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This is a unique case scenario of a boy presented with genital ambiguity, followed by pubertal virilization resulting from a rare variety of CAH, namely 3-β-HSD type-2 deficiency. Biochemical evaluation for penoscrotal hypospadias and bilateral cryptorchidism along with growth acceleration and phallic enlargement revealed peripheral sexual precocity due to this unusual variety of CAH being diagnosed based on elevated precursor steroids and confirmed by genotyping. Interestingly, his karyotype was suggestive of mosaic KS that explained the presence of bilateral cryptorchidism. He underwent orchidopexy with steroid replacement that unmasked the hypergonadotropic hypogonadism attributable to KS.

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A 7-Year-Old Boy with Ambiguous Genitalia and Sexual Precocity

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  • 发表日期：

    2025年

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  • Sharmin Jahan

摘要

This is a unique case scenario of a boy presented with genital ambiguity, followed by pubertal virilization resulting from a rare variety of CAH, namely 3-β-HSD type-2 deficiency. Biochemical evaluation for penoscrotal hypospadias and bilateral cryptorchidism along with growth acceleration and phallic enlargement revealed peripheral sexual precocity due to this unusual variety of CAH being diagnosed based on elevated precursor steroids and confirmed by genotyping. Interestingly, his karyotype was suggestive of mosaic KS that explained the presence of bilateral cryptorchidism. He underwent orchidopexy with steroid replacement that unmasked the hypergonadotropic hypogonadism attributable to KS.