Related Experiment Video
Updated: Jun 30, 2026

Human Ovarian Surface Epithelium Organoids as a Platform to Study Tissue Regeneration
Published on: August 16, 2024
Ovotesticular disorder of sexual development (true hermaphroditism)
Ann-Leslie Berger-Zaslav1, Lakshmi Mehta, Jessy Jacob
1Department of Pathology, Stony Brook University Hospital, Stony Brook, New York 11794-7300, USA. alberger@notes.cc.sunysb.edu
Objectives:
To determine the mechanism for the 46,XX/46,XY karyotype observed in a patient with an ovotesticular disorder of sexual development (ie, true hermaphroditism).
Methods:
Cytogenetic, molecular cytogenetic, and molecular DNA analyses were performed on the blood, skin, and left and right gonadal tissue from 2 surgical procedures. The results of these studies were used to determine whether the ovotesticular disorder of sexual development resulted from mosaicism or tetragametic chimerism.
Results:
Cytogenetic and molecular analyses revealed a mixture of 46,XX and 46,XY cells in most tissues. DNA analysis from the gonadal tissues from surgeries 1 and 2 was performed. Highly polymorphic loci from 12 different chromosomes were examined for the presence of > or = 1 paternal or maternal alleles. Three loci were highly informative: D14S544 (14q32.2), DS14S583 (14q21.3), and SE33 (6q14). Each demonstrated the presence of 2 paternal and 2 maternal alleles, indicating that the ovotesticular disorder of sexual development resulted from tetragametic chimerism.
Conclusions:
Based on the findings of the cytogenetic, molecular cytogenetic, and DNA analyses of the polymorphic markers from several different loci, it was confirmed that the patient had tetragametic chimerism. This case has assisted in increasing our knowledge of the possible mechanisms causing this rare and complex disorder.
Related Concept Videos
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...
Sex-linked Disorders
Background and Environment Affect Phenotype
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
Trichomoniasis
Sex Linked Disorders
Nondisjunction
