Related Experiment Video
Updated: Jun 22, 2026

Exploring X Chromosomal Aberrations in Ovarian Cells by Using Fluorescence In Situ Hybridization
Published on: April 7, 2023
46 XY pure gonadal dysgenesis with gonadoblastoma and dysgerminoma
Riadh Ben Temime1, Abdellatif Chachial, Leila Attial
1Department of Gynecology and Obstetrics, Charles Nicolle Hospital, Tunis, Tunisia.
Background:
Swyer syndrome is a distinct type of pure gonadal dysgenesis characterized by a 46 XY karyotype in female phenotypic patients. It shows an abnormality in testicular differentiation. It is usually revealed by primary amenorrhea. The tumor that usually develops in Swyer syndrome is gonadoblastoma. Although gonadoblastoma is considered benign, the risk of malignant germ cell tumor development is high.
Objective:
The aim of this report is to stress on the risk of occurrence of malignant germ cell tumors on these dysgenesic gonads.
Case Report:
We present the clinical, sonographic and endocrine findings in the case of a 13 year-old phenotypic young girl with a 46 XY karyotype and gonadal dysgenesis. The patient underwent surgery for adnexal torsion. An examination of the gonads revealed gonadoblastoma associated to dysgerminoma. The treatment and the follow up are detailed.
Conclusion:
The presence of Y chromosome in the karyotype of a patient presenting a gonadal dysgenesis must lead to prophylactic bilateral gonadectomy in order to avoid a malignant transformation. Gonadectomy must be followed by a hormone replacement therapy.
Related Concept Videos
Nondisjunction
Nondisjunction
Nondisjunction
Development of the Sexual Organs in the Embryo and Fetus
Near the gonadal ridges, two duct systems are present: the mesonephric ducts (Wolffian ducts) and paramesonephric ducts (Müllerian ducts). These ducts form the basis for the male...
X and Y Chromosomes
The germline cells such as egg and sperm cells carry only half the number of chromosomes, i.e., 22 autosomes and one sex chromosome. All eggs have an X chromosome, while sperm cells can carry an X or...
Oogenesis
