46,XY-variasjoner i kjønnsutvikling
Tilstander hos personer med XY-kromosomer der utviklingen av kjønnskjertlene eller kjønnsorganene er atypisk, forårsaket av varianter i gener som SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 og LHCGR.
Hva en diagnose endrer
En diagnose gir grunnlag for hormonbehandling, fertilitetsveiledning og, dersom dysgenetiske kjønnskjertler inneholder Y-materiale, vurdering av risiko for kjønnskjertelsvulster.
Også kjent som
46, XY disorder of sexual development; 46, XY DSD; 46, XY female; 46,XY disorder of sex development; XY female
Inkluderer 34 beslektede undertyper ↓Skjul undertyper ↑
- 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
