Phenotype, ovarian function, and growth in patients with 45,X/47,XXX Turner mosaicism: implications for prenatal counseling and estrogen therapy at puberty.
OBJECTIVE
Our objective was to determine whether girls with the rare Tur-ner 45,X/47,XXX mosaic karyotype are less severely affected than girls with 2 commoner karyotypes.


METHODS
We evaluated growth status, phenotype, and ovarian function in 7 girls with 45,X/47,XXX mosaicism, age-matching each with 2 girls with 45,X and 1 with 45,X/46,Xi(X)(q10) karyotypes.


RESULTS
For the index, 45,X, and 45,X/46,Xi(X)(q10) groups, respectively, the median/mean height SD score at the start of growth hormone therapy/comparable age was -2.0 (-1.2), -2.3 (-2.4), and -2.6 (-2.6), cardiac anomalies were identified in 0 of 7, 4 of 14, and 1 of 7, renal abnormalities in 0 of 7, 4 of 14, and 3 of 7, middle ear problems in 2 of 7, 11 of 14, and 4 of 7, and special educational needs in 0 of 7, 3 of 14, and 1 of 7. Complete spontaneous puberty with menarche was seen in all but 1 girl older than 12 years in the index group compared with only 1 girl in the comparison groups. Ovarian tissue was identified in 6 of 7, 0 of 14, and 1 of 7 girls, and the mean follicle-stimulating hormone was 6, 25, and 21 U/L, respectively.


CONCLUSIONS
Girls with 45,X/47,XXX karyotype are mildly affected, with good preservation of ovarian function. This result has important implications for prenatal counseling and the need for estrogen therapy at puberty.
Blair
J
J
Department of Child Health, Duncan Guthrie Institute of Medical Genetics, Glasgow, Scotland, UK.
Tolmie
J
J
Hollman
A S
AS
Donaldson
M D
MD
D000293:Adolescent; D000328:Adult; D002648:Child; D045166:Estradiol Congeners / Q000627:therapeutic use; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D010053:Ovary / Q000503:physiopathology; D010641:Phenotype; D011379:Prognosis; D014424:Turner Syndrome / Q000188:drug therapy / Q000235:genetics*
D045166:Estradiol Congeners