Skip to content
How It Works
Explore
Resources Ask a Question
Who It's For
Patients
Decode results, prep for appointments, weigh options.
Caregivers & advocates
Carry the research load for someone you love.
Providers & clinicians
Resources for patients in your practice.
Log In Ask a Question
PubMed This is a summary of 63 peer-reviewed journal articles Updated
Genetics

Navigating 46,XX Testicular DSD

At a Glance

46,XX Testicular Difference of Sex Development (formerly 46,XX male syndrome) is a rare condition where individuals with XX chromosomes develop male physical traits. Care requires a multidisciplinary approach focusing on hormone replacement, individualized surgery, and fertility support.

Welcome to the comprehensive guide for 46,XX Testicular Difference of Sex Development (DSD), a condition formerly known as 46,XX male syndrome. Receiving this diagnosis can feel overwhelming, but you are not alone. While this condition is rare, the medical community understands it well, and there is a clear, supportive path forward for your health, well-being, and future.

This guide is designed to empower you with evidence-based information. Whether you are a parent of a newly diagnosed child or an adult who received the diagnosis during an infertility evaluation, these pages will help you understand the condition, navigate conversations with your care team, and make informed decisions about your health.

What You Will Find in This Guide

01

Understanding 46,XX Testicular DSD

Learn about 46,XX Testicular DSD (formerly 46,XX male syndrome). Understand the genetic causes, including SRY testing, hormone treatments, and family planning.

02

The Genetics of 46,XX Testicular DSD

Learn about the genetics of 46,XX Testicular DSD. Understand how testicles develop without a Y chromosome, the role of the SRY gene, and advanced testing.

03

Signs, Symptoms, and Getting an Accurate Diagnosis

Learn about the signs, symptoms, and diagnosis of 46,XX testicular difference of sex development. Understand hormone levels, karyotype tests, and SRY status.

04

Standard of Care: Hormones, Surgery, and Your Care Team

Learn about the standard of care for 46,XX testicular DSD. Understand testosterone replacement therapy (TRT), surgical options, and your care team's role.

05

Fertility, Survivorship, and Long-Term Health

Learn about fertility, survivorship, and long-term health with 46,XX Testicular DSD. Understand family building, bone health, and testosterone management.

Take this information at your own pace. The goal of this resource is not to give medical advice, but to give you the knowledge you need to be an active, confident participant in your care journey.

Common questions in this guide

What is 46,XX Testicular DSD?
46,XX Testicular Difference of Sex Development is a rare genetic condition where an individual with two X chromosomes develops typical or atypical male reproductive structures. It was formerly referred to as 46,XX male syndrome.
How is 46,XX Testicular DSD treated?
Treatment is highly individualized and managed by a multidisciplinary care team. The standard of care frequently involves Testosterone Replacement Therapy (TRT) to manage hormone levels, alongside specialized surgical options depending on the patient's unique physical development.
Does 46,XX Testicular DSD cause infertility?
Yes, individuals with this condition typically experience infertility, which is often how the diagnosis is discovered in adulthood. While biological reproduction may not be possible, specialists can help patients explore alternative paths to parenthood and family building.
What kind of doctors treat 46,XX Testicular DSD?
Because the condition affects several body systems, you will need a multidisciplinary team. A primary coordinator will usually help manage care between geneticists, endocrinologists for hormone therapies, urologists, and specialized surgeons.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is my (or my child's) specific diagnosis subtype, and what does that mean for our next steps?
  2. 2.Who will act as the primary coordinator for the multidisciplinary care team?
  3. 3.Are there local or online support groups you recommend for individuals or families navigating this diagnosis?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

This guide provides educational information about 46,XX Testicular DSD and is not a substitute for professional medical advice. Always consult your multidisciplinary care team for personalized diagnosis and treatment planning.

Get notified when new evidence is published on 46,XX testicular difference of sex development.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.