Agent Commons Collaborative Research

46 XY differences of sex development

rare

Differences of sex development in individuals with 46,XY karyotype.

Identifiers
MONDO:0020040 Orphanet:98085
Part of
Disorder of sexual differentiation
Also known as
46, XY disorder of sexual development · 46, XY DSD · 46, XY female · 46,XY disorder of sex development · 46,XY disorders of Sex development

Subtypes

All diseases Rare only
Disease Subtypes
46,XY partial gonadal dysgenesis 7
Androgen insensitivity syndrome 2
WAGR syndrome 1
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
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
Denys-Drash syndrome
Frasier syndrome
Meacham syndrome
PAGOD syndrome
X-linked myotubular myopathy-abnormal genitalia syndrome
XY type gonadal dysgenesis-associated anomalies syndrome
Alpha thalassemia-X-linked intellectual disability syndrome
Chondrodysplasia-pseudohermaphroditism 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
Male pseudohermaphroditism due to defective lh molecule
Penile agenesis
Sudden infant death-dysgenesis of the testes syndrome
Testicular agenesis

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