[Turner's syndrome, diagnosis and therapeutical approach]. / Sindromul Turner. Abordare diagnostica si terapeutica actuala.

ABSTRACT

Turner's Syndrome is a rare chromosomal disorder of females (1 2500) characterized by short stature and the lack of sexual development at puberty. Other physical features may include a webbed neck, heart defects, kidney abnormalities, and/or various other malformations. Diagnosis should be considered in individuals with primary or secondary amenorrhea and adult women with unexplained infertility, particularly when such individuals also are short in stature. In childhood, growth hormone therapy is standard to prevent short stature as an adult. Estrogen replacement therapy usually is required, but starting too early can compromise adult height. The most frequent, the possibility of a good diagnosis appears at puberty. The early diagnosis needs the karyotyping as screening method. The correct treatment, which is made on time, has a good mental and social life influence.