46,XY-geslachtsontwikkelingsstoornissen
Aandoeningen bij personen met XY-chromosomen waarbij de ontwikkeling van de gonaden of de uitwendige geslachtsorganen afwijkend verloopt, veroorzaakt door varianten in genen zoals SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 en LHCGR.
Wat een diagnose verandert
Een diagnose stuurt hormoonbehandeling, fertiliteitsadvies en, wanneer dysgenetische gonaden Y-materiaal bevatten, de beoordeling van het risico op gonadale tumoren.
Ook bekend als
46, XY disorder of sexual development; 46, XY DSD; 46, XY female; 46,XY disorder of sex development; XY female
Bevat 34 gerelateerde subtypen ↓Subtypen verbergen ↑
- 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
- 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- 46,XY ovotesticular disorder of sex development
- 46,XY partial gonadal dysgenesis
- 46,XY sex reversal 10
- 46,XY sex reversal 2
- 46,XY sex reversal 3
- 46,XY sex reversal 4
- 46,XY sex reversal 6
- 46,XY sex reversal 9
- alpha thalassemia-X-linked intellectual disability syndrome
- androgen insensitivity syndrome
- chondrodysplasia-pseudohermaphroditism syndrome
- complete androgen insensitivity syndrome
- Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
- Denys-Drash syndrome
- disorder of sex development-intellectual disability syndrome
- distal monosomy 9p
- dysmorphism-short stature-deafness-disorder of sex development syndrome
- familial adrenal hypoplasia with absent pituitary luteinizing hormone
- Frasier syndrome
- male pseudohermaphroditism due to defective lh molecule
- Meacham syndrome
- PAGOD syndrome
- partial androgen insensitivity syndrome
- penile agenesis
- sudden infant death-dysgenesis of the testes syndrome
- testicular agenesis
- testicular anomalies with or without congenital heart disease
- WAGR syndrome
- Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome
- X-linked myotubular myopathy-abnormal genitalia syndrome
- XY type gonadal dysgenesis-associated anomalies syndrome
