter and Xp22 ®Xp ter. This study was completed with the molecular technique of polymerase chain reaction (PCR) and the SRY gene was identified in the marker chromosome. The patient underwent minimum access surgery and it was proved the absence of uterus and tube on the right side with no gonad and a rudimentary testis on the opposite side. Mixed gonodal dysgenesis was diagnosed.

Keywords : DYSGENESIS, MIXED; TURNER'S SYNDROME; PSEUDOHERMAPHRODITISM; MALE; FEMALE.