What is Turner syndrome?

Turner syndrome is also known as congenital ovarian hypoplasia and gonadal hypoplasia. Turner’s syndrome is the most common sex chromosome abnormality, first identified by Turner in 1938, and accounts for 1 in 5,000 female births. 99% of Turner’s syndromes are spontaneously aborted during the embryonic period, accounting for approximately 15% of all spontaneous abortions in early pregnancy. Typical clinical manifestations include short stature, low posterior hairline, webbed neck, flat and wide chest, widely spaced nipples, and gonadal hypoplasia characterized by striated ovaries. Ovarian hypoplasia is the characteristic manifestation of Turner syndrome. The ovaries are almost normal in the early stages but quickly atrophy to a corpuscular shape; most of the pubertal patients have follicle-free structures and lose normal function, resulting in severely low estrogen levels and increased gonadotropin levels, so most patients have primary amenorrhea and infertility. Only 10%-20% of patients show natural pubertal development; only 2%-5% of patients experience menarche or regular menstruation, but it lasts only a few months or years, followed by early menopause. The severity of secondary sexual characteristics, such as pubic hair, vulva and mammary glands, varies from patient to patient. Once diagnosed, patients should undergo a comprehensive physical examination, including gonadal pathology, bone densitometry, androgen receptor gene testing and SRY gene testing, in addition to the general physical examination, and timely treatment accordingly. Prevention: 1. Both parents, especially the father, should stay away from various factors that induce chromosomal aberrations before pregnancy, such as drugs, radiation, chemical substances, etc. 2. Ultrasound examination during pregnancy combined with maternal serum biochemical index screening can screen out most cases. 3. For patients with karyotype 45, X/46, XY, special attention should be paid to the occurrence of adenocytoma, and regular ultrasound examination should be performed or necessary gonadal biopsies, or caesarean section and necessary surgery during childhood.