Revanstein syndrome
Introduction
Introduction to Refanstein Syndrome Refanstein syndrome (Reifenstein syndrome) is an X-linked recessive genetic disease. basic knowledge The proportion of illness: 0.001% Susceptible people: no special people Mode of infection: non-infectious Complications: cryptorchidism
Cause
Cause of Levantstein Syndrome
Hormone factors:
The cause of Levantstein syndrome is the same as the feminization of testis, which is caused by point mutation of AR gene. The mutation mainly occurs in the DNA binding region and the androgen binding region, and most of them are mutual substitution of basic amino acids, such as histidine substituted sperm. Proline or methionine replaces proline or the like.
Pathogenesis
These conserved amino acid mutations cause the loss of AR function to be less severe than that of the testis, and the patient's clinical manifestations are relatively mild, with only partial androgen resistance.
In general, the same mutation in the AR gene will have similar clinical manifestations, but in fact the same mutation can have different clinical manifestations. For example, the arginine at position 855 of the androgen binding region of the AR gene is replaced by histidine. The clinical manifestation of the patient is Levantin's syndrome, and the substitution of cystine or leucine is manifested as feminization of the testis, indicating that there are other factors in the process of androgen-induced masculinization.
Prevention
Levantine Syndrome Prevention
The disease is X-linked recessive inheritance, and there is no clear prevention data.
Complication
Recurrence syndrome complications Complications cryptorchidism
There may be heterogeneity. The external genitalia may be perineal or scrotal type hypospadias, blind pocket vagina, clitoris hypertrophy and cryptorchidism. It may also be a small penis with partial labial scrotal sac fusion or a double-seg scrotum without uterus and fallopian tubes, epididymis and vas deferens. Insufficiency to puberty, pubic hair, mane and man's breast development, testicular small, no sperm histopathological examination showed that spermatogenesis stayed in the primary spermatocyte stage. Increased plasma LH and testosterone levels increase testosterone and E2 production. E2 levels are associated with feminine signs such as breast development during puberty, but feminization is less feminine than testicular feminization.
Symptom
Symfans syndrome symptoms common symptoms clitoris hypertrophy blind vaginal congenital absence of uterus
The clinical manifestations of the disease are heterogeneous, the external genitalia can be perineal or scrotal type hypospadias, blind pocket vagina, clitoris hypertrophy and cryptorchidism, or small penis with partial labia scrotum pleat fusion or bilobal scrotum, No uterus and fallopian tubes, epididymis and vas deferens dysplasia, puberty, pubic hair, mane and man's breast development, testicles small, no sperm, histopathological examination showed that spermatogenesis stayed in the primary spermatocyte stage, plasma LH and testosterone levels increased The production rate of testosterone and E2 is increased, and the increase of E2 level is related to the feminine signs such as breast development during puberty, but the degree of feminization is lighter than that of testis.
The clinical manifestations of Levantin's syndrome are similar to those of steroid 5-reductase 2 deficiency or 17-HSD3 deficiency, especially in prepubertal patients, where plasma MIF levels increase after the first year of life and after puberty. Hormone resistance syndrome, genital skin biopsy fibroblast culture can evaluate the amount of androgen receptor and the degree of abnormality of the hormone, and the amino acid sequence analysis of the AR gene can determine the site of the mutation.
Examine
Examination of Levantstein syndrome
Plasma LH and testosterone levels increased, testosterone and E2 production increased, and E2 levels increased.
1. Histopathological examination showed that spermatogenesis stayed in the primary spermatocyte stage.
2. B-ultrasound examination without uterus and fallopian tubes, epididymis and vas deferens hypoplasia.
Diagnosis
Diagnosis and diagnosis of Levantine syndrome
HCG stimulation test to observe testosterone, 4A and DHT levels and 4A / T and T / DHT ratio, help to distinguish between Rayfanstein syndrome and the other two male pseudohermaphroditism.
