The disease is the only survivable monosomy in humans and is also known as female congenital gonadal dysgenesis or congenital ovarian dysgenesis syndrome. The disease was first reported by Turner in 1938, so it is called Turner syndrome.
I. Etiology and pathogenesis.
The pathogenesis of Turner syndrome is the non-separation of the gametes during the formation of both parents, in which about 75% of the chromosome loss occurs on the paternal side and about 10% of the loss occurs during early oogenesis after conception.
The mechanism of growth lag in Ts children may be: abnormal growth hormone secretion, genetic defects, etc.
Clinical manifestations
1. The neonatal period is characterized by backwardness in length and weight, flaccid neck skin, and dorsal lymphedema of the hands and feet.
2. Growth retardation, short stature, triangular face, often with ptosis and canthus, narrow maxillary protrusion, small and receding mandible, shark-like mouth with downward rotation of the mouth angle, short neck or neck webbing, low posterior hairline, shield-shaped chest, wide nipple spacing, multiple moles and elbow exostosis. The fourth and fifth metacarpal bones are short and inwardly curved, and often have underdeveloped nails and tibial protrusions such as sickle-shaped.
There is no pubertal development, poor ovarian development (corpus gonadalis), no follicle formation, primary amenorrhea, infantile uterus, scanty pubic hair, no axillary hair, and infertility after marriage.
4. Other congenital anomalies are often present: aortic constriction, renal anomalies (horseshoe kidney, ectopic kidney, etc.).
5. Most children have normal intelligence, but some have poor learning ability.
Chromosomal karyotype
Turner’s symptoms are mainly determined by X short-arm monosomy, but ovarian hypoplasia and infertility are more related to long-arm monosomy.
1.Haplotype: The typical karyotype of Turner syndrome, 45, XO, is the most common type.
2, Chimeric: The most common is chimeric type 45, XO/46, XX and 46, X,i (Xq). Generally speaking, the clinical manifestation of chimeric type is mild, about 20% can have pubertal development, menstruation, and some can have fertility, but the spontaneous abortion rate and stillbirth rate are high.
3. The long arm or short arm of X chromosome is isobaric.
4, One chromosome long arm or short arm deletion.
5, Ring X chromosome: 46, X, r , the size of the ring represents the degree of deletion.
6, Partially with the presence of Y chromosome. And the chimeric type with Y chromosome can show masculine features.
IV. Other laboratory tests
1.Sex hormone level monitoring: LH and FSH levels are increased, and estrogen levels are extremely low.
2. Growth curve deviates significantly from the growth curve, growth hormone excitation test shows growth hormone deficiency.
3.Pelvic ultrasound: ovaries may be striated or cystic, uterus infantile type.
4.Heart ultrasound or kidney ultrasound: congenital heart malformation or kidney malformation is found.
V. Treatment.
1.Growth hormone
2. Combined anabolic hormone
3.Estrogen and progestin replacement therapy
VI. Prognosis.
Except for a few patients with neonatal death due to severe malformation, they can generally survive and are detected only in adolescence. Their intellectual developmental disorders are also mild, and the application of hormone treatment before the age of 14 can promote the development of secondary sexual characteristics and reproductive organs, menstruation, and psychological state change, but cannot promote the growth of height, and individual patients can have children.