Diagnosis | Prevalence (as a cause of atypical genital appearance) | Risk of adrenal crisis | Projected gender identity and fertility | Risk of gonadal tumor | References |
46,XX DSD | |||||
CAH* | Common (1:15,000) | Yes (in most common forms)¶ | Female; fertile (for 46,XX types of CAH) | Yes (TART or OART)Δ | [1-6] |
Mixed gonadal dysgenesis (45,X/46,XY mosaicism with atypical genital appearance) | Rare | No | Usually male; infertile | High◊ | [7,8,9] |
46,XY DSD | |||||
5-alpha-reductase type 2 deficiency | Very rare | No | Usually male; fertile | Low◊ | [10-12] |
17-beta-hydroxysteroid dehydrogenase type 3 deficiency | Extremely rare | No | Usually male | Intermediate◊ | [10,12,13] |
Disorders of incomplete or unknown androgen action:
| Very rare | No | Unknown; infertile | Nonscrotal gonads – Intermediate◊ Scrotal gonads – Low◊ | [9,14-16] |
46,XY with severe genital anomaly ("nonhormonal" DSD):
| Rare | No | Male | Low◊ | [17-19] |
Ovotesticular DSD§ | Extremely rare | No | Variable | Low | [3,9] |
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