TY  - JOUR
T1  - 46, XY Complete Gonadal Dysgenesis (Swyer Syndrome): Report of Two Different Cases
AU - Elagwany, Ahmed S. AU - Ziad, S. AU - Abouzaid, M.D. 
JO  - Surgery Journal
VL  - 8
IS  - 1
SP  - 1
EP  - 3
PY  - 2013
DA  - 2001/08/19
SN  - 1816-3211
DO  - sjour.2013.1.3
UR  - https://makhillpublications.co/view-article.php?doi=sjour.2013.1.3
KW  - Swyer syndrome
KW  -gonadal dysgenesis
KW  -amenorrhea
KW  -patient
KW  -karyotype
AB  - Swyer’s syndrome 
  is a distinct type of pure gonadal dysgenesis characterized by a 46, XY karyotype 
  in female phenotypic patients. It shows an abnormality in testicular differentiation. 
  To present cases of Swyer syndrome. Researchers present the clinical, sonographic, 
  endocrine findings, genetic analyses and treatment in two cases of phenotypic 
  females with XY karyotype and gonadal dysgenesis. All patients presented with 
  primary amenorrhea. All patients had female-type external genitalia. Secondary 
  sexual characters were developed in all cases. FSH levels were high. Chromosome 
  analyses revealed a 46, XY male karyotype with no detectable mosaicism. The 
  surgical findings were steak gonads, one of them with bilateral gonadoblastoma. 
  Bilateral gonadectomy followed by hormone replacement therapy. Reseachers aimed 
  to underline the necessity of considering 46, XY complete pure gonadal dysgenesis 
  in the differential diagnosis in every adolescent female patient with delayed 
  puberty and the importance of early gonadectomy in order to avoid the risk for 
  gonadal tumor development.
ER  -