Disorders of sex development in children

Report of 3 cases of 47,XXX syndrome with growth retardation

  • YANG-Li ,
  • Ya-qin FENG ,
  • Yu YANG ,
  • Li-ling XIE ,
  • Di-lan WANG ,
  • Hui HUANG
Expand
  • Department of Endocrinology, Genetics and Metabolism, Children's Hospital of Nanchang University/Jiangxi Provincial Children's Hospital, Nanchang 330006, China
YANG Yu, E-mail: yangyu5168@126.com.

Online published: 2021-10-22

Abstract

To analyze the clinical data of 3 children with growth retardation, including height, chromosome karyotype, and the levels of growth hormone, insulin-like growth factor-1 and gonadal development. All the 3 cases of children were found to be slow in growth rate, no special face, and normal level of insulin-like growth factor-1; the 3 cases all underwent growth hormone provocation test, of which 1 case was partial growth hormone deficiency and 2 cases were idiopathic short; 3 cases of chromosomal karyotypes were 47, XXX, in line with the diagnosis of super-female syndrome.

Cite this article

YANG-Li , Ya-qin FENG , Yu YANG , Li-ling XIE , Di-lan WANG , Hui HUANG . Report of 3 cases of 47,XXX syndrome with growth retardation[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2021 , 41(11) : 1425 -1428 . DOI: 10.3969/j.issn.1674-8115.2021.11.004

References

1 Jacobs PA, Baikie AG, Brown WM, et al. Evidence for the existence of the human "super female"[J]. Lancet, 1959, 2(7100): 423-425.
2 Berglund A, Viuff MH, Skakkeb?k A, et al. Changes in the cohort composition of Turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study[J]. Orphanet J Rare Dis, 2019, 14(1): 16.
3 Li M, Zou C, Zhao Z. Triple X syndrome with short stature: case report and literature review[J]. Iran J Pediatr, 2012, 22(2): 269-273.
4 梁雁, 杜敏联, 罗小平. 中枢性性早熟诊断与治疗共识(2015)[J]. 中华儿科杂志, 2015, 53(6): 412-418.
5 李辉, 季成叶, 宗心南, 等.中国0~18岁儿童、青少年身高、体重的标准化生长曲线[J].中华儿科杂志, 2009, 47(7): 487-492.
6 Stochholm K, Juul S, Gravholt CH. Mortality and incidence in women with 47,XXX and variants[J]. Am J Med Genet A, 2010, 152A(2): 367-372.
7 郭利丽, 丁建林, 贾静, 等. 47,XXX综合征的研究进展[J]. 国际生殖健康/计划生育杂志, 2020, 39(1): 49-53.
8 Yamazaki S, Akutsu Y, Shimbo A, et al. Childhood-onset systemic lupus erythematosus with trisomy X and the increased risk for bone complications: a case report[J]. Pediatr Rheumatol Online J, 2021, 19(1): 20.
9 Rafique M, AlObaid S, Al-Jaroudi D. 47,XXX syndrome with infertility, premature ovarian insufficiency, and streak ovaries[J]. Clin Case Rep, 2019, 7(6): 1238-1241.
10 Vogt PH, Affara N, Davey P, et al. Report of the third international workshop on Y chromosome mapping 1997. Heidelberg, Germany, April 13-16, 1997[J]. Cytogenet Cell Genet, 1997, 79(1-2): 1-20.
11 Nielsen MM, Trolle C, Vang S, et al. Epigenetic and transcriptomic consequences of excess X-chromosome material in 47,XXX syndrome: a comparison with Turner syndrome and 46,XX females[J]. Am J Med Genet C Semin Med Genet, 2020,184(2):279-293.
12 Aksglaede L, Skakkebaek NE, Juul A. Abnormal sex chromosome constitution and longitudinal growth: serum levels of insulin-like growth factor (IGF)-I, IGF binding protein-3, luteinizing hormone, and testosterone in 109 males with 47,XXY, 47,XYY, or sex-determining region of the Y chromosome (SRY)-positive 46,XX karyotypes[J]. J Clin Endocrinol Metab,2008, 93(1):169-176.
13 Ogata T, Matsuo N. Sex chromosome aberrations and stature: deduction of the principal factors involved in the determination of adult height[J]. Hum Genet, 1993, 91(6): 551-562.
14 Stagi S, Di Tommaso M, Scalini P, et al. Cross-sectional study shows that impaired bone mineral status and metabolism are found in nonmosaic triple X syndrome[J]. Acta Paediatr, 2017, 106(4): 619-626.
15 Frederiksen AL, Hansen S, Brixen K, et al. Increased cortical area and thickness in the distal radius in subjects with SHOX-gene mutation[J]. Bone, 2014, 69: 23-29.
16 Butnariu L, Rusu C, Caba L, et al. Genotype- phenotype correlation in trisomy X: a retrospective study of a selected group of 36 patients and review of literature[J]. Rev Med Chir Soc Med Nat Iasi, 2013, 117(3): 714-721.
17 Wallerstein R, Musen E, McCarrier J, et al. Turner syndrome phenotype with 47,XXX karyotype: further investigation warranted? [J]. Am J Med Genet A, 2004, 125A(1): 106-107.
18 Davis SM, Soares K, Howell S, et al. Diminished ovarian reserve in girls and adolescents with trisomy X syndrome[J]. Reprod Sci, 2020, 27(11): 1985-1991.
19 Sybert VP. Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome[J]. J Med Genet, 2002, 39(3): 217-220.
Outlines

/