Article
[Low stature in males with normal phenotype and 45,X/46,XY mosaicism].
Anales de pediatria (Barcelona, Spain : 2003) - 1 Feb 2008
Lara Orejas E, Golmayo Gaztelu L, Núñez Estevez M, San Román Cos-Gayón M A, Alonso Blanco M, Barrio Castellanos R
Abstract excerpt
There is wide variation in the clinical expression of 45,X/46,XY mosaicism. Ninety percent of prenatally diagnosed boys have normal male phenotype at birth, while those diagnosed postnatally show a wide spectrum of phenotypes, ranging from Turner syndrome, mixed gonadal dysgenesis, and male pseudohermaphroditism to apparent normality. We report the clinical, cytogenetic, endocrinologic and histologic findings in...
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