Question
Can a normal ultrasound confirm the absence of Turner’s syndrome? Please provide patient information and test results.
Answer
Congenital ovarian hypoplasia, also known as Turner’s syndrome, is a congenital disease caused by chromosomal abnormalities. Patients have ovarian tissue that appears as strands of fibrous tissue, lacking primordial follicles and eggs, and lack female hormones, leading to underdevelopment of secondary sexual characteristics and primary amenorrhea. Typical features of Turner’s syndrome include short stature and weight, marked edema on the back of hands and feet, loose skin on the sides of the neck, slow growth in height after birth, and an adult height of about 135-140 centimeters. Other clinical features include female characteristics, a low posterior hairline, webbing between toes, shield-shaped chest, widely spaced nipples, elbow varus, and multiple moles. Approximately 35% of children with Turner’s syndrome have congenital heart defects, such as coarctation of the aorta, as well as renal anomalies. It is generally recommended to diagnose Turner’s syndrome through chromosome testing combined with clinical manifestations.