The spectrum of 45,X/46,XY mosaicism in Taiwanese children: The experience of a single center
Journal
Journal of the Formosan Medical Association
Journal Volume
118
Journal Issue
1P3
Pages
450-456
Date Issued
2019
Author(s)
Abstract
Background/Purpose: 45,X/46,XY mosaicism is a rare sex chromosome abnormality. Here, we present our experience in the management of 45,X/46,XY Taiwanese children. Patients and Methods: We enrolled 19 patients from January 1981 to September 2016. The diagnosis of 45,X/46,XY mosaicism was made by karyotyping peripheral blood lymphocytes. All medical records were thoroughly reviewed. Results: Of the 19 patients, 16 were reared as females and 3 as males. The age at diagnosis ranged from 1 month to 15 years and 9 months. Atypical genitalia, short stature, and Turner stigmata were common manifestations. No patient exhibited a cardiac malformation but 29% had renal malformations and 12.5% had autoimmune thyroid disease who developed thyroid dysfunction later. Nine girls with short stature received growth hormone therapy and their height standard deviation score rose from ?3.4 ± 1.1 to ?1.4 ± 0.9 in adulthood (P < 0.01). The gonadal phenotypes included bilateral streak gonads in nine patients, a streak gonad with contralateral gonadal agenesis in one, mixed gonadal dysgenesis in five, bilateral dysgenetic testes in two, and bilateral gonadoblastomas in one. Conclusion: The 45,X/46,XY phenotype varies widely and a high index of suspicion is important to ensure early diagnosis. Cardiac and renal malformations should be screened ultrasonically at diagnosis and thyroid status should be monitored annually. Growth hormone effectively improves adult height in short girls. Prophylactic gonadectomy is indicated for those with intra-abdominal streaks or dysgenetic gonads to prevent the development of a malignancy. ? 2018
SDGs
Other Subjects
estrogen; growth hormone; growth hormone; 45,X/46,XY mosaicism; adolescent; adulthood; Article; autoimmune thyroiditis; child; clinical article; clitoromegaly; cryptorchism; estrogen therapy; female; genital system disease; gonadal agenesis; gonadectomy; hormonal therapy; human; human cell; human tissue; hypospadias; infant; karyotyping; kidney malformation; male; mixed gonadal dysgenesis; peripheral lymphocyte; phenotype; preschool child; short stature; Taiwanese; thyroid disease; Turner syndrome; body height; disorder of sex development; genetics; gonadoblastoma; mosaicism; Taiwan; Adolescent; Body Height; Child; Child, Preschool; Disorders of Sex Development; Female; Gonadal Dysgenesis, Mixed; Gonadoblastoma; Growth Hormone; Humans; Infant; Karyotyping; Male; Mosaicism; Taiwan; Turner Syndrome
Publisher
Elsevier B.V.
Type
journal article