46,XY 성발달 이상
XY 염색체를 가진 사람에게서 생식선 또는 생식기 발달이 비정형적으로 나타나는 질환으로, SRD5A2, HSD17B3, NR5A1, MAP3K1, DHH, WT1, CYP11A1, LHCGR 등의 유전자 변이에 의해 발생합니다.
진단이 달라지는 점
진단 결과는 호르몬 치료, 생식 능력 상담, 그리고 이형성 생식선에 Y 염색체 유래 물질이 있는 경우 생식선 종양 위험 평가에 활용됩니다.
다른 명칭
46, XY disorder of sexual development; 46, XY DSD; 46, XY female; 46,XY disorder of sex development; XY female
관련 하위 유형 34개 포함 ↓하위 유형 숨기기 ↑
- 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
