How rare is 46,XY complete gonadal dysgenesis?

46,XY complete gonadal dysgenesis is classified as not well established. The estimated prevalence is approximately Unknown. Because rare disease data can be limited, actual numbers may differ from published estimates.

How is 46,XY complete gonadal dysgenesis diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for 46,XY complete gonadal dysgenesis?

Information about treatment is currently limited for this condition.

What complications can arise from 46,XY complete gonadal dysgenesis?

People with 46,XY complete gonadal dysgenesis may face complications related to hormone levels and sexual development. Since the gonads do not develop properly, there can be issues with puberty and hormone production, which may require medical management. Regular check-ups with healthcare providers are important to monitor any potential complications.

How does 46,XY complete gonadal dysgenesis affect daily life?

Living with 46,XY complete gonadal dysgenesis can impact daily life, especially during puberty and adolescence. Individuals may need to navigate feelings about their gender identity and physical development. Support from family, friends, and healthcare professionals can help in managing these challenges.

What is the prognosis for someone with 46,XY complete gonadal dysgenesis?

The prognosis for individuals with 46,XY complete gonadal dysgenesis is not clearly defined in the available information. However, with appropriate medical care and support, many individuals can lead healthy lives. Ongoing monitoring and treatment can help manage any health concerns that arise.

What should families consider regarding family planning with 46,XY complete gonadal dysgenesis?

Families should be aware that individuals with 46,XY complete gonadal dysgenesis typically do not have functional gonads, which affects fertility. This means that natural conception is usually not possible. Families may want to explore options like adoption or assisted reproductive technologies if they wish to have children.

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46,XY complete gonadal dysgenesis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

46,XY complete gonadal dysgenesis

MONDO:0010765

Also known as:46 XY gonadal dysgenesis46, XY CGD46, XY complete gonadal dysgenesis

Overview

46,XY complete gonadal dysgenesis (46,XY CGD) is a disorder of sex development (DSD) associated with anomalies in gonadal development that result in the presence of female external and internal genitalia despite the 46,XY karyotype.

OnsetADULT, CONGENITAL, JUVENILE

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 pseudohermaphroditism, Hypogonadotropic hypogonadism, Polycystic ovaries, and Dysplastic testis.

Organ System	Phenotype Count	Example Features
Hormones	1	Hypogonadotropic hypogonadism

Age of onset: adulthood, at birth, adolescence.

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 campomelic dysplasia (CD) have been published. The diagnosis of CD (derived from the Greek for "bent limb") can usually be clearly established based on clinical and radiographic findings. Although no single clinical feature is obligatory, the radiographic features are consistent and are the most reliable diagnostic clues.

Suggestive Findings

CD should be suspected in individuals with the following clinical and radiographic features.

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 complete gonadal dysgenesis. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with campomelic dysplasia (CD), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended for those infants surviving the neonatal period. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Campomelic Dysplasia

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 5.

Recommended Surveillance for Individuals with Campomelic Dysplasia

System/Concern | Evaluation | Frequency

Kyphoscoliosis

| Clinical radiographic assessment for spinal curvature | Annually in long-term survivors

Source: GeneReviews — "Campomelic Dysplasia"

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.

No clinical trials have been registered for 46,XY complete gonadal dysgenesis.

38 publications have been identified in PubMed for 46,XY complete gonadal dysgenesis. Research spans Basic Science / Preclinical (37%), Case Report / Case Series (34%), and Review / Meta-Analysis (13%).

Research Type	Count	% of Total
Laboratory research	14	37%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 4:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:242

GARD

Genetic and Rare Diseases Info Center

GARD:5068

Questions for Your Care Team

→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 complete gonadal dysgenesis

46,XY complete gonadal dysgenesis, sometimes known as Swyer syndrome, is a disorder of sex development (DSD). In this condition, people have a typical 46,XY karyotype; however, their gonads do not develop properly. This abnormal development leads to the formation of female external and internal genitalia, even though the genetic makeup is typically associated with males. The condition arises because the gonads, which would normally develop into testes, do not form as expected. This result in a body that develops many characteristics typically seen in people with female sex development. The definition provided emphasizes the unique nature of this condition, where genetic findings do not match the usual anatomy of the reproductive system.

