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Can Individuals with 47,XYY Karyotypes Exist without Male Phenotype? A Narrative Literature Review and Case Report.

Frontiers in bioscience (Scholar edition) - 5 Feb 2025

Pires Marcelo Jones, Teixeira Laura Coimbra, Angeloni Luise Longo, Heleno Julia Londero, Romano Mariana, Miranda Marcio Lopes, Vieira Tarsis Paiva, Guaragna Mara Sanches, Barros Beatriz Amstaldem, Maciel-Guerra Andréa Trevas, Guerra-Junior Gil

Abstract excerpt

BACKGROUND: The 47,XYY syndrome is a genetic condition found in about 1 in 1000 male children. The expected phenotype is male but could vary greatly. Those with genitourinary abnormalities may also present with microphallus, hypoplastic scrotum, cryptorchidism, hypospadias and macroorchidism. This study reports a child with sex ambiguity who possesses an initial 47,XYY karyotype. We also conducted a narrative...

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PMID: 40150868
DOI: 10.31083/FBS25251

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