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To describe an unusual case of 46,XY disorder of sex development presenting with severe hyperandrogenism.

April 15, 2026CureusOpen Access

Severe Hyperandrogenism Revealing a 46,XY Disorder of Sex Development Due to a Novel NR5A1 Mutation

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To describe an unusual case of 46,XY disorder of sex development presenting with severe hyperandrogenism.
Case report of a 12-year-and-6-month-old phenotypic female
Hormonal evaluation and imaging performed
Genetic testing for NR5A1 mutation conducted
Multidisciplinary management including gonadectomy and hormone therapy
Patient demonstrated severe hirsutism and symptoms of virilization
Hormonal assessment revealed hyperandrogenism and hypergonadotropic hypogonadism
Genetic testing identified a novel pathogenic NR5A1 variant
Imaging confirmed the absence of a uterus and ovaries with testicular tissue present

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Case report reveals severe hyperandrogenism in a phenotypic female with a rare genetic disorder, suggesting targeted molecular testing.

Yakine et al. (2026) studied this question.

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