Literature DB >> 2400229

XO/XY mosaicism in phenotypic males.

K Walker1, A J Gunn, P D Gluckman.   

Abstract

Eight cases of 45 XO/46 XY mosaicism are described: four were phenotypic males. Karyotyping should be performed more frequently in short boys as growth hormone treatment and testicular biopsy, to screen for carcinoma in situ, are likely to be beneficial.

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Mesh：

Year:  1990        PMID： 2400229      PMCID： PMC1792467          DOI： 10.1136/adc.65.8.891

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  6 in total

Review 1.  Abnormal infantile germ cells and development of carcinoma-in-situ in maldeveloped testes: a stereological and densitometric study.

Authors:  J Müller
Journal:  Int J Androl       Date:  1987-06

2.  Cytogenetic and clinical findings in ten 45,X/46,XY patients.

Authors:  M C Ayuso; M C Ramos; M C Bello; A Jimenez; A Sanchez Cascos; J L Herrera
Journal:  Clin Genet       Date:  1984-04       Impact factor: 4.438

Review 3.  Abnormal sexual differentiation in humans.

Authors:  J L Simpson
Journal:  Annu Rev Genet       Date:  1982       Impact factor: 16.830

4.  The age of occurrence of gonadal tumors in intersex patients with a Y chromosome.

Authors:  M Manuel; P K Katayama; H W Jones
Journal:  Am J Obstet Gynecol       Date:  1976-02-01       Impact factor: 8.661

Review 5.  Prenatal diagnosis of 45,X/46,XY mosaicism--a review and update.

Authors:  L Y Hsu
Journal:  Prenat Diagn       Date:  1989-01       Impact factor: 3.050

6.  Three-year results of a randomized prospective trial of methionyl human growth hormone and oxandrolone in Turner syndrome.

Authors:  R G Rosenfeld; R L Hintz; A J Johanson; B Sherman; J A Brasel; S Burstein; S Chernausek; P Compton; J Frane; R W Gotlin
Journal:  J Pediatr       Date:  1988-08       Impact factor: 4.406
  6 in total
  1 in total

1.  Short stature in children with an apparently normal male phenotype can be caused by 45,X/46,XY mosaicism and is susceptible to growth hormone treatment.

Authors:  Annette Richter-Unruh; Sabine Knauer-Fischer; Stefan Kaspers; Beate Albrecht; Gabriele Gillessen-Kaesbach; Berthold P Hauffa
Journal:  Eur J Pediatr       Date:  2004-02-18       Impact factor: 3.183
  1 in total

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