scholarly journals AS PECULIARIDADES DA DISGENESIA GONADAL MISTA (46, XY/45,X): UMA REVISÃO DA LITERATURA

2021 ◽  
Vol 2 (9) ◽  
pp. e29724
Author(s):  
Giulia Pietro Biasi ◽  
Jonas Hantt Corrêa Lima ◽  
Thaís Malickovski Rodrigues ◽  
Maria Eduarda Conte Gripa ◽  
Gabriele Arbugeri Menegotto ◽  
...  
Keyword(s):  
Gonadal Dysgenesis ◽  
Mixed Gonadal Dysgenesis

Disgenesia Gonadal Mista é um distúrbio do desenvolvimento sexual do cromossomo sexual, comumente está relacionada ao mosaicismo cromossômico dos cariótipos 45,X/46,XY, além de apresentar gônadas digenéticas e uma anatomia reprodutiva tanto interna quanto externa mutáveis. Este trabalho tem por objetivo revisar a literatura sobre pacientes masculinos pediátricos portadores de Disgenesia Gonadal Mista. Revisão de literatura realizada por buscas em artigos relevantes ao tema nas plataformas digitais PubMed e Scielo, com o uso da palavra-chave: “mixed gonadal dysgenesis”.    

MIXED GONADAL DYSGENESIS — MALE HERMAPHRODITISM WITH 46, XY/45, XO/46, X DIC Y MOSAICISM

1974 ◽  
Vol 77 (1_Suppl) ◽  
pp. S47
Author(s):  
H. Cramer ◽  
R. Buchholz ◽  
E. Daume ◽  
H. Kalbfleisch ◽  
G. Sturm
Keyword(s):  
Gonadal Dysgenesis ◽  
Mixed Gonadal Dysgenesis

Mixed gonadal dysgenesis, pathogensis, and management

1979 ◽  
Vol 14 (3) ◽  
pp. 287-300 ◽  
Author(s):  
Patricia K. Donahoe ◽  
John D. Crawford ◽  
W. Hardy Hendren
Keyword(s):  
Gonadal Dysgenesis ◽  
Mixed Gonadal Dysgenesis

scholarly journals A rare case report of 46XY mixed gonadal dysgenesis

2013 ◽  
Vol 17 (7) ◽  
pp. 268 ◽  
Author(s):  
Sujoy Ghosh ◽  
Satinath Mukhopadhyay ◽  
Subhankar Chowdhury ◽  
Rakesh Arora ◽  
Saumik Datta ◽  
...  
Keyword(s):  
Case Report ◽  
Gonadal Dysgenesis ◽  
Rare Case ◽  
Mixed Gonadal Dysgenesis ◽  
Rare Case Report

Mixed Gonadal Dysgenesis

1974 ◽  
Vol 13 (9) ◽  
pp. 731-733
Author(s):  
N. Gadoth ◽  
S.W. Moses
Keyword(s):  
Gonadal Dysgenesis ◽  
Mixed Gonadal Dysgenesis

Imaging Findings of Septooptic Dysplasia and Joubert's Syndrome in A Patient with Mixed Gonadal Dysgenesis: A New Coexistence?

2020 ◽  
Author(s):  
Merter Keçeli
Keyword(s):  
Gonadal Dysgenesis ◽  
Sex Chromosome ◽  
Karyotype Analysis ◽  
Ambiguous Genitalia ◽  
Total Testosterone ◽  
Resonance Imaging ◽  
Disorders Of Sexual Development ◽  
Laboratory Findings ◽  
Mixed Gonadal Dysgenesis ◽  
Motor Retardation

AbstractAmbiguous genitalia is a common feature in most disorders of sexual development. These disorders can be evaluated within three groups: sex chromosome disorders, 46,XY disorders, and 46,XX disorders. Except for Turner's syndrome, these anomalies are not related to neurological developmental anomalies. A 6-month-old patient presenting with ambiguous genitalia had developmental and motor retardation with nystagmus. In karyotype analysis, 45,X/46,XY sequences were found, compatible with mixed gonadal dysgenesis (GD). Laboratory findings were normal except for low serum total testosterone level. The uterus and left adnexal structures were seen in imaging. There were no gonads in the labial/scrotal regions. Septooptic dysplasia (SOD) and Joubert's syndrome (JS) were detected in cranial magnetic resonance imaging. This presentation reports rare association of SOD and JS in a child with mixed GD.

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