46,XX ovotesticular disorder of sex development

General Information (adopted from Orphanet):

Synonyms, Signs: OVOTESTICULAR DSD, INCLUDED
46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT 46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE, INCLUDED
46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE
46,XX SEX REVERSAL, SRY-POSITIVE
OVOTESTICULAR DISORDER OF SEX DEVELOPMENT, INCLUDED
XX MALE, SRY-POSITIVE
SRXX1
True hermaphroditism
46,XX ovotesticular DSD
Number of Symptoms 14
OrphanetNr: 2138
OMIM Id: 400045
ICD-10: Q56.0
UMLs: C2748895
MeSH: D050090
MedDRA:
Snomed: 18978002

Prevalence, inheritance and age of onset:

Prevalence: > 500 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: 46,XX disorder of gonadal development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Gonadal dysgenesis of gynecological interest
 -Rare genetic disease
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0012245) Sex reversal 13 / 7739
2
 (HPO:0000062) Ambiguous genitalia Very frequent [Orphanet] 74 / 7739
3
 (HPO:0000046) Scrotal hypoplasia Very frequent [Orphanet] 54 / 7739
4
 (HPO:0010459) True hermaphroditism Very frequent [Orphanet] 5 / 7739
5
 (HPO:0000048) Bifid scrotum Very frequent [Orphanet] 36 / 7739
6
 (HPO:0000130) Abnormality of the uterus Very frequent [Orphanet] 86 / 7739
7
 (HPO:0000047) Hypospadias Very frequent [Orphanet] 250 / 7739
8
 (HPO:0000022) Abnormality of male internal genitalia Very frequent [Orphanet] 5 / 7739
9
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
10
 (HPO:0000789) Infertility Very frequent [Orphanet] 74 / 7739
11
 (HPO:0000137) Abnormality of the ovary Very frequent [Orphanet] 41 / 7739
12
 (HPO:0100779) Urogenital sinus anomaly Very frequent [Orphanet] 5 / 7739
13
 (HPO:0000045) Abnormality of the scrotum Very frequent [Orphanet] 14 / 7739
14
 (HPO:0000035) Abnormality of the testis Very frequent [Orphanet] 296 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) A disorder of sex development (DSD) is a 'congenital condition in which development of chromosomal, gonadal, or anatomic sex is atypical.' 46,XX DSD is a disorder of gonadal (ovarian) development, which may be complete or partial (Lee et ...
Clinical Description OMIM Van Niekerk and Retief (1981) found that the ovotestis was the most common gonad of the true hermaphrodite, found in 44.3% of 406 cases. The genotype of most affected individuals was 46,XX, but many had 46,XY (see 400044) ...
Molecular genetics OMIM Approximately 10% of 46,XX true hermaphrodites have the SRY gene (Nieto et al., 2004).

The mechanism of masculinization in occasional persons with an apparently normal female chromosome complement (and a Klinefelter phenotype) had been thought to ...