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hypospadias 1, X-linked - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypospadias 1, X-linked

MONDO:0010384

Also known as:hypospadias 1, X-linked, X-linked recessiveHYSP1

Overview

GeneticsX-linked · AR (chr X)

ResearchLimited published research (4 articles)

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 always present findings: Perineal hypospadias.

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

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

AR encodes androgen receptor (920 aa). Steroid hormone receptors are ligand-activated transcription factors that regulate eukaryotic gene expression and affect cellular proliferation and differentiation in target tissues. Highest expression in Cervix Endocervix (41.1 TPM) and Cervix Ectocervix (38.5 TPM).

Hypospadias 1, X-linked is associated with mutations in the AR gene on chromosome X.

AR is classified as a druggable target (Clinically Actionable, Drug Resistance, Druggable Genome, G Protein Coupled Receptor, Nuclear Hormone Receptor, and Transcription Factor categories) with score 0.2.

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 hypospadias 1, X-linked. 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.

No clinical trials have been registered for hypospadias 1, X-linked.

4 publications have been identified in PubMed for hypospadias 1, X-linked. Research spans Review / Meta-Analysis (50%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Recent Publications

Gan L (2025). [PMID: 39779334](https://pubmed.ncbi.nlm.nih.gov/39779334/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Jiali C (2024). [PMID: 38915825](https://pubmed.ncbi.nlm.nih.gov/38915825/). *Front Genet*. [Review / Meta-Analysis]
Chen H (2024). [PMID: 39285472](https://pubmed.ncbi.nlm.nih.gov/39285472/). *Biol Sex Differ*. [Epidemiology / Natural History]
Zhang Y (2024). [PMID: 39698037](https://pubmed.ncbi.nlm.nih.gov/39698037/). *Front Endocrinol (Lausanne)*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 8:41 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:300633

GARD

Genetic and Rare Diseases Info Center

GARD:18185

Questions for Your Care Team

→Should female family members consider carrier screening for AR?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

hypospadias 1, X-linked

Overview

Clinical Presentation

Clinical Guidance

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Treatment of Manifestations

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

hypospadias 1, X-linked

Overview

Clinical Presentation

Clinical Guidance

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Treatment of Manifestations

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Therapies Under Investigation

Clinical Trials