[Mixed gonadal dysgenesis associated with an isodicentric Y chromosome].
Authors report a case of mixed gonadal dysgenesis with a karyotype containing an isodicentric Y chromosome in mosaic form, which was diagnosed in an infant. They emphasize the necessity of the special investigations of newborn with perineoscrotal hypospadia and bilateral or unilateral maldescent testes immediately after birth. The result of accurate evaluation provides correct sex assignment and the prevention of the neoplastic degeneration of a dysgenetic gonad.
Borsod-Abaúj-Zemplén Megyei Kórház és Egyetemi Oktató Kórház Gyermek-egészségügyi Központ III. Csecsemo- és Gyermekosztály Miskolc Szentpéteri kapu 72. 3501. lsagodi@freemail.hu
László
L
Ságodi
Enikô
E
Sólyom
András
A
Tóth
Anna
A
Kékesi
Erika
E
P Tardy
Eva
E
Borbás
Teofil
T
Rétfalvi
Akos
A
Kiss
Anikó
A
Korcsmáros
D041322:Chromosomes, Human, Y; D003937:Diagnosis, Differential; D006060:Gonadal Dysgenesis, Mixed / Q000097:blood / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D012739:Gonadal Steroid Hormones / Q000097:blood; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007223:Infant; D007231:Infant, Newborn; D018404:Isochromosomes; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D011859:Radiography; D012729:Sex Chromosome Aberrations; D013737:Testis / Q000002:abnormalities*
D012739:Gonadal Steroid Hormones