A rare unbalanced Y:autosome translocation in a Turner syndrome patient
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Ruen Yao
Abstract
Background:
Y:autosome translocations are reported to be associated with male infertility and azoospermia. Female cases with Y:autosome translocation are extremely rare.
Case presentation:
We report a unique case of a rare unbalanced translocation t(Y;13) in a 12-year-old girl with Turner syndrome. Combined cytogenetic testing helped to demonstrate the detail of rare chromosomal structural rearrangement in this patient.
Conclusions:
The presented case showed femaleness phenotype and failure of masculinization with presence of Y chromosome and the SRY gene. She was treated with growth hormone (GH) therapy after confirming the presence of only female internal gonad with laparoscopy.
Acknowledgments
The authors would like to thank the patient and her family for their cooperation and their agreement for this publication.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: This study is supported by Shanghai Children’s Medical Center Research Project (PEGFR201506011).
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Sybert VP, McCauley E. Turner’s syndrome. N Engl J Med 2004;351:1227–38.10.1056/NEJMra030360Search in Google Scholar
2. Uematsu A, Yorifuji T, Muroi J, Kawai M, Mamada M, et al. Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications for the mechanism leading to generation of a 45,X karyotype. Am J Med Genet 2002;111:134–9.10.1002/ajmg.10506Search in Google Scholar
3. James RS, Dalton P, Gustashaw K, Wolff DJ, Willard HF, et al. Molecular characterization of isochromosome Xq. Ann Hum Genet 1997;61:485–90.10.1017/S0003480097006519Search in Google Scholar
4. Prakash S, Guo D, Maslen CL, Silberbach M, Milewicz D, et al. Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome. Genet Med 2014;16:53–9.10.1038/gim.2013.77Search in Google Scholar
5. Crespi B. Turner syndrome and the evolution of human sexual dimorphism. Evol Appl 2008;1:449–61.10.1111/j.1752-4571.2008.00017.xSearch in Google Scholar
6. Oliveira RM, Verreschi IT, Lipay MV, Eça LP, Guedes AD, et al. Y chromosome in Turner syndrome: review of the literature. Sao Paulo Med J 2009;127:373–8.10.1590/S1516-31802009000600010Search in Google Scholar
7. Dendrinos ML, Smorgick N, Marsh CA, Smith YR, Quint EH. Occurrence of gonadoblastoma in patients with 45,X/46,XY mosaicism. J Pediatr Adolesc Gynecol 2015;28:192–5.10.1016/j.jpag.2014.09.016Search in Google Scholar
8. Chen CP, Lin SP, Tsai FJ, Wang TH, Chern SR, et al. Characterization of a de novo unbalanced Y;autosome translocation in a 45,X mentally retarded male and literature review. Fertil Steril 2008;90:1198.e11–8.10.1016/j.fertnstert.2007.11.065Search in Google Scholar
9. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, et al. Human Y chromosome azoospermia factors (AZF) mapped to different sub regions in Yq11. Hum Mol Genet 1996;5:933–43.10.1093/hmg/5.7.933Search in Google Scholar
10. Yenamandra A, Deangelo P, Aviv H, Suslak L, Desposito F. Interstitial insertion of Y-specific DNA sequences including SRY into chromosome 4 in a 45,X male child. Am J Med Genet 1997;72:125–8.10.1002/(SICI)1096-8628(19971017)72:2<125::AID-AJMG1>3.0.CO;2-USearch in Google Scholar
11. Magenis RE, Casanova M, Fellous M, Olson S, Sheehy R. Further cytologic evidence for Xp-Yp translocation in XX males using in situ hybridization with Y-derived probe. Hum Genet 1987;75:228–33.10.1007/BF00281064Search in Google Scholar PubMed
12. Weber B, Schempp W, Orth U, Seidel H, Gal A. A Y/5 translocation in a 45,X male with cri du chat syndrome. Hum Genet 1987;77:145–50.10.1007/BF00272382Search in Google Scholar PubMed
13. Kelly PC, Blake WW, Davis JR. Tandem Y/6 translocation with partial deletion 6 (p23/pter). Clin Genet 1989;36:204–7.10.1111/j.1399-0004.1989.tb03190.xSearch in Google Scholar
14. el Kalla S, Mathews AR, Menon NS. Del(18p) syndrome with complex tetralogy of Fallot in an infant with 45,X,t(Y;18)(q12;q11.2). Am J Med Genet 1992;42:665–6.10.1002/ajmg.1320420507Search in Google Scholar PubMed
15. de Ravel TJ, Fryns JP, Van Driessche J, Vermeesch JR. Complex chromosome re-arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation. Am J Med Genet 2004;124A:259–62.10.1002/ajmg.a.20372Search in Google Scholar PubMed
16. Seki A, Jinno T, Suzuki E, Takayama S, Ogata T, et al. Skeletal deformity associated with SHOX deficiency. Clin Pediatr Endocrinol 2014;23:65–72.10.1297/cpe.23.65Search in Google Scholar PubMed PubMed Central
