[Early diagnosis of Turner syndrome in a newborn].
The Turner syndrome, karyotype 45,X0 in the classical form, often remains undiagnosed until significant growth retardation is presented and sexual maturation at the puberty fails to occur. The girls are as a rule with normal IQ. We report a case of an infant of a 24 years mother after two spontaneous abortions and one birth of a normal boy. The newborn girl is with IUGR, after birth we establish edema of the feet, prominent ears and systolic murmur. The echocardiography diagnoses cardiac malformation--bicuspid aortic valve and sub aortic obstruction. The chromosomal analysis shows karyotype 45,X0. We discuss the methods for prenatal and early postnatal diagnosis. In utero and in the neonatal period there are symptoms that make the diagnosis Turner syndrome probable so that chromosomal analysis should be made to confirm it. Looking for other malformations (heart, kidney, endocrine) is necessary. The early diagnosis makes possible the beginning of appropriate hormonal treatment to achieve normal growth and to induce puberty.
Vakrilova
L
L
Dimitrova
V
V
Sluncheva
B
B
Jarukova
N
N
Pramatarova
T
T
Shishkova
R
R
Emilova
Z
Z
D000328:Adult; D042241:Early Diagnosis; D005260:Female; D006330:Heart Defects, Congenital / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014424:Turner Syndrome / Q000175:diagnosis* / Q000473:pathology; D014463:Ultrasonography; D055815:Young Adult