Diferencias del desarrollo sexual 46,XY
Afecciones en personas con cromosomas XY en las que el desarrollo gonadal o genital es atípico, causadas por variantes en genes como SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1 y LHCGR.
Qué cambia un diagnóstico
El diagnóstico orienta el tratamiento hormonal, el asesoramiento sobre fertilidad y, cuando las gónadas disgenéticas contienen material del cromosoma Y, la evaluación del riesgo de tumores gonadales.
También conocida como
46, XY disorder of sexual development; 46, XY DSD; 46, XY female; 46,XY disorder of sex development; XY female
Incluye 34 subtipos relacionados ↓Ocultar subtipos ↑
- 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
