XO/XY Mosaicism In Delayed Puberty - PubMed

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Abstract

Two adolescent boys with 45,X/46,XY (XO/XY mosaicism), presented in adolescence with pubertal delay and short stature. Both patients had a history of hypospadias repair, but otherwise normal male genitalia. Scrotal testes were present bilaterally, and no Müllerian structures were identified by pelvic ultrasound. The XO/XY mosaicism suggests that this chromosomal abnormality might be more common in phenotypic males than previously recognized. Because of the increased incidence of testicular neoplasia in patients with XO/XY mosaicism, it is important to document this chromosomal abnormality. We recommend cytogenetic analyses for boys with pubertal delay and hypospadias. If XO/XY mosaicism is documented, the patient must be closely followed for possible development of testicular failure and/or gonadoblastoma.

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• 45,X/46,XY mosaicism. A clinical review and report of ten cases. Knudtzon J, Aarskog D. Knudtzon J, et al. Eur J Pediatr. 1987 May;146(3):266-71. doi: 10.1007/BF00716471. Eur J Pediatr. 1987. PMID: 3595646
• 45,X/46,XY mosaicism: a cause of short stature in males. Efthymiadou A, Stefanou EG, Chrysis D. Efthymiadou A, et al. Hormones (Athens). 2012 Oct-Dec;11(4):501-4. doi: 10.14310/horm.2002.1384. Hormones (Athens). 2012. PMID: 23422775
• Management of phenotypic female patients with an XY karyotype. Portuondo JA, Neyro JL, Barral A, Gonzalez-Gorospe F, Benito JA. Portuondo JA, et al. J Reprod Med. 1986 Jul;31(7):611-5. J Reprod Med. 1986. PMID: 3091820
• Growth in Boys with 45,X/46,XY Mosaicism: Effect of Growth Hormone Treatment on Statural Growth. Bertelloni S, Baroncelli GI, Massart F, Toschi B. Bertelloni S, et al. Sex Dev. 2015;9(4):183-9. doi: 10.1159/000441342. Epub 2015 Nov 4. Sex Dev. 2015. PMID: 26529521 Review.
• Diagnosis of late puberty. Argente J. Argente J. Horm Res. 1999;51 Suppl 3:95-100. doi: 10.1159/000053168. Horm Res. 1999. PMID: 10592450 Review.

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• 45,X/46,XY mosaicism: report on 14 patients from a Brazilian hospital. A retrospective study. Rosa RF, D'Ecclesiis WF, Dibbi RP, Rosa RC, Trevisan P, Graziadio C, Paskulin GA, Zen PR. Rosa RF, et al. Sao Paulo Med J. 2014 Dec;132(6):332-8. doi: 10.1590/1516-3180-2014-1326729. Epub 2014 Sep 2. Sao Paulo Med J. 2014. PMID: 25351753 Free PMC article.

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