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1.
Mol Genet Metab ; 83(4): 341-3, 2004 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-15589122

RESUMEN

We investigated if eight SRY-negative 46,XX true hermaphrodites presented mutations in WNT-4, in blood leukocytes and/or gonadal tissue, as the cause of their disorder. We designed the sequences of the reverse primer of exon 1 and the primers of exons 2-5. Direct sequencing of all five exons demonstrated no mutant alleles in any of the patients. The possibility of the existence of causative mutations in the untranslated regions of WNT-4, or within introns cannot be ruled out.


Asunto(s)
Trastornos del Desarrollo Sexual/genética , Proteínas Proto-Oncogénicas/genética , Preescolar , Trastornos del Desarrollo Sexual/sangre , Femenino , Pruebas Genéticas , Humanos , Lactante , Recién Nacido , Leucocitos/química , Mutación , Proteínas Wnt , Proteína Wnt4
2.
J Pediatr Endocrinol Metab ; 16(8): 1165-73, 2003.
Artículo en Inglés | MEDLINE | ID: mdl-14594177

RESUMEN

This was a prospective, longitudinal and descriptive study of 117 Mexican girls with Turner's syndrome (TS) followed from diagnosis to 18 years old. Height, weight and growth velocity were evaluated every 4-6 months, and bone age was assessed annually. Adult height was reached in 87 girls. All the girls were treated during 1 year with conjugated estrogens at bone age of 12 years, and subsequently with mixed estrogen/progestogen. Growth retardation in girls with TS is apparent at birth (2.7 +/- 0.9 kg and 46.3 +/- 5.0 cm) and in childhood, but becomes most marked when puberty would normally occur. Mean growth velocity was less than 25th percentile from birth to 2 years, less than 10th percentile between 3-9 years, and less than 3rd percentile from 10 to 18 years of age. Final adult height was 136.9 +/- 5.5 cm, but it is affected by the particular karyotype: 46,Xi(Xq): 134.5 cm, 45,XO: 137.3 cm, and 45XO/46,XX: 139 cm.


Asunto(s)
Estatura/etnología , Estatura/genética , Crecimiento/genética , Síndrome de Turner/genética , Síndrome de Turner/fisiopatología , Determinación de la Edad por el Esqueleto/métodos , Estatura/efectos de los fármacos , Cromosomas Humanos X/genética , Estudios de Cohortes , Esquema de Medicación , Estrógenos/uso terapéutico , Estrógenos Conjugados (USP)/uso terapéutico , Femenino , Retardo del Crecimiento Fetal/etnología , Retardo del Crecimiento Fetal/genética , Crecimiento/efectos de los fármacos , Humanos , Cariotipificación , México , Progesterona/uso terapéutico , Pubertad/genética , Aberraciones Cromosómicas Sexuales/estadística & datos numéricos , Factores Socioeconómicos , Síndrome de Turner/tratamiento farmacológico
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