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Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production.
Kobe J Med Sci. 2007; 53(4):143-50.KJ

Abstract

Tetrasomy 9p is a rare clinical syndrome and about 30% of known cases exhibit chromosome mosaicism. The cases with tetrasomy 9p mosaicism have been reported to show the various phenotypes. On the other hand, Klinefelter syndrome is well recognized chromosomal abnormality caused by an additional X chromosome in males (47,XXY), and the characteristic clinical findings include tall stature, immaturity of external genitalia, testicular dysfunction. Here, we report a 10-year-old male with tetrasomy of 9p mosaicism, whose phenotypic feature is mimicking Klinefelter syndrome. He was referred to our hospital for inconspicuous penis. He showed tall height (+2.5 SD). Endocrinological examination revealed the poor testosterone response to human chorionic gonadotropin administration, which indicated the testicular hypofunction, whereas MRI revealed concealed penis as a cause of inconspicuous penis. Because of the phenotype mimicking Klinefelter syndrome, karyotype of his blood lymphocytes was analyzed, and an additional marker chromosome was detected in 6% of the investigated metaphases. Fluorescence in situ hybridization analysis revealed that the marker chromosome was an isochromosome 9p, which resulted in tetrasomy 9p. Chromosome analysis of buccal smear also showed mosaicism for two karyotypes: 5% of cells had the isochromosome of 9p, and the other cells showed normal. This case is the second case with tetrasomy 9p mosaicism mimicking Klinefelter syndrome phenotype in the world. Our case, together with previously reported cases with the same association, indicates the possibility of testicular hypofunction and urogenital anomalies induced by overexpression of some genes on chromosome 9p.

Authors+Show Affiliations

Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Review

Language

eng

PubMed ID

17932453

Citation

Ogino, Wakako, et al. "Mosaic Tetrasomy 9p Case With the Phenotype Mimicking Klinefelter Syndrome and Hyporesponse of Gonadotropin-stimulated Testosterone Production." The Kobe Journal of Medical Sciences, vol. 53, no. 4, 2007, pp. 143-50.
Ogino W, Takeshima Y, Nishiyama A, et al. Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production. Kobe J Med Sci. 2007;53(4):143-50.
Ogino, W., Takeshima, Y., Nishiyama, A., Yagi, M., Oka, N., & Matsuo, M. (2007). Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production. The Kobe Journal of Medical Sciences, 53(4), 143-50.
Ogino W, et al. Mosaic Tetrasomy 9p Case With the Phenotype Mimicking Klinefelter Syndrome and Hyporesponse of Gonadotropin-stimulated Testosterone Production. Kobe J Med Sci. 2007;53(4):143-50. PubMed PMID: 17932453.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mosaic tetrasomy 9p case with the phenotype mimicking Klinefelter syndrome and hyporesponse of gonadotropin-stimulated testosterone production. AU - Ogino,Wakako, AU - Takeshima,Yasuhiro, AU - Nishiyama,Atsushi, AU - Yagi,Mariko, AU - Oka,Nobutoshi, AU - Matsuo,Masafumi, PY - 2007/10/13/pubmed PY - 2008/8/13/medline PY - 2007/10/13/entrez SP - 143 EP - 50 JF - The Kobe journal of medical sciences JO - Kobe J Med Sci VL - 53 IS - 4 N2 - Tetrasomy 9p is a rare clinical syndrome and about 30% of known cases exhibit chromosome mosaicism. The cases with tetrasomy 9p mosaicism have been reported to show the various phenotypes. On the other hand, Klinefelter syndrome is well recognized chromosomal abnormality caused by an additional X chromosome in males (47,XXY), and the characteristic clinical findings include tall stature, immaturity of external genitalia, testicular dysfunction. Here, we report a 10-year-old male with tetrasomy of 9p mosaicism, whose phenotypic feature is mimicking Klinefelter syndrome. He was referred to our hospital for inconspicuous penis. He showed tall height (+2.5 SD). Endocrinological examination revealed the poor testosterone response to human chorionic gonadotropin administration, which indicated the testicular hypofunction, whereas MRI revealed concealed penis as a cause of inconspicuous penis. Because of the phenotype mimicking Klinefelter syndrome, karyotype of his blood lymphocytes was analyzed, and an additional marker chromosome was detected in 6% of the investigated metaphases. Fluorescence in situ hybridization analysis revealed that the marker chromosome was an isochromosome 9p, which resulted in tetrasomy 9p. Chromosome analysis of buccal smear also showed mosaicism for two karyotypes: 5% of cells had the isochromosome of 9p, and the other cells showed normal. This case is the second case with tetrasomy 9p mosaicism mimicking Klinefelter syndrome phenotype in the world. Our case, together with previously reported cases with the same association, indicates the possibility of testicular hypofunction and urogenital anomalies induced by overexpression of some genes on chromosome 9p. SN - 1883-0498 UR - https://www.unboundmedicine.com/medline/citation/17932453/Mosaic_tetrasomy_9p_case_with_the_phenotype_mimicking_Klinefelter_syndrome_and_hyporesponse_of_gonadotropin_stimulated_testosterone_production_ L2 - http://www.med.kobe-u.ac.jp/journal/contents/53/143.pdf DB - PRIME DP - Unbound Medicine ER -