July 29, 2025JCEM Case ReportsOpen Access

Two Cases of 46,XY Differences of Sex Development Due to Gonadal Dysgenesis Associated With Novel NR5A1 Variants

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Case reports reveal two 46,XY DSD instances with gonadal dysgenesis, highlighting novel NR5A1 implications.

Two cases of 46,XY differences of sex development show novel NR5A1 variants, indicating potential new insights into the condition.
Each patient displayed primary amenorrhea alongside hormonal imbalances, with assessments confirming gonadal dysgenesis.
Genetic testing identified specific NR5A1 variants linked to the condition, guiding hormone therapy interventions.
These findings suggest the necessity for continued research into genetic factors influencing 46,XY differences of sex development.

Gialouris et al. (2025) studied this question.

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