Literature DB >> 991437

True hermaphroditism with XX/XY sex chromosome mosaicism: report of a case.

M De Marchi, A O Carbonara, F Carozzi, F Massara, L Belforte, G M Molinatti, D Bisbocci, M P Passarino, G Palestro.   

Abstract

A case of true hermaphroditism with 46, XX/46, XY karyotype is reported. The propositus, reared as a male, showed ambiguous external genitalia with perineoscrotal hypospadias, and internal genitalia represented by bilateral ovotestes, normal uterus and tubes. Periodic menstrual bleedings appeared at puberty. The endocrinologic data demonstrated the secretory activity of both the ovarian and the testicular tissue. The analysis of red cell, lymphocyte and serum markers, done on the propositus and on his parents, failed to show any evidence of double fertilization. On this basis, the origin of the XX/XY condition (mosaicism versus chimerism) and its developmental consequences are discussed.

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Year:  1976        PMID： 991437     DOI： 10.1111/j.1399-0004.1976.tb00047.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

1.  Presumptive mosaic origin of an XX/XY female with ambiguous genitalia.

Authors:  O Zuffardi; L Gargantini; S Lambiase; F Lo Curto; P Maraschio; C E Ford
Journal:  J Med Genet       Date:  1987-03       Impact factor: 6.318

2.  True hermaphrodite: 46, XX/46, XY, clinical cytogenetic and histopathological studies.

Authors:  V C Shah; D S Krishna Murthy; S Roy; P M Contractor; A V Shah
Journal:  Indian J Pediatr       Date:  1982 Nov-Dec       Impact factor: 1.967

3.  Multiparameter Investigation of a 46,XX/46,XY Tetragametic Chimeric Phenotypical Male Patient with Bilateral Scrotal Ovotestes and Ovulatory Activity.

Authors:  Yolande van Bever; Katja P Wolffenbuttel; Hennie T Brüggenwirth; Eric Blom; Annelies de Klein; Bert H J Eussen; Florijn van der Windt; Sabine E Hannema; Arianne B Dessens; Lambert C J Dorssers; Katharina Biermann; Remko Hersmus; Yolanda B de Rijke; Leendert H J Looijenga
Journal:  Sex Dev       Date:  2017-09-20       Impact factor: 1.824

4.  Unilateral true hermaphrodite with 46,XX/46,XY dispermic chimerism.

Authors:  T I Farag; S A Al-Awadi; P Tippett; M el-Sayed; T S Sundareshan; S A Al-Othman; M H el-Badramany
Journal:  J Med Genet       Date:  1987-12       Impact factor: 6.318

5.  An Optimized Method for Accurate Fetal Sex Prediction and Sex Chromosome Aneuploidy Detection in Non-Invasive Prenatal Testing.

Authors:  Ting Wang; Quanze He; Haibo Li; Jie Ding; Ping Wen; Qin Zhang; Jingjing Xiang; Qiong Li; Liming Xuan; Lingyin Kong; Yan Mao; Yijun Zhu; Jingjing Shen; Bo Liang; Hong Li
Journal:  PLoS One       Date:  2016-07-21       Impact factor: 3.240
  5 in total

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