raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:243

46,XX gonadal dysgenesis

Synonyms: 46,XX complete gonadal dysgenesis · 46,XX ovarian dysgenesis · 46,XX pure gonadal dysgenesis · Hypergonadotropic ovarian dysgenesis · XX female gonadal dysgenesis · XX-GD

Type
Malformation syndrome
Group
Disorder
Inheritance
Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
Age of onset
Adolescent, Adult
Status
active

A rare disorder/difference of sex development characterized by a primary ovarian defect, either a failure of the gonads to develop or resistance to gonadotrophin stimulation which leads to premature ovarian failure (POF) in otherwise phenotypically female 46,XX individuals.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
en46,XX gonadal dysgenesis46,XX complete gonadal dysgenesis · 46,XX ovarian dysgenesis · 46,XX pure gonadal dysgenesis · Hypergonadotropic ovarian dysgenesis · XX female gonadal dysgenesis · XX-GD
frDysgénésie gonadique 46,XXDysgénésie gonadique complète 46,XX · Dysgénésie gonadique de phénotype féminin · Dysgénésie gonadique pure 46,XX · Dysgénésie ovarienne 46,XX · Dysgénésie ovarienne hypergonadotrope · XX-GD
deGonadendysgenesie, 46, XX-Typ46,XX reine Gonadendysgenesie · 46,XX-Gonadendysgenesie, vollständige · Ovarialdysgenesie, hypergonadotrope · XX Gonadendysgenesie, weibliche · XX-GD
esDisgenesia gonadal 46,XXDisgenesia gonadal completa 46,XX · Disgenesia gonadal femenina XX · Disgenesia gonadal pura 46,XX · Disgenesia ovárica 46,XX · Disgenesia ovárica hipergonadotrópica · XX-GD
itDisgenesia gonadica 46,XXDisgenesia gonadica completa 46,XX · Disgenesia gonadica nelle femmine XX · Disgenesia gonadica pura 46,XX · Disgenesia ipergonadotropica delle ovaie · Disgenesia ovarica 46,XX · XX-GD
nl46,XX gonadale dysgenesie46,XX complete gonadale dysgenesie · 46,XX ovariële dysgenesie · 46,XX zuivere gonadale dysgenesie · Hypergonadotrope ovariële dysgenesie · XX vrouwelijke gonadale dysgenesie · XX-GD
ptDisgenesia gonadal 46,XXDisgenésia gonadal completa 46,XX · Disgenésia gonadal feminina XX · Disgenésia gonadal pura 46,XX · Disgenésia ovárica 46,XX · Disgenésia ovárica hipergonadotrópica · XX-GD
plDysgenezja gonad 46,XX46,XX całkowita dysgenezja gonad · 46,XX czysta dysgenezja gonad · 46,XX dysgenezja jajników · FSH-RO · Hipergonadotropowa dysgenezja jajników · Jajniki niewrażliwe na działanie hormonu folikulotropowego · XX dysgenezja gonad żeńskich · XX-GD
cs46,XX gonadální dysgeneze46,XX kompletní gonadální dysgeneze · 46,XX ovariální dysgeneze · FSH-RO · FSH-rezistentní ovária · Hypergonadotropní ovariální dysgeneze · XX ženská gonadální dysgeneze · XX-GD · 46,XX čistá forma gonadální dysgeneze
uk46,XX дисгенезія гонад46,XX повна дисгенезія гонад · 46,XX дисгенезія яєчників · 46,XX чиста дисгенезія гонад · Гіпергонадотропна дисгенезія яєчників · XX дисгенезія жіночих гонад · XX-GD
zh46,XX性腺发育不全卵泡刺激素不敏感性卵巢
tr46, XX gonadal disgeneziXX-GD · FSH-RO · 46, XX yumurtalık disgenezi · XX kadın gonadal disgenezi · 46, XX saf gonadal disgenezi · 46, XX tam gonadal disgenezi · Hipergonadotropik over disgenezisi · Foliküler uyarıcı hormona dirençli overler

Definition in:

2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM233300Evalidated
OMIM300510BTNTvalidated
OMIM614324BTNTvalidated
OMIM617442BTNTvalidated
OMIM618078BTNTvalidated
OMIM618117BTNTvalidated
OMIM618723BTNTvalidated
OMIM619665BTNTvalidated
OMIM619834BTNTvalidated
ICD-10Q99.1Especificvalidated
ICD-11LB45.1Especificvalidated
MONDO0009299Evalidated
MeSHD023961Evalidated
UMLSC0949595Evalidated
GARD5671Evalidated

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 (6):

No children.

