Mosaic Tetrasomy 9p Case with the Phenotype Mimicking Klinefelter Syndrome and Hyporesponse of Gonadotropin-Stimulated Testosterone Production

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概要

• 論文の詳細を見る

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

• 神戸大学の論文

著者

• TAKESHIMA Yasuhiro

  Department of Pediatrics, Graduate School of Medicine, Kobe University

• MATSUO Masafumi

  Department of Pediatrics, Graduate School of Medicine, Kobe University

• Matsuo M

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Miyamoto Masaki

  Second Department Of Internal Medicine Kobe University School Of Medicine

• YAGI Mariko

  Department of Clinical Evaluation of Pharmacotherapy, Kobe University Graduate School of Medicine

• Yagami Tatsurou

  2shionogi Research Laboratories Shionogi & Co. Ltd.

• Yamamori Motohiro

  Kobe Univ. Hospital Kobe Jpn

• Yamamori Motohiro

  Department Of Hospital Pharmacy Kobe University Hospital

• Yokoyama T

  Kyoto Pharmaceutical Univ. Kyoto Jpn

• Takeshima Yasuhiro

  Department Of Pediatrics Kobe University Graduate School Of Medicine

• Matsuo Masafumi

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• NISHIYAMA Atsushi

  Department of Pediatrics, Graduate School of Medicine Kobe University

• Ogino Wakako

  Department of Pediatrics, Kobe University Graduate School of Medicine

• Oka Nobutoshi

  Department of Urology, Hara Hospital

• Nishiyama Atsushi

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Nishiyama Atsushi

  Department Of Internal Medicine Ise-keio Hospital Keio University

• Matsuo M

  Division Of Genetics International Center For Medical Research Kobe University School Of Medicine

• Ogino Wakako

  Department Of Pediatrics Kobe University Graduate School Of Medicine

• Oka Nobutoshi

  Department Of Urology Hara Hospital

• Mizutori Masakazu

  Department Of Pediatrics Graduate School Of Medicine Kobe University

• Oka Nobutoshi

  Department Of Clinical Evaluation Of Pharmacotherapy Kobe University Graduate School Of Medicine

• 八木 麻理子

  Department of Clinical Evaluation of Pharmacotherapy, Kobe University Graduate School of Medicine

• 八木 麻理子

  Department Of Clinical Evaluation Of Pharmacotherapy Kobe University Graduate School Of Medicine

• Nishiyama Atsushi

  Department Of Anesthesiology And Critical Care Medicine Kagoshima University School Of Medicine

• Yamasaki Takemi

  Hyogo Prefectural Children's Hospital

• Yamamori Motohiro

  Department Of Clinical Pharmacy School Of Pharmacy And Pharmaceutical Sciences Mukogawa Women's

• Takeshima Y

  Hyogo Prefectural Children's Hospital

• Takeshima Yasuhiro

  神戸大学 医学研究科小児科学

• MATSUO Masafumi

  Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University

• TAKESHIMA Yasuhiro

  Department of Neurosurgery, Nara Medical University

• Takeshima Yasuhiro

  Department of Hematology and Oncology, Hyogo Children's Hospital

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