[The mixed gonadal dysgenesis. Diagnostic criteria and surgical treatment].
The Mixed Gonadal Dysgenesis represents the 7.6% of all our patients with intersexual states. We report 14 patients who present Mixed Gonadal Dysgenesis. We have studied: diagnosis age; external genitalia description; sex assigned in birth and if has changed; the karyotype; sex chromatine; hormonal study; genitography; internal genitalia and internal Mullerians ducts structures; gonadal histologycal study; surgical treatment and hormonal treatment. The results show that 50% of the cases presents a 46XY karyotype and the other 50% mosaicisme 45XO/46XY. The histological study is very distinctive. A vulvovagynoplasty and clitoroplasty was made in all the cases. Four patients must follow an hormonal treatment after reaching puberal age. Summing up, with patients having ambiguous genitalia we can suspect it consists of a Mixed Gonadal Dysgenesis. The diagnosis must be precocious. And this diagnosis will be based in an ambiguous genitalia, with a karyotype 46XY or 45XO/46XY, the persistence of the internal Müllerian duct structures, and the histological study with a dysgenetic testis. These patients should be raised as females because they can obtain a good morphological and functional development like a normal female.
Blanco
J A
JA
Servicio de Cirugía Pediátrica del H. Universitari, Germans Trias i Pujol de Badalona.
Martínez-Mora
J
J
Granada
M
M
Toran
N
N
Isnard
R M
RM
Castellví
A
A
Casasa
J M
JM
D002675:Child, Preschool; D003131:Combined Modality Therapy; D005260:Female; D005783:Gender Identity; D005835:Genitalia / Q000601:surgery; D006059:Gonadal Dysgenesis / Q000188:drug therapy* / Q000601:surgery*; D012739:Gonadal Steroid Hormones / Q000627:therapeutic use*; D018238:Gonadoblastoma / Q000473:pathology / Q000601:surgery; D006801:Humans; D007223:Infant; D007621:Karyotyping
D012739:Gonadal Steroid Hormones