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
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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