Coexistence of Mayer Rokitansky Kuster Hauser syndrome and gonadal dysgenesis in a 46XX girl: A case report.

2021 ◽  
Keyword(s):  
Case Report ◽  
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 in a Mosaic 45,X / 46,X+Mar (with +SRY/TPSY/DYZ3 genes): A Rare Case Report

2021 ◽  
Vol 28 (11) ◽  
pp. S125
Author(s):  
J. Escalona ◽  
F. Heredia ◽  
A. Vigueras Smith ◽  
E. Krause Arriagada ◽  
E. Escalona
Keyword(s):  
Case Report ◽  
Gonadal Dysgenesis ◽  
Rare Case ◽  
Mixed Gonadal Dysgenesis ◽  
Rare Case Report

scholarly journals Pure gonadal dysgenesis misdiagnosed as Mayer Rokitansky Kuster Hauser Syndrome: a case report

2020 ◽  
Vol 9 (11) ◽  
pp. 4756
Author(s):  
Preeti B. Singh ◽  
Roli Purwar ◽  
Pawan Kumar
Keyword(s):  
Case Report ◽  
Bone Loss ◽  
Gonadal Dysgenesis ◽  
Karyotype Analysis ◽  
Rare Presentation ◽  
Primary Amenorrhoea ◽  
Prevent Bone Loss ◽  
Hormone Profile ◽  
Phenotypic Female

Gonadal dysgenesis is a group of heterogeneous disorders with very rare presentation. The spectrum of disease not only includes primary amenorrhoea but also secondary amenorrhoea. Herein, we are reporting a case of 16-year-old phenotypic female who presented with amenorrhoea with 46, XX karyotype with hypoplastic uterus with absent ovaries (on imaging), with high gonadotropins level and low estradiol. Suspecting Mayer–Rokitansky–Küster–Hauser syndrome (due to hypoplastic uterus) with gonadal dysgenesis she was started on cyclic hormones for development of secondary sexual characters and to prevent bone loss. But, during follow up, after giving estrogen for 8 months, her hypoplastic uterus again starts reappearing with attainment of cyclic menses on estrogen and progesterone withdrawal. We concluded that, in the presence of rudimentary or hypoplastic uterus, straightforward diagnosis of MRKH is to be avoided without seeing peripheral estrogenisation, hormone profile and karyotype analysis.  

scholarly journals Linear and Nonlinear Heart Rate Variability Analysis in Gonadal Dysgenesis (Swyer Syndrome): A Case Report

2021 ◽  
Author(s):  
Valdelias Xavier Pereira ◽  
Tatiana Dias de Carvalho ◽  
Marcos Antonio Marinovic ◽  
Alex Rey Norberto ◽  
José Maria Soares ◽  
...  
Keyword(s):  
Heart Rate ◽  
Heart Rate Variability ◽  
Case Report ◽  
Gonadal Dysgenesis ◽  
Heart Rate Variability Analysis ◽  
Variability Analysis ◽  
Linear And Nonlinear ◽  
Swyer Syndrome
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