A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia

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Mosaic karyotype was identified in a newborn with ambiguous genitalia and congenital hypothyroidism, leading to complex diagnostic considerations.
Genetic analysis confirmed the presence of 45,X and 46,XY karyotypes across different tissues, indicating early embryonic mosaicism.
Laboratory tests revealed a typical hormonal profile for boys during the mini-puberty period, complicating the gender identity assessment.
Interdisciplinary care is essential for management decisions and to address the risk of gonadoblastoma in affected individuals.

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Case report uncovers complex tissue mosaicism in a newborn with ambiguous genitalia, suggesting the need for advanced cytogenetic analysis.

Krzyścin et al. (2025) studied this question.

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Case report uncovers complex tissue mosaicism in a newborn with ambiguous genitalia, suggesting the need for advanced cytogenetic analysis.