title: [Association of 45, X/46, XY mosaicism with disorders of sex development: the clinical analysis of 5 cases].
abstract: OBJECTIVE
  To analyze clinical characteristics of children with 45, X/46, XY mosaicism and explore effective managements for them.
  
  
  METHODS
  Five children with 45, X/46, XY mosaicism were all in puberty period, of whom, three were female and two male. The standing height, weight and sexual development were measured. The levels of sex hormones, other endocrine parameters were also determined, and imaging examinations were performed.
  
  
  RESULTS
  All the patients had disorders of sex development, of whom, 4 had short stature, and the HtSDs was -2.8 ± 1.1. The results of laboratory indexes suggested that 4 had hypergonadotropic hypogonadism, with the average level of LH (13.5 ± 5.8) IU/L and FSH (56.8 ± 37.4) IU/L. Imaging examinations revealed that 2 cases had cryptorchidism, 1 had immature uterus, 1 had testicular dysgenesis and 1 had normal testis. Three patients received rhGH treatment and 1 took gender assignment into account.
  
  
  CONCLUSIONS
  Patients with mosaic 45, X/46, XY karyotypes had a wide range of phenotypic manifestations, and disorders of sex development and short stature were the main clinical features. However, the disorders of sex development varied among these patients. And the management for them depends upon many factors and needs to be individualized based on the cooperation with different clinical departments.
authors.affiliation: Department of Pediatrics, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Guo-ying
authors.initials: GY
authors.lastname: Chang
authors.forename: Zhi-ya
authors.initials: ZY
authors.lastname: Dong
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Yuan
authors.initials: Y
authors.lastname: Xiao
authors.forename: Feng-sheng
authors.initials: FS
authors.lastname: Chen
authors.forename: Ji-hong
authors.initials: JH
authors.lastname: Ni
authors.forename: Rui-fang
authors.initials: RF
authors.lastname: Wang
authors.forename: De-fen
authors.initials: DF
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D002648:Child; D046528:Chimerism; D002658:Developmental Disabilities / Q000150:complications*; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications; D006801:Humans; D008297:Male; D012729:Sex Chromosome Aberrations; D046468:Sexual Development; D014424:Turner Syndrome / Q000150:complications