›› 2013, Vol. 33 ›› Issue (4): 450-.doi: 10.3969/j.issn.1674-8115.2013.04.014

• Original article (Clinical research) • Previous Articles     Next Articles

Clinical manifestation and chromosomes karyotype analysis of children with disorders of sex development

HUANG Ying-ying, LI Pin   

  1. Department of Endocrinology, Children´s Hospital, Shanghai Jiaotong University, Shanghai Children´s Hospital, Shanghai 200040, China
  • Online:2013-04-28 Published:2013-05-03
  • Supported by:

    Shanghai Municipal Health Bureau Foundation, 2011028


Objective To investigate the classification and clinical manifestation of disorders of sex development (DSD), and explore the correlation of gonads phenotype and clinical manifestation with nuclear type of chromosome in DSD. Methods The clinical symptoms, signs,  nuclear type of chromosome, B ultrasound of abdomen and sex hormone were examined in 55 cases of DSD, and the pathological findings of gonads were analysed. Results The social genders of 26 cases were female, and the other 29 were male. Twenty (36.3%) cases were 46,XX DSD, including 7 cases of true hermaphrodism and 13 cases of congenital adrenal cortical hyperplasia. Twenty-nine (52.7%) cases were 46,XY DSD, including 8 cases of androgen insensitivity syndrome. Six (10.9%) cases were sex chromosome DSD, including 3 cases of Turner syndrome and 1 case of Klinefelter syndrome. Conclusion The majority of 46,XX DSD cases are congenital adrenal hyperplasia, most 46, XY DSD cases are androgen insensitivity syndrome and hypofunction of testis, and some cases of DSD with unknown etiology may have relationship with insufficient testosterone secretion in embryonic stage.

Key words: disorders of sex development, chromosomes karyotype, sex hormone, external genitalia