4

Genes

12 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
FSHRDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:3969ENSG000001708201364352p16.3follicle stimulating hormone receptor7553856[PMID]_11889179[PMID]_12571157[PMID]
POLR3HDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:30349ENSG0000010041361980122q13.2RNA polymerase III subunit H30830215[PMID]
SPIDRDisease-causing germline mutation(s) (loss of function) inAssessedHGNC:28971ENSG000001648086153848q11.21scaffold protein involved in DNA repair27967308[PMID]
BMP15Disease-causing germline mutation(s) inAssessedHGNC:1068ENSG00000130385300247Xp11.22bone morphogenetic protein 1515136966[PMID]
BNC1Disease-causing germline mutation(s) inAssessedHGNC:1081ENSG0000016959460193015q25.2basonuclin zinc finger protein 130010909[PMID]
FIGLADisease-causing germline mutation(s) inAssessedHGNC:24669ENSG000001837336086972p13.3folliculogenesis specific bHLH transcription factor18499083[PMID]
MRPS22Disease-causing germline mutation(s) inAssessedHGNC:14508ENSG000001751106058103q23mitochondrial ribosomal protein S2229566152[PMID]
MSH4Disease-causing germline mutation(s) inAssessedHGNC:7327ENSG000000574686021051p31.1mutS homolog 428541421[PMID]
NR5A1Disease-causing germline mutation(s) inAssessedHGNC:7983ENSG000001369311847579q33.3nuclear receptor subfamily 5 group A member 1
NUP107Disease-causing germline mutation(s) inAssessedHGNC:29914ENSG0000011158160761712q15nucleoporin 10726485283[PMID]
PSMC3IPDisease-causing germline mutation(s) inAssessedHGNC:17928ENSG0000013147060866517q21.2PSMC3 interacting protein21963259[PMID]
ZSWIM7Disease-causing germline mutation(s) inAssessedHGNC:26993ENSG0000021494161453517p12zinc finger SWIM-type containing 734402903[PMID]
5

Prevalence and incidence

2 records
TypeClassValueAreaQualificationValidationSource
Point prevalenceUnknown—WorldwideClass onlyValidated8178824[PMID]_16877870[PMID]_ORPHANET
Prevalence at birthUnknown—WorldwideClass onlyValidated8178824[PMID]_16877870[PMID]_ORPHANET

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

25 annotations · validated 2016-06-01
HPOTerm (as annotated by Orphanet)Diagnostic
Obligate (100%)
HP:0000133Gonadal dysgenesis
HP:0008209Premature ovarian insufficiency
Very frequent (99-80%)
HP:0009888Abnormality of secondary sexual hair
HP:0000144Decreased fertility
HP:0008214Decreased serum estradiol
HP:0000823Delayed puberty
HP:0000837Increased circulating gonadotropin level
HP:0000786Primary amenorrhea
Frequent (79-30%)
HP:0010311Aplasia/Hypoplasia of the breasts
HP:0008684Aplasia/hypoplasia of the uterus
HP:0002750Delayed skeletal maturation
HP:0000938Osteopenia
HP:0005625Osteoporosis of vertebrae
HP:0004349Reduced bone mineral density
HP:0002225Sparse pubic hair
HP:0010464Streak ovary
Occasional (29-5%)
HP:0001939Abnormality of metabolism/homeostasis
HP:0000365Hearing impairment
HP:0000869Secondary amenorrhea
HP:0004322Short stature
Very rare (<4-1%)
HP:0001166Arachnodactyly
HP:0001251Ataxia
HP:0000252Microcephaly
HP:0002206Pulmonary fibrosis
Excluded (0%)
HP:0000062Ambiguous genitalia

Run the differential on the 8 obligate / very frequent terms

Annotation source: 7553856[PMID]_9769327[PMID]_20087398[PMID]_11129329[PMID]_15136966[PMID]_21963259[PMID]_7553856[PMID]

7

Sources for this card