Problemi speciali
Sindrome di Rokitansky e dintorni: cosa deve sapere il pediatra
Mayer-Rokitansky-Küster-Hauser syndrome: what paediatricians need to know
Maria Chiara Pellegri1, Francesca Corrias1, Matteo Bramuzzo2, Federica Scrimin2, Elisabetta Cattaruzzi2, Gianluca Tornese2, Elena Faleschini2, Alessandro Ventura1,2
1Università di Trieste
2IRCSS Materno-Infantile “Burlo Garofolo”, Trieste
Marzo 2018 - pagg. 165 -171
Abstract
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) is a rare congenital disorder characterised
by variable aplasia of the uterus and the upper part of the vagina in women with
a normal 46,XX karyotype and normal ovarian function. It may be isolated (type I) but it
is more frequently associated with other congenital defects (type II), mainly renal and vertebral
defects. Exact etiology remains unknown. Clinical presentation is primary amenorrhoea
with normal development of secondary sexual characteristics and normal
external genitalia. Ultrasound and MRI allow accurate identification of MRKHS. Diagnosis
may be delayed even in cases with known renal or vertebral malformation and causes
important psychological distress. The creation of a neovagina allows sexual intercourse;
fertility is obviously compromised.
Parole chiave
Suggerite dall'AI
Classificazione MeSH
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Corrispondenza: mariachiara.pellegrin@gmail.com