Symbolic representation of intersex condition with intertwined male and female symbols.

Decoding Intersex: Understanding and Navigating Ovotesticular Disorders of Sex Development

Jordan Keane in Health & Wellness December 2025 • 4 min read.

"A comprehensive guide to 46,XY ovotesticular DSD: from diagnosis and treatment options to the emotional and social challenges faced by individuals and families."

Ovotesticular disorder of sex development (OT-DSD) is a rare condition where an individual possesses both testicular and ovarian tissue. Among those with OT-DSD, the 46,XY karyotype is less common in Europe. This presents unique challenges in gender assignment, particularly in newborns, necessitating a thoughtful and multidisciplinary approach.

Decisions surrounding gender assignment in newborns with OT-DSD are complex. Considerations include diagnosis, genital appearance, surgical options, hormone therapy needs, fertility potential, and the family's views, all within the context of cultural practices. The ultimate goal is to ensure the child's well-being within the family and society.

This article aims to explore the multifaceted aspects of 46,XY OT-DSD, offering insights into diagnosis, treatment, and the critical importance of psychological support for affected individuals and their families. We will describe and comment on our multidisciplinary approach in a case of 46,XY OT-DSD.

Navigating the Diagnostic Maze: Identifying Ovotesticular DSD

Symbolic representation of intersex condition with intertwined male and female symbols.

Diagnosis often begins with the observation of ambiguous genitalia at birth, such as hypospadias (where the opening of the urethra is not at the tip of the penis) or penile curvature. Palpable gonads (testes or ovaries) may be absent. It's important to note that there are often no reported familiar, gestational, or perinatal problems. The investigation involves a series of steps.

Initial assessments typically include:

Fetal sonogram: to assess the prenatal development of the reproductive organs.
Postnatal karyotype: a genetic test to determine the chromosomal makeup (e.g., 46,XY). This analysis helps rule out mosaicism, where different cells in the body have different chromosomal compositions.
SNPs-array: a genetic test to identify any small deletions or duplications of genetic material.
hCG test: This test evaluates the response of testicular tissue to human chorionic gonadotropin (hCG), a hormone that stimulates testosterone production. Blood samples are taken before and after hCG injections to measure hormone levels.
Hormone Level Analysis: Blood tests measure levels of testosterone, free testosterone, dehydroepiandrosterone-sulphate (DHEAs), androstenedione, anti-Müllerian hormone (AMH), inhibin B, and dihydrotestosterone (DHT). These hormones play crucial roles in sexual development.
Imaging: Ultrasound and magnetic resonance imaging (MRI) are used to visualize the internal reproductive structures, such as the uterus and vagina.
Laparoscopy: A surgical procedure where a small incision is made to insert a camera and instruments to directly visualize the internal organs. This can confirm the presence of both ovarian and testicular tissue.

It's worth noting that a deletion of 1.89 Mb in the region 8p23.3 was found, being of maternal origin. The gene is not directly correlated to sexual development.

The Path Forward: Multidisciplinary Care and Support

OT-DSD presents a unique set of challenges, requiring a collaborative approach from medical professionals, psychologists, and the family. Open communication, informed decision-making, and ongoing support are essential to ensure the well-being of individuals with OT-DSD and their families.

About this Article -

This article was crafted using a human-AI hybrid and collaborative approach. AI assisted our team with initial drafting, research insights, identifying key questions, and image generation. Our human editors guided topic selection, defined the angle, structured the content, ensured factual accuracy and relevance, refined the tone, and conducted thorough editing to deliver helpful, high-quality information.See our About page for more information.

This article is based on research published under:

DOI-LINK: 10.4081/pr.2017.7085, Alternate LINK

Title: 46,Xy Ovotesticular Disorders Of Sex Development: A Therapeutic Challenge

Subject: Pediatrics

Journal: Pediatric Reports

Publisher: MDPI AG

Authors: Maria-Grazia Scarpa, Massimo Di Grazia, Gianluca Tornese

Published: 2017-12-11

Everything You Need To Know

What is 46,XY ovotesticular disorder of sex development (OT-DSD)?

46,XY ovotesticular disorder of sex development (OT-DSD) is a rare condition where an individual possesses both testicular and ovarian tissue. In the context provided, it's highlighted that this specific karyotype (46,XY) is less common in Europe. This leads to complex considerations, especially in newborns, regarding gender assignment, necessitating a multidisciplinary approach for diagnosis and care. The article explores the intricacies of this condition, covering diagnosis, treatment options, surgical interventions, and the crucial role of psychological support for individuals and their families.

How is 46,XY OT-DSD typically diagnosed in newborns and infants?

Diagnosis often starts with observing ambiguous genitalia at birth, such as hypospadias or penile curvature. Further investigation involves various assessments. Initial steps include a fetal sonogram to assess prenatal development and a postnatal karyotype to determine the chromosomal makeup. Other tests like SNPs-array, hCG tests, and hormone level analysis (measuring hormones like testosterone, AMH, and DHT) are performed. Imaging techniques such as ultrasound and MRI, along with laparoscopy, help visualize internal reproductive structures and confirm the presence of both ovarian and testicular tissues. The goal is to understand the specific presentation of OT-DSD and guide treatment decisions.

What are the key steps involved in managing 46,XY OT-DSD?

Managing 46,XY OT-DSD involves a multidisciplinary approach. It begins with a thorough diagnosis using tests like karyotype analysis and hormone level assessments. Treatment decisions revolve around factors such as genital appearance, surgical options, and hormone therapy, all of which must consider the family's views and cultural practices. A crucial aspect of care is psychological support for both the individual and their family. Open communication and informed decision-making are vital throughout the process. The ultimate objective is to ensure the well-being of the child within their family and society.

What is the role of hormone level analysis in the diagnosis of 46,XY OT-DSD?

Hormone level analysis plays a crucial role in diagnosing 46,XY OT-DSD by measuring key hormones involved in sexual development. Blood tests assess levels of testosterone, free testosterone, DHEAs, androstenedione, AMH, inhibin B, and DHT. These hormone levels provide insights into the function of the gonads (testes and ovaries) and the body's hormonal response. The results aid in understanding the extent of testicular and ovarian tissue functionality and guide treatment strategies, such as the need for hormone therapy.

Why is psychological support important for individuals and families dealing with 46,XY OT-DSD?

Psychological support is crucial for individuals and families affected by 46,XY OT-DSD due to the complex emotional and social challenges that arise. The condition can lead to stress, anxiety, and uncertainty regarding gender identity and social acceptance. Families require support to navigate difficult decisions about gender assignment and treatment options. Psychological support provides a safe space for open communication, helps manage emotional distress, and promotes informed decision-making. It also assists in fostering a supportive environment within the family and community, contributing significantly to the well-being of those affected.