Turner’s Syndrome- Current Approach

Turner’s Syndrome is a well recognized endocrine genetic disorder, characterized clinically by short stature; gonadal dysgenesis and some somatic anomalies; the typical karyotype is 45 XO. In 1938 H.H.Turner decribed 7 cases with sexual infantilism, congenital webbed neck and cubitas vulgus; Wilkinson & Heishman in 1944 established that underdeveloped ovaries were present in these cases i.e. the gonadal dysgenesis, a definitive evidence for X-chromosome abnormality was established in 1959.1,2 Today Turner’s syndrome(TS) is a clinical challenge for its genetic, developmental, endocrine, cardiovascular, psychosocial and reproductive related problems. One in 2500 live female birth will have Turner’s syndrome. 4,5 GENETICS AND TURNER’S SYNDROME The karyotype 45XO is found in 1 to 2 % of all pregnancies of which 99 % have spontaneous abortion. Less than 1 % rare constitute the 1 in 2500 live female births who will have features of TS.Of all TS cases 50 % will be 45XO karyotype, 25 % will have mosaicism (e.g. 45XO/46XX) and rest will have structural abnormalities like 46XiXp, 46Xixq, 46XrX, 46XXpdel, 46XXqdel. 5 PRENATAL DIAGNOSIS Prenatal suspicion of TS is made when USG shows increased nuclear transluscency, presence of cystic hygromas, coarctation of aorta, brachycephaly renal anomalies, poly hydromnios or growth retardation.6,7 Before terminating pregnancies in a suspected TS, a counseling should be done to the family explaining its broad clinical spectrum, possibility of short stature and management of ovarian failure and overall management protocol rather than giving a gloomy picture and a hurried decision of terminating the pregnancy.8 Post natal diagnosis of TS is confirmed by karyotype test in all individuals with suspected TS. INDICATIONS FOR KARYOTYPING Unexplained growth failure Edema of hands and feet Left sided cardiac anomalies Phenotypic somatic feature