Disgenesia gonadica

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Disgenesia gonadica
Specialitàgenetica clinica
Classificazione e risorse esterne (EN)
ICD-10Q99.1
MeSHD006059
Modifica dati su Wikidata · Manuale

Il termine disgenesia gonadica viene utilizzato per indicare una serie di malattie caratterizzate da disordini multipli dello sviluppo del sistema riproduttivo[1].

In tali malattie rientrano:

  • la sindrome di Turner - le gonadi sono disgenetiche e si ha un aspetto fenotipico tipicamente femminile.
  • la sindrome di Klinefelter - le gonadi con una morfologia simile a quella testicolare presentano una disgenesia tubulare.
  • l'ermafroditismo vero - chi ne soffre ha sia tessuto testicolare sia ovarico in una stessa gonade. L'apparato sessuale esterno è ambiguo o femminile.
  • la disgenesia gonadica pura (o sindrome di Swyer) - molto difficile da diagnosticare nei neonati, il patrimonio cromosomico può essere XY o XX.
  • la disgenesia gonadica mista - è forse la disgenesia più comune. I bambini presentano un testicolo normale da un lato e una gonade disgenetica dall'altro.

Note

  1. ^ M. Sperling, Pediatric endocrinology, Elsevier Health Sciences, 2008, pp. 667–, ISBN 978-1-4160-4090-3. URL consultato il 27 ottobre 2010.
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