Article
True agonadism: report of a case analyzed with Y-specific DNA probes.
American journal of medical genetics - 15 Dec 1991
Maciel-Guerra A T, Farah S B, Garmes H M, Pinto Júnior W, Bustorff da Silva J M, Baptista M T, Marques-de-Faria A P, Guerra Júnior G, de Mello M P
Abstract excerpt
We report on a 5-year-old girl with a male karyotype (46,XY), severe psychomotor and physical retardation, minor anomalies, and female external genitalia with a blindly ending vagina. She has normal adrenal function, prepubertal serum gonadotropin and testosterone levels, which did not rise after hCG stimulation. On abdominal exploration no gonads were found, and only mesonephric and Müllerian remnants. She was...
Topics
- Child, Preschool
- DNA Probes
- Disorders of Sex Development
- Genitalia
- Humans
- Male
- Phenotype
- Testis
- Y Chromosome