Genital anomalies and gonadoblastoma in females with the WAGR syndrome. Carol Clericuzio,MD (1) and Kelly Trout,RN (2) (1) UNM Pediatrics, Albuquerque, NM (2) The WAGR Network, San Antonio, TX. WAGR syndrome.
Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.
Carol Clericuzio,MD (1) and Kelly Trout,RN (2)
(1) UNM Pediatrics, Albuquerque, NM
(2) The WAGR Network, San Antonio, TX
Phenotype & cytogenetics of WAGR WAGR syndrome
1 18 yo streak nl irreg nl L luteal cyst
2 18 yo small nl irreg nl
3 33 yo nl septate/dup vagina
4 17 yo nl bicornuate
5 21 mos autopsy: streak gonads bilateral gonadoblastomas
6 4 yo MRI: “absent”gonads and “absent”uterus
7 20 yo smallgonadshypopl/unicornuate
is composed of primordial germ cells intimately mixed with sex cord elements that resemble immature Sertoli and granulosa cells. The tumor cells are arranged in nests surrounded by ovarian stroma containing Leydig or lutein-type cells. In 50% of cases, there is overgrowth of germ cells with progression to dysgerminoma, the ovarian homologue of a seminoma of the testis.
Byrne & Nicholson (2002)
Catherine Luis and
her daughter Irma
Kelly Trout (co-author) and
her daughter Caroline