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Phenotype, ovarian function, and growth in patients with 45,X/47,XXX Turner mosaicism: Implications for prenatal counseling and estrogen therapy at puberty

Blair, Joanne ; Tolmie, John ; Hollman, Anne S. ; Donaldson, Malcolm D.C.

The Journal of pediatrics, 2001-11, Vol.139 (5), p.724-728 [Periódico revisado por pares]

New York, NY: Mosby, Inc

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Phenotype, ovarian function, and growth in patients with 45,X/47,XXX Turner mosaicism: Implications for prenatal counseling and estrogen therapy at puberty
Autor: Blair, Joanne ; Tolmie, John ; Hollman, Anne S. ; Donaldson, Malcolm D.C.
Assuntos: Adolescent ; Adult ; Biological and medical sciences ; Child ; Estradiol Congeners - therapeutic use ; Female ; Genetic Counseling ; Gynecology. Andrology. Obstetrics ; Humans ; Karyotyping ; Male and female genital diseases. Gonadal dysgenesis. Hermaphroditism. Sex hormones resistance ; Medical sciences ; Mosaicism ; Ovary - physiopathology ; Phenotype ; Prognosis ; Turner Syndrome - drug therapy ; Turner Syndrome - genetics
É parte de: The Journal of pediatrics, 2001-11, Vol.139 (5), p.724-728
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Descrição: 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. Study design: 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. Conclusion: 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. (J Pediatr 2001;139:724–8)
Editor: New York, NY: Mosby, Inc
Idioma: Inglês

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