46,XY sex reversal 11
MONDO:8000015Mondo
Findings
No curated finding names 46,XY sex reversal 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal male internal genitalia morphologyHPOHP:0000022
- Very frequent (80% to 99% of cases)
- Abnormal morphology of female internal genitaliaHPOHP:0000008
- Very frequent (80% to 99% of cases)
- Absent testisHPOHP:0010469
- Very frequent (80% to 99% of cases)
- AgonadismHPOHP:0008633
- Very frequent (80% to 99% of cases)
- Ambiguous genitaliaHPOHP:0000062
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the testesHPOHP:0010468
- Very frequent (80% to 99% of cases)
- Decreased fertilityHPOHP:0000144
- Very frequent (80% to 99% of cases)
- Decreased testicular sizeHPOHP:0008734
- Very frequent (80% to 99% of cases)
- Hypoplasia of penisHPOHP:0008736
- Very frequent (80% to 99% of cases)
- Male pseudohermaphroditismHPOHP:0000037
- Very frequent (80% to 99% of cases)
- Gonadal dysgenesis with female appearance, maleHPOHP:0008723
- 7 of 9 reported patients · Female
- Abnormality of the faceHPOHP:0000271
- Occasional (5% to 29% of cases)
Show the remaining 8
- Primary amenorrheaHPOHP:0000786
- 2 of 9 reported patients · Female
- Urogenital sinus anomalyHPOHP:0100779
- 1 of 9 reported patients · Female
- Absence of pubertal developmentHPOHP:0008197
- Aplasia of the uterusHPOHP:0000151
- Female
- Decreased circulating antimullerian hormone circulationHPOHP:0031103
- Decreased serum testosterone concentrationHPOHP:0040171
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- DHX37HGNC:17210
- Strong · Ambry Genetics · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
8 names
Resolves to: 46,XY sex reversal 11
- Also called
- 46, XY sex reversal 11embryonic testicular regression syndromeETRSSRXY11testicular regression syndromeTRSvanishing testes syndromevanishing testis syndrome