How is 46,XY disorder of sex development diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for 46,XY disorder of sex development?

Information about treatment is currently limited for this condition.

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

Complications from 46,XY disorder of sex development can vary widely depending on the specific condition involved. Some individuals may face challenges related to fertility, hormone levels, or physical development. It's important to work closely with healthcare providers to monitor and manage any potential complications.

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

Living with 46,XY disorder of sex development can impact daily life in different ways. Individuals may need to navigate medical appointments, hormone treatments, or support for emotional and social challenges. Open communication with family and healthcare providers can help in managing these aspects.

What is the long-term outlook for someone with 46,XY disorder of sex development?

The long-term outlook for individuals with 46,XY disorder of sex development can vary based on the specific condition and any associated health issues. While information on prognosis is limited, many individuals lead fulfilling lives with appropriate medical care and support. Regular follow-ups with healthcare providers are essential for monitoring health.

Are there specific specialists I should consult for 46,XY disorder of sex development?

For 46,XY disorder of sex development, it is beneficial to consult specialists such as endocrinologists, geneticists, and urologists. These professionals can provide tailored care and support based on the individual's specific needs. Coordinating care among these specialists can help ensure comprehensive management of the condition.

Kisho

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

Rare Disease

46,XY disorder of sex development

MONDO:0020040

Also known as:46,XY DSD46,XY differences of Sex development46,XY disorders of Sex development

Find Clinical TrialsTrials

Overview

Differences of sex development in individuals with 46,XY karyotype.

OnsetANTENATAL, ADULT, CONGENITAL, INFANTILE, CHILDHOOD, JUVENILE

Clinical Trials2 registered · 2 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.

No HPO annotations are available for this condition.

Age of onset: before birth, adulthood, at birth, infancy, childhood, adolescence.

GeneReviews

Clinical Guidance

Androgen insensitivity syndrome (AIS) can be subdivided into three phenotypes: complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), and mild androgen insensitivity syndrome (MAIS). Table 2. Classification of AIS Phenotypes

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 formal diagnostic criteria for identifying AIS have as yet been published; large variance is seen at the molecular, biochemical, and morphologic levels due to the extreme variation in these characteristics with the various AIS phenotypes .

Suggestive Findings

Androgen insensitivity syndrome (AIS) should be suspected in an individual with the following clinical, family history, radiologic, and supportive laboratory findings.

Clinical features

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,XY disorder of sex development. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and the needs of an individual diagnosed with androgen insensitivity syndrome, a complete evaluation by specialists in disorders of sex development (DSDs), which can include specialists in endocrinology, urology, gynecology, clinical genetics, psychology, and psychiatry , is ideal.

Treatment of Manifestations

Prognosis

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

GeneReviews

Surveillance Guidelines

Appropriate measures include the following:

Monitoring of postnatal development of genitalia that were ambiguous at birth for changes that could lead to reconsideration of the assigned sex
For individuals assigned a male sex, evaluation during puberty for signs of gynecomastia

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.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

127 publications have been identified in PubMed for 46,XY disorder of sex development. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (28%), and Epidemiology / Natural History (14%).

Research Type	Count	% of Total
Patient case studies	42	33%

Data assembled from 5 of 12 sources · Last updated Oct 3, 2026, 8:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:98085

GARD

Genetic and Rare Diseases Info Center

GARD:8538

Questions for Your Care Team

→Are any of the 2 active clinical trials 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,XY disorder of sex development

46,XY disorder of sex development refers to differences of sex development in individuals with a 46,XY karyotype. This term is used to describe various conditions where the typical process of sexual development may not follow expected patterns. It serves as an umbrella description for a range of presentations in chromosomal, gonadal, or anatomical sex development.

Information about symptoms is currently limited for this condition.

Information about causes is currently limited for this condition. Associated genes include WT1, DHH, TSPYL1, CYP11A1, HHAT.

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Type	External Genitalia (Synonyms)	Findings
CAIS	Female ("testicular feminization")	Absent OR rudimentary wolffian duct derivatives; Absence or presence of epididymides /or vas deferens; Inguinal, labial, or abdominal testes; Short blind-ending vagina; Scant OR absent pubic /OR axillary hair
PAIS	Predominantly female ("incomplete AIS")	Inguinal OR labial testes; Clitoromegaly labial fusion; Distinct urethral vaginal openings OR aurogenital sinus Ambiguous
MAIS	Male ("undervirilized male syndrome")	Impaired spermatogenesis /OR impaired pubertal virilization; Gynecomastia in puberty Complete androgen insensitivity syndrome (CAIS). Individuals with CAIS have normal female external genitalia with absence of female internal genitalia.

Kisho

46,XY disorder of sex development

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Treatment of Manifestations

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

Differential Diagnosis

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,XY disorder of sex development

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Treatment of Manifestations

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,XY disorder of sex development?

What are the symptoms of 46,XY disorder of sex development?

What causes 46,XY disorder of sex development?

How is 46,XY disorder of sex development diagnosed?

Are there treatments for 46,XY disorder of sex development?

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

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

What is the long-term outlook for someone with 46,XY disorder of sex development?

Are there specific specialists I should consult for 46,XY disorder of sex development?

Differential Diagnosis

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.