alexa True hermaphroditism: clinical aspects and molecular studies in 16 cases.
Healthcare

Healthcare

Journal of Community Medicine & Health Education

Author(s): Damiani D, Fellous M, McElreavey K, Barbaux S, Barreto ES,

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Abstract Although true hermaphroditism (TH) accounts for less than 10\% of intersex patients, it stands as a diagnostic challenge and has allowed a better understanding of the mechanisms involved in sexual differentiation. In this paper we review the clinical and laboratory data as well as molecular biology findings on 16 TH patients followed up at the Pediatric Endocrine Unit, Instituto da Criança, Hospital das Clínicas. São Paulo University Medical School. They were of a mean age of 3 years 8 months and nine of them were black. All the patients had ambiguous external genitalia as the main complaint. The 46,XX karyotype accounted for 50\% of the cases and the ovotestis was the most frequent gonad found (59\%). In the eight TH patients with a 46,XX karyotype, the sex-determining region of the Y chromosome (SRY) was negative, posing an intriguing question about the testicular differentiation mechanisms involved in these cases. In 7/19 ovotestes, the ovarian portion of the gonad has been preserved, keeping open the possibility of fertility. The female sex option was made in 10/16 cases (62.5\%) and three patients exhibited spontaneous puberty. The mechanism through which testicular tissue develops without SRY has not yet been completely clarified, suggesting the involvement of the X chromosome as well as autosomal genes in the process.
This article was published in Eur J Endocrinol and referenced in Journal of Community Medicine & Health Education

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