[Association of 45, X/46, XY mosaicism with disorders of sex development: the clinical analysis of 5 cases].
Zhonghua Er Ke Za Zhi
; 49(6): 451-4, 2011 Jun.
Article
in Zh
| MEDLINE
| ID: mdl-21924060
OBJECTIVE: To analyze clinical characteristics of children with 45, X/46, XY mosaicism and explore effective managements for them. METHOD: 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. RESULT: 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. CONCLUSION: 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.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Sex Chromosome Aberrations
/
Developmental Disabilities
Type of study:
Risk_factors_studies
Limits:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Language:
Zh
Journal:
Zhonghua Er Ke Za Zhi
Year:
2011
Document type:
Article
Affiliation country:
China
Country of publication:
China