ABSTRACT
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.
Subject(s)
Disorders of Sex Development/genetics , Proto-Oncogene Proteins/genetics , Child, Preschool , Disorders of Sex Development/blood , Female , Genetic Testing , Humans , Infant , Infant, Newborn , Leukocytes/chemistry , Mutation , Wnt Proteins , Wnt4 ProteinABSTRACT
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.
