Resumo

ESPINOSA REYES, Tania M.; VALDES GOMEZ, Wendy  e  PEREZ LOPEZ, Henry. Sexual mosaicism. Rev Cubana Endocrinol [online]. 2019, vol.30, n.3  Epub 10-Jun-2020. ISSN 1561-2953.

Sexual development´s disorders are congenital states in which the development of the chromosomal, anatomic or gonadal sex is atypical. Since this is a very rare case, we consider it as of interests for presentation. It is presented a teenager, 15-years-old male, with a history of atypical genitalia at birth, development of short height and Turner’s stigmas, and spontaneous and normal puberty. The genetic studies identified as chromosomal sex a mosaic 45,X/46,XY/47XYY and male as molecular sex. He was socially registered as a male, he had a genital reconstruction surgery and he was under treatment with biosynthetic growth hormone that he currently maintains. The clinical evolution has been favourable with adequate social integration. In the presence of atypical genitalia at birth, it is needed a multidisciplinary management. The etiological diagnosis of disorders of sexual differentiation requires a high level of medical expertise. A comprehensive treatment in these patients guarantees them a good quality of life.

Palavras-chave : sex development´s disorder; mosaicism; ambiguous genitalia.

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