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GTR Home > Conditions/Phenotypes > 46,XX sex reversal 4

46,XX sex reversal 4

Synonyms
46, XX sex reversal 4; 46,XX SEX REVERSAL, SRY-NEGATIVE

Summary

Excerpted from the GeneReview: Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development
Nonsyndromic 46,XX testicular disorders/differences of sex development (DSD) are characterized by: the presence of a 46,XX karyotype; external genitalia ranging from typical male to ambiguous; two testicles; azoospermia; absence of müllerian structures; and absence of other syndromic features, such as congenital anomalies outside of the genitourinary system, learning disorders / cognitive impairment, or behavioral issues. Approximately 85% of individuals with nonsyndromic 46,XX testicular DSD present after puberty with normal pubic hair and normal penile size but small testes, gynecomastia, and sterility resulting from azoospermia. Approximately 15% of individuals with nonsyndromic 46,XX testicular DSD present at birth with ambiguous genitalia. Gender role and gender identity are reported as male. If untreated, males with 46,XX testicular DSD experience the consequences of testosterone deficiency.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Emmanuèle C Délot
Eric J Vilain
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Available tests

10 tests are in the database for this condition.

Clinical tests (10 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AD4BP, ELP, FTZ1, FTZF1, POF7, SF-1, SF1, SPGF8, SRXX4, SRXY3, hSF-1, NR5A1
    Summary: nuclear receptor subfamily 5 group A member 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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