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[Mixed gonadal dysgenesis]. 2004

Katsuya Nonomura, and Hidehiro Kakizaki, and Takashi Shibata, and Kimihiko Moriya
Department of Urology, Renal and Genito-Urinary Surgery, Hokkaido University, Graduate School of Medicine.

Testicular dysgenesis derives from abnormal gonadal differentiation caused by sex chromosome abnormality. Individuals with sex chromosomal mosaicism manifest diverse phenotypes from phenotypic females and individuals with mixed gonadal dysgenesis (MGD) to males. Gonadal asymmetry in MGD is cytogenetically due to local prevalence of cell lines carrying different karyotypes; XO in the streak gonad and XY in the dysgenetic testis while sex chromosome abnormalities in blood do not always reflect the genital abnormalities. Gender assignment should be based on the potential for normal function of the external genitalia under the parents agreement. Laparoscopic and microscopic surgery facilitates the diagnosis and treatment in infants with MGD and its variants. Close follow-up is mandatory for detecting the highly prevalent gonadal tumor in male subjects.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D008297 Male Males
D009030 Mosaicism The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
D011379 Prognosis A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations. Prognostic Factor,Prognostic Factors,Factor, Prognostic,Factors, Prognostic,Prognoses
D005260 Female Females
D005835 Genitalia The external and internal organs involved in the functions of REPRODUCTION. Accessory Sex Organs,Genital Organs,Sex Organs, Accessory,Genital System,Genitals,Reproductive Organs,Reproductive System,Accessory Sex Organ,Genital,Genital Organ,Genital Systems,Organ, Accessory Sex,Organ, Genital,Organ, Reproductive,Organs, Accessory Sex,Organs, Genital,Organs, Reproductive,Reproductive Organ,Reproductive Systems,Sex Organ, Accessory,System, Genital,System, Reproductive,Systems, Genital,Systems, Reproductive
D006060 Gonadal Dysgenesis, Mixed A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution. Mixed Gonadal Dysgenesis
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D012729 Sex Chromosome Aberrations Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT. Sex Chromosome Abnormalities,Abnormalities, Sex Chromosome,Chromosome Abnormalities, Sex,Aberration, Sex Chromosome,Aberrations, Sex Chromosome,Abnormality, Sex Chromosome,Chromosome Aberration, Sex,Chromosome Aberrations, Sex,Chromosome Abnormality, Sex,Sex Chromosome Aberration,Sex Chromosome Abnormality
D012732 Sex Determination Analysis Validation of the SEX of an individual by inspection of the GONADS and/or by genetic tests. Sex Determination Techniques,Sex Determination Technics,Analyses, Sex Determination,Analysis, Sex Determination,Sex Determination Analyses,Sex Determination Technic,Sex Determination Technique,Technic, Sex Determination,Technics, Sex Determination,Technique, Sex Determination,Techniques, Sex Determination

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