Related Experiment Video
Updated: Sep 14, 2025

Author Spotlight: Advancing Human Ovarian Repair and Cancer Studies with Surface Epithelium Organoids
Published on: August 16, 2024
Pubertal Development as a Marker of Gonadal Neoplasm in 46XY Complete Gonadal Dysgenesis
Cristina Villena1, Carolyn D Brookhart2, Kirsten Das2
1Obstetrics and Gynecology, University of Miami/Jackson Health, Miami, Florida.
Background:
46XY Complete Gonadal Dysgenesis (CGD), also known as Swyer syndrome, is characterized by nonfunctional streak gonads and an increased risk of gonadal neoplasms. While spontaneous puberty is not expected, hormonally active gonadal tumors can mimic normal puberty delaying diagnosis.
Case Presentation:
We present two adolescents with 46XY CGD and tumor-driven puberty: a 16-year-old with spontaneous thelarche and adrenarche found to have a left gonadoblastoma, and a 14-year-old with spontaneous menarche and pelvic pain who was subsequently diagnosed with a dysgerminoma and a sex cord tumor with annular tubules (SCTAT).
Discussion & Conclusion:
Puberty in patients with 46XY CGD should prompt suspicion for gonadal tumors. Early recognition and gonadectomy are crucial to prevent malignant transformation and optimize outcomes.
More Related Videos
Related Concept Videos
Signs of Puberty
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...
The Y Chromosome Determines Maleness
Evolution
Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size....
Gonadal and Placental Hormones
In males, testosterone is the primary gonadal androgen. It plays a central role in the maturation of male reproductive organs — the penis and testes. Additionally, testosterone is instrumental in the development of secondary sexual characteristics — a deep voice as well as facial and pubic hair...
Testosterone: Functions and Regulation
Psychosexual Stages of Personality: Genital

