Note – this was previously known as ‘Disorders of Sexual Development’

Differences in Sexual Development (DSD) are a group of conditions where there is a discrepancy between the external genitals and the internal genital or chromosomal sex. These conditions are characterized by atypical development of chromosomal, gonadal, or anatomical sex and are present from birth.

Is DSD the same as Intersex?

DSD is also known as intersex, and refers to when a person’s body develops differently from how it is expected to. This can involve differences in chromosomes, reproductive organs, or other body parts. The word "intersex" is often used instead of DSD because it is less medical and doesn’t make these differences sound like a problem. It helps to think of intersex as a natural part of how people are all different, it’s not just about bodies, but also about respecting everyone’s unique identity and rights.

What are the types of DSD?

1. Chromosomal DSD:
   • 45,XO (Turner Syndrome): Ovaries, vulva and vagina but with a single X chromosome.
   • 47,XXY (Klinefelter Syndrome): Penis and testicles but with an extra X chromosome.
2. 46,XX DSD:
   • Congenital Adrenal Hyperplasia (CAH): A genetic disorder causing overproduction of androgens, leading to masculinization.
   • Androgen Insensitivity Syndrome: The body can’t respond properly to testosterone sex hormones, preventing full development of the penis and testicles despite having an XY chromosome pattern.
3. 46,XY DSD:
   • 5-alpha Reductase Deficiency: A condition where the body can’t convert testosterone into dihydrotestosterone, affecting penile and testicular development.
   • Partial Androgen Insensitivity Syndrome: Results in varying degrees of undervirilization in XY individuals.

What causes DSD?

• Genetic Mutations: Changes or mutations in genes responsible for sexual development.
• Hormonal Imbalances: Disruptions in the hormones responsible for sexual development.

Diagnosis

• Physical Examination
• Chromosomal Analysis
• Hormone Tests
• Genetic Testing
• Imaging Tests

Management

• Medical Treatments: Hormonal therapies to ensure sufficient and effective hormone levels.
• Surgical Treatments: Surgeries to reconstruct genitalia or correct anatomical issues.
• Psychological Support: Support for individuals and families to address emotional and social aspects.

How is DSD diagnosed?

DSD diagnosis involves many different factors. Some of these are simple blood tests and some are more detailed. Excluding DSD can involve a few f the steps, but making a formal diagnosis requires combining all of the results by a specialist.

1. Physical Examination: A thorough physical exam is crucial. This includes looking at the external genitalia to check for any ambiguity or features that don’t fit typical patterns.
2. Medical History: The medical history, including family history, is reviewed to identify any hereditary patterns or potential causes.
3. Chromosomal Analysis: Karyotyping, a test that examines chromosomes in a sample of cells, can reveal chromosomal abnormalities that might cause DSD.
4. Hormone Tests: Blood and urine tests can determine the levels of hormones like testosterone, estrogen, and others that play a role in sexual development.
5. Imaging Tests: Ultrasound, MRI, or CT scans can be used to visualize the internal reproductive organs.
6. Genetic Testing: This helps identify specific genetic mutations associated with DSD but should be undertaken after specialist counselling and assessment.
7. Specialist Consultation: Endocrinologists, geneticists, urologists, or other specialists may be involved in diagnosing and managing DSD.
8. Psychosocial Support: Psychological support and counseling for the individual and family are important aspects of care.

How much does testing cost?

Hormone tests can be arranged for you and the costs vary depending on where you live. Scans can be arranged at a private hospital close to you and we can give you a referral letter if needed.

In the UK we can arrange a simple chromosome test for £466.00. This will simply test to see which sex chromosomes a person has – XX, XY or another variation.

How does DSD differ from Gender Incongruence?

The confusion between DSD and gender incongruence often arises due to a misunderstanding of the differences between biological sex, gender identity, and the interplay between genetics, anatomy, and personal identity.

Understanding the distinction between DSD and gender incongruence is crucial for providing appropriate support, medical care, and respecting the rights and identities of individuals in each group. It’s important to approach these topics with sensitivity and an acknowledgment of their complexity.

1. Biological vs. Psychological Concepts:
   • DSD: This is primarily a biological concept, referring to conditions involving atypical development of chromosomal, gonadal, or anatomical sex. DSDs are about variations in physical characteristics, including chromosomes, hormone levels, and reproductive/sexual anatomy.
   • Gender Incongruence: This is a psychological concept, referring to a condition where a person’s gender identity (their personal sense of their gender) does not align with the sex they were assigned at birth. It’s more about identity and self-perception rather than physical characteristics.
2. Visibility vs. Internal Experience:
   • DSD: These conditions are often identifiable through physical and genetic appearances.
   • Gender Incongruence: This is about an individual’s internal experience and self-identification, which might not be immediately visible or physically measurable.
3. Medical vs. Social Understanding:
   • DSD: The medical community often handles DSD as a medical condition requiring diagnosis and possibly treatment.
   • Gender Incongruence: Recognized as a part of the spectrum of human diversity. The focus is more on acceptance, support, and, if desired by the individual, gender-affirming treatment.
4. Misconceptions and Overlaps:
   • Sometimes, people with DSD may experience gender incongruence, but having a DSD does not automatically mean that a person will experience gender incongruence.
   • There can be a misconception that any variance in physical sexual characteristics (like those seen in DSDs) must naturally lead to a mismatch in gender identity, which is not always the case.
5. Historical and Societal Influences:
   • Historical medical practices, societal norms, and media portrayals often conflate or oversimplify these complex issues, leading to misunderstanding and confusion.

Can I have gender-affirming care if I am Intersex?

The way one should approach gender-affirming treatment in someone who is intersex, is exactly the same as anyone else. The aim of gender affirming care is to give you the hormone profile that most closely matches your identity, and you can do this regardless of the gonads you possess or the hormones your body produces.

Further Reading

Disorders of Sexual Differentiation, Disorders of sexual differentiation program UCSF Pediatric Urology. UCSF Urology