The patient's external genitalia is exactly the same as that of normal women, and the clitoris is not enlarged, but the vagina is shallow and blind. No cervix, no uterus and fallopian tubes in abdominal cavity. Primary amenorrhea. Bilateral testicles can be located in abdominal cavity, groin and labia majora, with groin being the most common. Both breasts are well developed, but there are few glandular tissues, nipple dysplasia and female body shape. Another feature of this disease is that the patient has no armpit hair and pubic hair.

2. Incomplete feminization of testicles

The patient's reproductive tract, gonad, plasma sex hormones and gonadotropins, karyotype and genetic pattern are the same as those of the patient with completely feminized testis, but the vulva is masculine to varying degrees, accompanied by pubic hair and axillary hair growth. This is because the quantity or quality of androgen receptors in the target tissue is lower than the normal level rather than completely lacking, so it has different degrees of masculinity.

(1) In the patients with Lubs syndrome, some mesonephric ducts are developed, with sexual hair, showing a male figure, and then combined and fused, and the external genitalia tends to be female.

(2)Gilbert-Dreyfus syndrome (2) The patient is male, with small penis, hypospadias, partial mesonephric duct development, breast hypertrophy and medium male characteristics.

(3) Male 3)Reifenstein syndrome has short penis, hypospadias in different degrees, scrotal bifurcation, developing breast hypertrophy, sexual hair and infertility.

(4) The genitals and reproductive ducts of the male with Luo Swart syndrome are enlarged during the development period, and the fat distribution is female, with sexual hair and infertility.

(5) Patients with pseudovagina, perineum and scrotum hypospadias can't convert testosterone into 5-α dihydrotestosterone due to the defect of 5-α reductase. In this way, the penis is like the clitoris, the urethra is open in the perineum, and there is a very shallow vagina. The mesonephric duct is differentiated like a normal male, that is, the seminal vesicle, vas deferens, epididymis and ejaculatory duct open in the genital sinus, and the testis is in the groin or bifurcated scrotum. The semen of adult patients may contain mature sperm and various sperm cells. During the development period, patients have male secondary sexual characteristics: muscular and deep voice. The breast is undeveloped, the penis is enlarged and can erect and ejaculate. Hormone determination showed that the blood testosterone level was the same as that of normal men, while the level of 5-α dihydrotestosterone decreased. The level of 5-α dihydrotestosterone can hardly be detected in the foreskin, corpus cavernosum and other tissues of patients, which indicates that the lack of 5-α reductase in these tissues prevents the urogenital sinus and vulva from fully developing to men. According to the family analysis of patients, the genetic mode of patients may be autosomal recessive inheritance.