Advertisement

Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development

  • Miroslav DumicEmail author
  • Maria I. New
  • Karen Lin-Su
  • Ken McElreavey
  • Natasha I. Leibel
  • Srecko Ciglar
  • Saroj Nimkarn
  • Giovanna Vinci
  • Jean Wilson
  • Ruzica Lasan
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 707)

Abstract

We report herein a remarkable family in which the mother of a woman with 46,XY complete gonadal dysgenesis was found to have a 46,XY karyotype in peripheral lymphocytes, mosaicism in cultured skin fibroblasts (80% 46,XY and 20% 45,X), and a predominantly 46,XY karyotype in the ovary (95% 46,XY and 5% 45,X).

Keywords

Extensive Family Sexual Development Peripheral Lymphocyte Normal Woman Gonadal Dysgenesis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Miroslav Dumic
    • 1
    Email author
  • Maria I. New
    • 2
  • Karen Lin-Su
    • 3
  • Ken McElreavey
    • 4
    • 5
  • Natasha I. Leibel
    • 6
  • Srecko Ciglar
    • 7
  • Saroj Nimkarn
    • 8
  • Giovanna Vinci
    • 4
  • Jean Wilson
    • 9
  • Ruzica Lasan
    • 1
  1. 1.Department of Pediatric Endocrinology and DiabetesUniversity Hospital RebroZagrebCroatia
  2. 2.Adrenal Steroid Disorders Program, Division of Pediatric Endocrinology, Department of PediatricsMount Sinai School of MedicineNew YorkUSA
  3. 3.Pediatric Endocrinology, Weill Medical College of CornellNew YorkUSA
  4. 4.Human Genetic LaboratoryInstitut PasteurParisFrance
  5. 5.Human Developmental Genetics, Institut PasteurParisFrance
  6. 6.Columbia University College of Physicians and SurgeonsNew YorkFrance
  7. 7.Department of Gynecology and ObstetricsClinical Hospital MerkurZagrebCroatia
  8. 8.Endocrinology Fellowship ProgramNew York-Presbyterian Hospital, Weill Cornell Medical CollegeNew YorkUSA
  9. 9.Charles Cameron Sprague, Southwestern Medical Center, University of TexasDallasUSA

Personalised recommendations