How rare is 46,XX testicular disorder of sex development?

46,XX testicular disorder of sex development is classified as uncommon. The estimated prevalence is approximately 1-9 in 100,000. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is 46,XX testicular disorder of sex development diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for 46,XX testicular disorder of sex development?

Information about treatment is currently limited for this condition.

What complications can arise from 46,XX testicular disorder of sex development?

Complications from 46,XX testicular disorder of sex development can include issues related to hormone levels, particularly testosterone deficiency. This may affect physical development and could lead to challenges in puberty. Regular check-ups with a healthcare provider can help monitor these aspects.

How does 46,XX testicular disorder of sex development affect daily life?

Living with 46,XX testicular disorder of sex development can vary from person to person. Some may need to manage hormone levels and physical development, which can influence daily activities and self-esteem. Support from family and healthcare professionals is important for navigating these challenges.

What is the life expectancy for someone with 46,XX testicular disorder of sex development?

The life expectancy for individuals with 46,XX testicular disorder of sex development is not well-documented in the available information. However, many people with this condition can lead healthy lives with appropriate medical care and support. Regular health check-ups are essential for monitoring overall well-being.

What should families consider for future family planning with 46,XX testicular disorder of sex development?

Families considering future family planning with 46,XX testicular disorder of sex development may want to discuss reproductive options with a healthcare provider. Since this condition can affect hormone levels and reproductive health, understanding these aspects is crucial for making informed decisions. Genetic counseling may also be beneficial.

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46,XX testicular disorder of sex development - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

46,XX testicular disorder of sex development

MONDO:0100249

Also known as:46,XX testicular DSD46,XX testicular differences of sex development46,XX testicular disorders of Sex development

Find Clinical TrialsTrials

Overview

46,XX testicular disorder of sex development (46,XX testicular DSD) is characterized by male external genitalia, ranging from normal to ambiguous with associated testosterone deficiency.

OnsetCONGENITAL

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, and Decreased testicular size.

Organ System	Phenotype Count	Example Features
Hormones	1	Male hypogonadism

Age of onset: at birth.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No consensus clinical diagnostic criteria for nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) have been published. However, algorithms have been developed for the evaluation and diagnosis of DSD, including nonsyndromic 46,XX testicular DSD .

Suggestive Findings

Nonsyndromic 46,XX testicular DSD should be considered in individuals with the following clinical, supportive laboratory, and imaging findings.

Clinical findings

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for 46,XX testicular disorder of sex development. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) have been published. Evaluations Following Initial Diagnosis To establish the extent of the condition and needs in an individual diagnosed with nonsyndromic 46,XX testicular DSD, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 7. Recommended Surveillance for Individuals with Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development

System/Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include procedural interventions. Research is primarily sponsored by academic and government institutions.

17 publications have been identified in PubMed for 46,XX testicular disorder of sex development. Research spans Case Report / Case Series (41%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (18%).

Research Type	Count	% of Total
Patient case studies	7

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:393

GARD

Genetic and Rare Diseases Info Center

GARD:399

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about 46,XX testicular disorder of sex development

46,XX testicular disorder of sex development is a rare condition where people have male external genitalia. In many cases, the external appearance can range from typically male to ambiguous, meaning there may be some variation in how the genitalia appear. This condition is also associated with a lower than typical level of testosterone, a hormone that plays a vital role in male development. The condition is sometimes referred to by several names such as De la Chapelle syndrome, XX male syndrome, and Sry-positive among others. Although these names highlight the genetic aspects, the primary description focuses on the physical characteristics and hormone levels seen in people with this condition. This summary uses the information available from trusted sources such as the definition provided in medical references.

People with this condition typically have male external genitalia, which might appear normal or somewhat ambiguous. A key characteristic is testosterone deficiency, which means that the hormone levels may be lower than expected. Beyond these features, detailed information about other symptoms and signs is not available in the provided sources.

Information about causes is currently limited for this condition. Associated genes include NR5A1, SOX9.

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System/Concern	Evaluation	Comment
Constitutional	Measurement of length/height	To assess for short stature
Endocrinology	Measurement of LH, FSH, total testosterone levels	In those age 10 yrs Assessment of libido, energy, erectile function, acne, breast tenderness, presence of gynecomastia
Urology	Physical exam for evidence of undervirilization	Incl assessment of length width of phallus; location of urethral meatus; location of gonads through palpation size measurement w/orchidometer Digital rectal exam measurement of PSA1
Psychology	Assessment of mood gender identity	By mental health professional Genetic
counseling	By genetics professionals2	To inform affected persons their families re nature, MOI, implications of nonsyndromic 46,XX testicular DSD to facilitate medical personal decision making Individual family support/ resources
Treatment of Manifestations in Individuals with Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development Manifestation/Concern	Treatment	Considerations/Other
Short stature	Growth hormone therapy may be considered.	Referral to endocrinologist recommended Low or absent serum testosterone levels1
Gynecomastia	Reduction mammoplasty may be considered if gynecomastia is causing psychological distress.	Regression of gynecomastia may occur w/testosterone replacement therapy.
Osteopenia	Standard treatment per endocrinologist	May incl calcium, exercise, vitamin D, biphosphonates, or calcitonin
Undervirilization	Standard therapy per urologist	May incl orchidopexy /or hypospadias repair Psychological
distress	Referral to mental health professional	Sensitivity is necessary when conveying information to persons w/nonsyndromic 46,XX testicular DSD about genetic cause of the disorder assoc sterility.

Kisho

46,XX testicular disorder of sex development

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Prenatal care for Disorders/Differences of Sex Development: 10-years look back in an expert-center.

46,XX testicular disorder of sex development

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is 46,XX testicular disorder of sex development?

What are the symptoms of 46,XX testicular disorder of sex development?

What causes 46,XX testicular disorder of sex development?

How rare is 46,XX testicular disorder of sex development?

How is 46,XX testicular disorder of sex development diagnosed?

Are there treatments for 46,XX testicular disorder of sex development?

What complications can arise from 46,XX testicular disorder of sex development?

How does 46,XX testicular disorder of sex development affect daily life?

What is the life expectancy for someone with 46,XX testicular disorder of sex development?

What should families consider for future family planning with 46,XX testicular disorder of sex development?

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Prenatal care for Disorders/Differences of Sex Development: 10-years look back in an expert-center.