17. Rosilio M, Huber-Lequesne C, Sapin H, Carel JC, Blum WF, et al. Genotypes and phenotypes of children with SHOX deficiency in France. J Clin Endocrinol Metab 2012;97:E1257–65.10.1210/jc.2011-3460Search in Google Scholar PubMed
18. Sandoval GT, Jaimes GC, Barrios MC, Cespedes C, Velasco HM. SHOX gene and conserved noncoding element deletions/duplications in Colombian patients with idiopathic short stature. Mol Genet Genomic Med 2014;2:95–102.10.1002/mgg3.39Search in Google Scholar PubMed PubMed Central
19. Garcés C, Cano B, Lasunción MA, Mangas A, Benavente M, et al. Dehydroepiandrosterone sulfate and high-density lipoprotein-cholesterol levels in overweight children. Obesity (Silver Spring) 2007;5:1147–54.10.1038/oby.2007.625Search in Google Scholar PubMed
20. Doi SA, Al-Zaid M, Towers PA, Scott CJ, Al-Shoumer KA. Steroidogenic alterations and adrenal androgen excess in PCOS. Steroids 2006;71:751–9.10.1016/j.steroids.2006.05.005Search in Google Scholar PubMed
21. Martin DD, Schweizer R, Schwarze CP, Elmlinger MW, Ranke MB, et al. The early dehydroepiandrosterone sulfate rise of adrenarche and the delay of pubarche indicate primary ovarian failure in Turner syndrome. J Clin Endocrinol Metab 2004;89:1164–8.10.1210/jc.2003-031700Search in Google Scholar PubMed
22. Sekido R, Lovell-Badge R. Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature 2008;453:930–4.10.1038/nature06944Search in Google Scholar PubMed
23. Fujimoto Y, Tanaka SS, Yamaguchi YL, Kobayashi H, Kuroki S, et al. Homeoproteins Six1 and Six4 regulate male sex determination and mouse gonadal development. Dev Cell 2013;26:416–30.10.1016/j.devcel.2013.06.018Search in Google Scholar PubMed
24. Bradford ST, Wilhelm D, Bandiera R, Vidal V, Schedl A, et al. A cell-autonomous role for WT1 in regulating sry in vivo. Hum Mol Genet 2009;18:3429–38.10.1093/hmg/ddp283Search in Google Scholar PubMed
25. Gimelli G, Giorda R, Beri S, Gimelli S, Zuffardi O. A 46,X,inv(Y) young woman with gonadal dysgenesis and gonadoblastoma: cytogenetics, molecular, and methylation studies. Am J Med Genet A 2006;140:40–5.10.1002/ajmg.a.31044Search in Google Scholar PubMed
26. Mitsuhashi T, Warita K, Sugawara T, Tabuchi Y, Takasaki I, et al. Epigenetic abnormality of SRY gene in the adult XY female with pericentric inversion of the Y chromosome. Congenit Anom 2010;50:85–94.10.1111/j.1741-4520.2010.00274.xSearch in Google Scholar PubMed
27. Gravholt CH, Fedder J, Naeraa RW, Müller J. Occurrence of gonadoblastoma in females with Turner syndrome and Y chromosome material: a population study. J Clin Endocrinol Metab 2000;85:3199–202.10.1210/jc.85.9.3199Search in Google Scholar
28. Bianco B, Lipay M, Guedes A, Oliveira K, Verreschi IT. SRY gene increases the risk of developing gonadoblastoma and/or nontumoral gonadal lesions in Turner syndrome. Int J Gynecol Pathol 2009;28:197–202.10.1097/PGP.0b013e318186a825Search in Google Scholar PubMed
©2018 Walter de Gruyter GmbH, Berlin/Boston
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- A rare unbalanced Y:autosome translocation in a Turner syndrome patient
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- Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin
Articles in the same Issue
- Frontmatter
- Review
- Vitamin D deficiency in childhood: old lessons and current challenges
- Original Articles
- Brain gray matter volume differences in obese youth with type 2 diabetes: a pilot study
- Prevalence and clinical presentation at the onset of type 1 diabetes mellitus among children and adolescents in AL-Baha region, Saudi Arabia
- Whole blood viscosity and cerebral blood flow velocities in obese hypertensive or obese normotensive adolescents
- The utility of body mass index as an indicator for lipid abnormalities in non-fasting children
- Association of insulin-like growth factor-1 and IGF binding protein-3 with 25-hydroxy vitamin D in pre-pubertal and adolescent Indian girls
- The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study
- Clinical follow-up data and the rate of development of precocious and rapidly progressive puberty in patients with premature thelarche
- Age of pubertal events among school girls in Lagos, Nigeria
- Evaluation of basal sex hormone levels for activation of the hypothalamic–pituitary–gonadal axis
- PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature
- Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey
- Case Reports
- Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation
- A rare unbalanced Y:autosome translocation in a Turner syndrome patient
- A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation
- Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin
