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Journal of Medical Case Reports

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Open Access 01-12-2020 | Fertility | Case report

48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report

Authors: Mohammad Marwan Alhalabi, Marwan Alhalabi

Published in: Journal of Medical Case Reports | Issue 1/2020

Abstract

Background

Long-term infertility can be attributed to many factors, with the genetic factor being the most overlooked due to its many nonspecific morphological or endocrine signs. We present a rare case of a patient with progressive testicular failure associated with 48,XXYY syndrome.

Case presentation

A 39-year-old Arab man presented to our fertility clinic for fertility treatment. He was diagnosed with primary infertility, which had been present for 20 years at the time of presentation. Our patient had nonspecific morphological features of an abnormally wide neck with front slouching neck posture, clinodactyly of the third finger, and had moderate hypoandrogenemic features. A semen analysis revealed azoospermia. Genetic tests for azoospermia, including sex-determining region Y (SRY) detection and chromosome Y microdeletion, revealed no deletion present on the Y chromosome. Karyotyping was used and our patient was diagnosed with 48,XXYY syndrome.

Conclusion

Genetic testing (karyotyping and so on) played a key role in the diagnosis of our patient with long-term primary infertility secondary to 48,XXYY syndrome, and should play a vital role in all cases of long-term infertility, especially when presentation is accompanied by endocrine, skeletal, or morphological symptoms, signifying an underlying genetic factor.

Muldal S, Ockey C, Thompson M, White L. 'Double male'– a new chromosome constitution in the Klinefelter syndrome. Eur J Endocrinol. 1962;39(2):183–203.CrossRef

Tartaglia N, Ayari N, Howell S, D’Epagnier C, Zeitler P. 48, XXYY, 48, XXXY and 49, XXXXY syndromes: not just variants of Klinefelter syndrome. Acta Paediatr. 2011;100(6):851–60.CrossRef

Sørensen K, Nielsen J, Jacobsen P, Rølle T. The 48, XXYY syndrome. J Ment Defic Res. 1978;22(3):197–205.PubMed

Cammarata M, Di Simone P, Graziano L, Giuffrè M, Corsello G, Garofalo G. Rare sex chromosome aneuploidies in humans: report of six patients with 48, XXYY, 49, XXXXY, and 48, XXXX karyotypes. Am J Med Genet. 1999;85(1):86–7.CrossRef

Feichtinger C, Rossiwall B. Taurodontism in human sex chromosome aneuploidy. Arch Oral Biol. 1977;22(5):327–9.CrossRef

Goldstein E, Gottlieb MA. Taurodontism: familial tendencies demonstrated in eleven of fourteen case reports. Oral Surg Oral Med Oral Pathol. 1973;36(1):131–44.CrossRef

Sanz NM, Turón AV, Ibáñez LT. Atypical presentation of Klinefelter syndrome. An Pediatr (Barc). 2013;79(2):112–5.CrossRef

Gorlin RJ, Redman RS, Shapiro BL. Effect of X-chromosome aneuploidy on jaw growth. J Dent Res. 1965;44(1):269–82.CrossRef

Hanley AP, Blumenthal JD, Lee NR, Baker EH, Clasen LS, Giedd JN. Brain and behavior in 48, XXYY syndrome. Neuroimage Clin. 2015;8:133–9.CrossRef

10.

Nielsen J, Wohlert M. Sex chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Birth Defects Orig Artic Ser. 1990;26(4):209–23.PubMed

11.

Bonomi M, Rochira V, Pasquali D, Balercia G, Jannini EA, Ferlin A, et al. Klinefelter syndrome (KS): genetics, clinical phenotype and hypogonadism. J Endocrinol Investig. 2017;40(2):123–34.CrossRef

12.

Atik T, Çoğulu Ö, Özkınay F. A rare sex chromosome aneuploidy: 48, XXYY syndrome. Turk Pediatri Arş. 2016;51(2):106–9.CrossRef

13.

Tartaglia N, Davis S, Hench A, Nimishakavi S, Beauregard R, Reynolds A, et al. A new look at XXYY syndrome: medical and psychological features. Am J Med Genet A. 2008;146(12):1509–22.CrossRef

14.

Zantour B, Sfar MH, Younes S, Alaya W, Kamoun M, Mkaouar E, et al. 48XXYY syndrome in an adult with type 2 diabetes mellitus, unilateral renal aplasia, and pigmentary retinitis. Case Rep Med. 2010;2010. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2934777/.

15.

Nielsen J, Wohlert M. Chromosome abnormalities found among 34910 newborn children: results from a 13-year incidence study in Århus, Denmark. Hum Genet. 1991;87(1):81–3.CrossRef

16.

Yamane Y, Okamoto S, Fukui H, Matsumura Y, Yoshikawa M, Tsujita S, et al. 48, XXYY syndrome associated with acromegaloidism. Intern Med. 1993;32(2):160–5.CrossRef

17.

Borja-Santos N, Trancas B, Pinto PS, Lopes B, Gamito A, Almeida S, et al. 48, XXYY in a general adult psychiatry department. Psychiatry (Edgmont). 2010;7(3):32–6.

18.

Allanson JE. Noonan syndrome. J Med Genet. 1987;24(1):9–13.CrossRef

Title: 48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report
Authors: Mohammad Marwan Alhalabi
Marwan Alhalabi
Publication date: 01-12-2020
Publisher: BioMed Central
Keywords: Fertility
Infertility
Fluorescence in Situ Hybridization
Infertility
Klinefelter Syndrome
Polymerase Chain Reaction
Published in: Journal of Medical Case Reports / Issue 1/2020
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-020-02375-z

At a glance: The STEP trials

Springer Medicine

48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report

Abstract

Background

Case presentation

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Case presentation

Conclusion

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