| Item | Evidence-based details | Key sources (pqac ids) |
|---|---|---|
| Disease names / synonyms | 46,XX testicular disorder of sex development; 46,XX testicular DSD; 46,XX male syndrome; XX male syndrome; 46,XX testicular difference of sex development | (pqac-00000003, pqac-00000004, pqac-00000007) |
| Epidemiology | Rare condition with reported incidence about 1:20,000-25,000 male newborns; estimated to account for ~2% of male infertility. A pediatric testicular/ovotesticular DSD series cited ~1:100,000 births for the broader childhood TDSD/OTDSD grouping | (pqac-00000002, pqac-00000004, pqac-00000009, pqac-00000006) |
| SRY-positive vs SRY-negative | Literature commonly reports ~80-90% SRY-positive and ~10-20% SRY-negative among 46,XX testicular DSD cases. In one systematic review, SRY was detected in 51/57 cases, usually on Xp. In a pediatric 52-case TDSD/OTDSD series, SRY-negative cases predominated; only 4/52 had SRY in peripheral blood and 0/8 tissue samples were SRY-positive | (pqac-00000001, pqac-00000003, pqac-00000004, pqac-00000006, pqac-00000008) |
| Typical age / presentation | About 80-90% have typical male external genitalia at birth and are often diagnosed after puberty or in adulthood during infertility workup, hypogonadism, or gynecomastia evaluation. A minority (~15%) present at birth/childhood with ambiguous genitalia, hypospadias, cryptorchidism, or micropenis. In the pediatric single-center cohort, median age at first presentation was 18 months | (pqac-00000001, pqac-00000004, pqac-00000005, pqac-00000006, pqac-00000009) |
| Typical phenotype | Common findings include normal male phenotype or variable undervirilization, small testes/microorchidism, azoospermia/infertility, hypergonadotropic hypogonadism, gynecomastia, cryptorchidism, hypospadias, and occasionally residual Müllerian structures or prostatic utricle in SRY-negative cases | (pqac-00000001, pqac-00000003, pqac-00000004, pqac-00000008) |
| Key management pearls | Recommended evaluation includes careful genital exam, semen analysis, endocrine testing, karyotype, SRY testing by PCR/FISH, and abdominal ultrasound to assess Müllerian remnants; gonadal biopsy may help define gonadal tissue in selected SRY-negative cases. Genetic/endocrine consultation is recommended. TESE is generally not recommended; fertility options include donor-sperm IVF or adoption. Long-term follow-up should monitor pubertal progression, testicular failure/hypergonadotropic hypogonadism, tumor-risk markers, and individualized gender/psychosocial outcomes | (pqac-00000000, pqac-00000004, pqac-00000008, pqac-00000006, pqac-00000019) |


*Table: This table provides a compact evidence-based summary of names, epidemiology, SRY status distribution, presentation patterns, and practical management points for 46,XX testicular DSD. It is useful as a quick reference before the full narrative report.*