[Mixed gonadal dysgenesis (MGD). Description of a case].
The Authors report a case of mixed gonadal dysgenesis (DGM), with a mosaic karyotype consisting of two cell lines, one with 45 chromosomes and monosomic X (50%), the other with 46 chromosomes and one Y dicentric chromosome (50%). The patient presents a male phenotype, hypospadias (3rd degree), left cryptorchidism, hypotrophic right testis, short stature and a gonadal asymmetry.
Servizo di Endocrinologia, Ospedale Generale, Udine.
G
G
Proto
P
P
Bartolomei
A
A
Mazzolini
F
F
Grimaldi
I
I
Torossi
F
F
Bertolissi
D000328:Adult; D003456:Cryptorchidism / Q000235:genetics; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics / Q000473:pathology; D006801:Humans; D007021:Hypospadias / Q000235:genetics; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D014998:Y Chromosome / Q000648:ultrastructure
Disgenesia gonadica mista (DGM). Descrizione di un caso.