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Varón 46 XX, un desorden del desarrollo sexual testicular: a propósito de un caso clínico / 46 XX disturbance of testicular sexual development: report of one case
Riera C., Francisca; García B., Hernán.
  • Riera C., Francisca; Pontificia Universidad Católica de Chile. CL
  • García B., Hernán; Pontificia Universidad Católica de Chile. Unidad de Endocrinología Infantil. División de Pediatría. CL
Rev. chil. endocrinol. diabetes ; 3(4): 261-264, oct. 2010. ilus, tab
Article Dans Espagnol | LILACS | ID: lil-610266
ABSTRACT
We report a previously healthy child that consulted for the first time at the age of 11 years for short stature. At that moment, his height was 138 cm, with a mid-parental target height of 175 cm. He was in an initial pubertal stage with a Tanner II pubic hair and a testicular volume of 4 ml. Initial laboratory examination was normal and the child had a concordant bone age. He consulted again at 16 years of age, with a height of 162.4 cm (percentile 5 for age), a bone age of 18 years and a Tanner IV pubic hair, but the testicular volume persisted at 4 ml. A genetic study disclosed a 46 XX karyogram and a fluorescence in situ hybridization (FISH) for chromosomes X and Y that showed a positive sex determining region Y (SRY) in X chromosome.
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Indice: LILAS (Amériques) Limites du sujet: Adolescent / Enfant / Humains / Mâle langue: Espagnol Texte intégral: Rev. chil. endocrinol. diabetes Thème du journal: Endocrinologie Année: 2010 Type: Article Pays d'affiliation: Chili Institution/Pays d'affiliation: Pontificia Universidad Católica de Chile/CL

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Indice: LILAS (Amériques) Limites du sujet: Adolescent / Enfant / Humains / Mâle langue: Espagnol Texte intégral: Rev. chil. endocrinol. diabetes Thème du journal: Endocrinologie Année: 2010 Type: Article Pays d'affiliation: Chili Institution/Pays d'affiliation: Pontificia Universidad Católica de Chile/CL