raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:1772

45,X/46,XY mixed gonadal dysgenesis

Synonyms: 45,X/46,XY MGD · 45,X0/46,XY MGD · 45,X0/46,XY mixed gonadal dysgenesis

Type
Malformation syndrome
Group
Disorder
Inheritance
Not applicable, Unknown
Age of onset
All ages
Status
active

A rare disorder/difference of sex development (DSD) associated with a numerical sex chromosome abnormality resulting from Y-chromosome mosaicism and associated to abnormal gonadal development and features of Turner-Syndrome.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
en45,X/46,XY mixed gonadal dysgenesis45,X/46,XY MGD · 45,X0/46,XY MGD · 45,X0/46,XY mixed gonadal dysgenesis
frDysgénésie gonadique mixte 45,X/46,XYDysgénésie gonadique mixte 45,X0/46,XY
de45,X/46,XY-Gonadendysgenesie, gemischte45,X/46,XY MGD · 45,X0/46,XY MGD · Gonadendysgenesie, gemischte, 45,X0/46,XY
esDisgenesia gonadal mixta 45,X/46,XYDisgenesia gonadal mixta 45,X0/46,XY · MGD 45,X/46,XY · MGD 45,X0/46,XY
itDisgenesia gonadica mista 45,X/46,XYDisgenesia gonadica mista 45,X0/46,XY · MGD 45,X/46,XY · MGD 45,X0/46,XY
nl45,X/46,XY gemengde gonadale dysgenesie45,X/46,XY MGD · 45,X0/46,XY MGD · 45,X0/46,XY gemengde gonadale dysgenesie
ptDisgenesia gonadal mista 45,X/46,XY
plMieszana dysgenezja gonad z kariotypem 45,X/46,XY45,X/46,XY MDG · 45,X0/46,XY MDG · 45,X0/46,XY mieszana dysgenezja gonad
cs45,X/46,XY smíšená gonadální dysgeneze45,X/46,XY MGD · 45,X0/46,XY MGD · 45,X0/46,XY smíšená gonadální dysgeneze
uk45,X/46,XY змішана дисгенезія гонад45,X/46,XY MGD · 45,X0/46,XY МГД · 45,X0/46,XY змішаний дисгенезій гонад
zh45,X/46,XY混合性腺发育不全45,X/46,XY混合性腺发育不全
tr45,X/46,XY karma gonadal disgenezi45, X/46, XY MGD · 45, X0/46, XY MGD · 45, X0/46, XY karma gonadal disgenezi

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10Q98.7NTBTattributedvalidated
ICD-11LD2A.YNTBTindexvalidated
MONDO0015779Evalidated
MeSHD006060Evalidated
UMLSC0018055Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (4):

No children.

4

Genes

1 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
SRYCandidate gene tested inNot yet assessedHGNC:11311ENSG00000184895480000Yp11.2sex determining region Y20699606[PMID]
5

Prevalence and incidence

1 record
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyNot yet validatedORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

6

HPO phenotypes

60 annotations · validated 2015-09-28
HPOTerm (as annotated by Orphanet)Diagnostic
Very frequent (99-80%)
HP:0000028Cryptorchidism
HP:0008968Muscle hypertrophy of the lower extremities
HP:0004322Short stature
HP:0012741Unilateral cryptorchidism
Frequent (79-30%)
HP:0000812Abnormal internal genitalia
HP:0000062Ambiguous genitalia
HP:0000061Ambiguous genitalia, female
HP:0000033Ambiguous genitalia, male
HP:0000027Azoospermia
HP:0008689Bilateral cryptorchidism
HP:0000047Hypospadias
HP:0000837Increased circulating gonadotropin level
HP:0003251Male infertility
HP:0000054Micropenis
HP:0000808Penoscrotal hypospadias
HP:0100779Urogenital sinus anomaly
Occasional (29-5%)
HP:0030680Abnormal cardiovascular system morphology
HP:0000077Abnormality of the kidney
HP:0000045Abnormality of the scrotum
HP:0000729Autistic behavior
HP:0001647Bicuspid aortic valve
HP:0000048Bifid scrotum
HP:0030079Cervix cancer
HP:0000041Chordee
HP:0001680Coarctation of aorta
HP:0002967Cubitus valgus
HP:0040171Decreased serum testosterone concentration
HP:0000823Delayed puberty
HP:0002750Delayed skeletal maturation
HP:0001087Developmental glaucoma
HP:0002442Dyscalculia
HP:0000286Epicanthus
HP:0000039Epispadias
HP:0000150Gonadoblastoma
HP:0000771Gynecomastia
HP:0001822Hallux valgus
HP:0000365Hearing impairment
HP:0000218High palate
HP:0000085Horseshoe kidney
HP:0000821Hypothyroidism
HP:0001256Intellectual disability, mild
HP:0002162Low posterior hairline
HP:0000347Micrognathia
HP:0002164Nail dysplasia
HP:0000639Nystagmus
HP:0001513Obesity
HP:0012887Ovarian serous cystadenoma
HP:0012861Ovotestis
HP:0000767Pectus excavatum
HP:0000358Posteriorly rotated ears
HP:0001657Prolonged QT interval
HP:0000403Recurrent otitis media
HP:0002650Scoliosis
HP:0010044Short 4th metacarpal
HP:0010743Short metatarsal
HP:0010464Streak ovary
HP:0001649Tachycardia
HP:0000505Visual impairment
HP:0000465Webbed neck
HP:0006610Wide intermamillary distance

Run the differential on the 4 obligate / very frequent terms

Annotation source: 25860218[PMID]_22605431[PMID]_10429013[PMID]_9135271[PMID]_23457457[PMID]_23422775[PMID]_10786990[PMID]_3631129[PMID]_3595646[PMID]_25351753[PMID]_21508138[PMID]_16735607[PMID]_22605431[PMID]_2621740[PMID]_25022812[PMID]

7

Sources for this card