A RARE CAUSE OF MALE PSEUDOHERMAPHRODITISM: 46, XY GONADAL DYSGENESIS (SWYER SYNDROME)


ABACI A., Unuvar T., BÖBER E., Giray Ö., BORA E., ÜLGENALP A., ...More

MARMARA MEDICAL JOURNAL, vol.23, no.2, pp.302-307, 2010 (ESCI) identifier

  • Publication Type: Article / Article
  • Volume: 23 Issue: 2
  • Publication Date: 2010
  • Journal Name: MARMARA MEDICAL JOURNAL
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.302-307
  • Keywords: Male pseudohermaphroditism, Gonadal dysgenesis, Amenorrhea
  • Dokuz Eylül University Affiliated: Yes

Abstract

A 16-year-old female patient presented with complaints of amenorrhea and lack of breast development. Baseline hormonal results were consistent with primary ovarian failure. Ovaries and uterus could not be demonstrated by ultrasonographic evaluation. No deletion-type mutation was detected in the SRY gene of the patient whose karyotype was 46, XY. The gonads, both of which were detected as streaks during laparoscopy, were removed because of the risk for gonadal tumour. Hormone replacement therapy was started following bilateral gonadectomy. With this case report, we 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 tumuor development.