嵌合型Turner综合征伴生长激素缺乏1例

李国涛, 王娜

武警医学 ›› 2023, Vol. 34 ›› Issue (6) : 522-523.

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武警医学 ›› 2023, Vol. 34 ›› Issue (6) : 522-523.
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嵌合型Turner综合征伴生长激素缺乏1例

  • 李国涛, 王娜
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李国涛, 王娜. 嵌合型Turner综合征伴生长激素缺乏1例[J]. 武警医学. 2023, 34(6): 522-523
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参考文献

[1] Turner H H. A syndrome of infantilism,congenital webbed neck,and cubitus valgus[J]. Endocrinology,1938,23(5): 566-574.
[2] Davenport M L. Approach to the patient with Turner syndrome [J].J Clin Endocrinol Metab,2010,95(4):1487-1495.
[3] Munns C J,Haase H R,Crowther L M, et al.Expression of SHOX in human fetal and childhood growth plate[J].J Clin Endocrinol Metab,2004,89 (8):4130-4135.
[4] Gravholt C H. Epidemiological,endocrine and metabolic features in Turner syndrome[J]. Arq Bras Endocrinol Metabol,2005,49(1):145-156.
[5] Lim H H,Kil H R,Koo S H.Incidence,puberty,and fertility in 45,X/47,XXX mosaicism:report of a patient and a literature review[J]. Am J Med Genet A,2017,173(1):1961-1964.
[6] Bouchlariotou S,Tsikouras P, et al.Turner’s syndrome and pregnancy:has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review [J]. J Matern Fetal Neo M,2011,24(5):668-672.
[7] Zhong Q,Layman L C. Genetic considerations in the patient with Turner syndrome-45,X with or without mosaicism[J]. Fertil Steril,2012,98(4):775-779.
[8] Sybert V P. Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome[J]. J Med Genet,2002,39(3):217-220.
[9] Gravholt C H,Andersen N H,Conway G S, et al. Clinical practice guidelines for the care of girls and women with turner syndrome:proceedings from the 2016 cincinnati international turner syndrome meeting[J].Eur J Endocrinol,2017,177( 1):G1-70
[10] Gault E J, Cole T J, Casey S,et al. Effect of oxandrolone and timing of pubertal induction on final height in Turner syndrome: final analysis of the UK randomised placebo-controlled trial [J].Arch Dis Child,2021,106(1):74-76.
[11] Dantas N C B, Braz A F, Malaquias A, et al. Adult height in 299 patients with Turner syndrome with or without growth hormone therapy: results and literature review [J]. Horm Res Paediatr,2021,94(1-2):63-70.
[12] Wilson T A,Rose S R,Cohen P, et al.Update of guidelines for the use of growth hormone in children: the lawson wilkins pediatric endocrinology society drug and therapeutics committee[J].J Pediatr,2003,143(4):415-421.
[13] Li P,Cheng F,Xiu L.Height outcome of the recombinant human growth hormone treatment in Turner syndrome: a meta-analysis [J]. Endocr Connect,2018,7(4):573-583.
[14] Soares J S, Silva Lago R M, Toralles M B, et al. Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? [J]. Arch Endocrinol Metab,2021,65(6):739-746.
[15] Klein K O,Rosenfield R L,Santen R J, et al. Estrogenreplacement in Turner syndrome: literature review and practical considerations [J]. J Clin Endocrinol Metab,2018,103(5):1790-1803.

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