Association of 45, X/46, XY mosaicism with disorders of sex development: the clinical analysis of 5 cases

• Published in: Zhonghua er ke za zhi Vol. 49; no. 6; p. 451
• Main Authors: Chang, Guo-ying, Dong, Zhi-ya, Wang, Wei, Xiao, Yuan, Chen, Feng-sheng, Ni, Ji-hong, Wang, Rui-fang, Wang, De-fen
• Format: Journal Article
• Language: Chinese
• Published: China 01.06.2011
• Subjects: Adolescent; Child; Chimerism; Developmental Disabilities - complications; Female; Gonadal Dysgenesis, 46,XY - complications; Humans; Male; Sex Chromosome Aberrations; Sexual Development; Turner Syndrome - complications
• ISSN: 0578-1310

To analyze clinical characteristics of children with 45, X/46, XY mosaicism and explore effective managements for them. 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. 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. Patients with mosaic 45, X/46, XY karyotypes had a wide range of phenotypic manifestations, and disorders of sex de