Information about symptoms is currently limited for this condition.

46,XY complete gonadal dysgenesis occurs due to anomalies in the development of the gonads. While the definition indicates that the gonads do not develop normally, detailed genetic factors or specific causes are not described in the provided information. Associated genes include DHH, SRY, MAP3K1, SOX9, NR0B1.

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GeneReviews

Differential Diagnosis

Differential Diagnosis in the Prenatal Period Table 2. Disorders with Prenatal Limb Bowing in the Differential Diagnosis of Campomelic Dysplasia

Gene(s)	Differential Disorder	MOI	Comment
Hypophosphatasia	AR1	COL1A1	—
COL1A2	Osteogenesis imperfecta (perinatally lethal OI or progressively deforming OI)	AD	OI is more common than CD thus a more frequent cause of bowed limbs on antenatal US exam. FGFR3
Thanatophoric dysplasia	AD	Thanatophoric dysplasia type 1 has bowed femurs.	—
RMRP	Cartilage-hair hypoplasia (See Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders.)	AR	AD = autosomal dominant; AR = autosomal recessive; CD = campomelic dysplasia; MOI = mode of inheritance; US = ultrasound 1. Perinatal and most infantile cases of hypophosphatasia are inherited in an autosomal recessive manner.

Source: GeneReviews — "Campomelic Dysplasia"

System/Concern	Evaluation	Comment
or tracheobronchomalacia	Clinical eval	—
Cervical spine instability	Lateral radiograph of cervical spine	—
Cleft palate	Eval by craniofacial team incl feeding eval	—
Risk of gonadoblastoma in 46,XY phenotypic females	Karyotype analysis	In phenotypic females to identify those w/46,XY karyotype
Clubfeet	Referral to orthopedist	—
Hearing impairment	Hearing screening	—
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of CD to facilitate medical personal decision making CD = campomelic dysplasia 1. Medical geneticist, certified genetic counselor, certified advanced genetic nurse Treatment of Manifestations Table 4.
Treatment of Manifestations in Individuals with Campomelic Dysplasia Manifestation/Concern	Treatment	Considerations/Other
Cleft palate	Care by craniofacial team surgical closure	46,XY karyotype
female genitalia	Gonadectomy because of risk of gonadoblastoma	No data available re appropriate age for this procedure Hip dislocation/
luxation	Treatment per orthopedist	—
Clubfeet	Surgical correction per orthopedist	—
Hearing impairment	Treatment per audiologist incl hearing aids	Progressive cervicothoracic
kyphoscoliosis	Surgical treatment per orthopedist/neurosurgeon	Surgery often required in childhood for those w/compromised lung function ; bracing usually not helpful Cervical spine
instability	Surgical treatment per orthopedist/neurosurgeon	Risk associated with use of anesthesia prior to imaging or surgery. If a cervical spine abnormality is identified, special care should be exercised for any surgical procedure. Surveillance Table 5.
Recommended Surveillance for Individuals with Campomelic Dysplasia System/Concern	Evaluation	Frequency
Kyphoscoliosis	Clinical radiographic assessment for spinal curvature	Annually in long-term survivors There are no known circumstances to avoid. However, in long-term survivors with cervical spine malformations, it seems reasonable to limit activities that cause extreme flexion or extension (e.g., somersaults).

Kisho

46,XY complete gonadal dysgenesis

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Kyphoscoliosis

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

Gene therapy for children with sickle cell disease approved by FDA

46,XY complete gonadal dysgenesis

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Kyphoscoliosis

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 complete gonadal dysgenesis?

What are the symptoms of 46,XY complete gonadal dysgenesis?

What causes 46,XY complete gonadal dysgenesis?

How rare is 46,XY complete gonadal dysgenesis?

How is 46,XY complete gonadal dysgenesis diagnosed?

Are there treatments for 46,XY complete gonadal dysgenesis?

What complications can arise from 46,XY complete gonadal dysgenesis?

How does 46,XY complete gonadal dysgenesis affect daily life?

What is the prognosis for someone with 46,XY complete gonadal dysgenesis?

What should families consider regarding family planning with 46,XY complete gonadal dysgenesis?

Clinical Guidance

Explore clinical features

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

Latest News & Developments

Gene therapy for children with sickle cell disease approved by FDA