Female pseudohermaphroditism

Introduction to female pseudohermaphroditism The female karyotype of the female pseudohermaphroditism is 46, XX, the gonad is the ovary, the genitalia including the uterus, the cervix and the vagina are present, but the external genitalia is partially masculine. The degree of masculinization depends on the early and late exposure of the embryo to the high androgen. And the amount of androgen, from the middle of the clitoris to the back of the labia and the appearance of the penis. The cause of excessive androgen may be due to congenital adrenal hyperplasia or a non-adrenal source. The reason for this is due to the exposure of the fetus to the environment of excessive androgen, there are three specific causes: 1 congenital adrenal hyperplasia, 21 hydroxylase or 11 hydroxylase deficiency in corticosteroid synthesis, female masculinity. 2 masculine tumors occur in mothers during pregnancy, such as ovarian cysts with excessive androgen secretion, luteal tumors or ovarian male cell tumors, or benign adrenal tumors. The mother showed masculine performance during pregnancy, and the fetus also had female genital external genital morphology. 3 The use of androgen drugs in mothers during pregnancy can also cause masculine performance of female fetuses. basic knowledge The proportion of illness: 0.001% Susceptible people: women Mode of infection: non-infectious Complications: infertility amenorrhea

Female pseudohermaphroditism

Congenital factors (40%):

Congenital adrenal hyperplasia, also known as adrenal reproductive syndrome, is an autosomal recessive hereditary disease that is the most common type of female pseudohermaphroditism. The basic lesion is the lack of some enzymes in the fetal adrenal synthesis of cortisol, the most common of which is 21-hydroxylase deficiency, which can not convert 17-hydroxyprogesterone to cortisol, when the amount of cortisol synthesis is reduced, to the hypothalamus And the negative feedback of the pituitary gland disappears, resulting in increased secretion of pituitary adrenocorticotropic hormone (ACTH), stimulates adrenal hyperplasia, and promotes the secretion of cortisol to normal, but also stimulates the abnormal growth of the adrenal reticular band. Hormone. Causes the female genitalia to be partially masculine.

Tumor factors (30%):

During pregnancy, masculine tumors such as ovarian cysts with excessive androgen secretion, luteal tumors or ovarian male cell tumors, or benign tumors of the adrenal glands occur. The mother showed masculine performance during pregnancy, and the fetus also had female genital external genital morphology.

Drug factors (30%):

Pregnant women take anti-androgenic drugs in early pregnancy: synthetic progesterone, danazol or methyltestosterone have different degrees of androgen action, if used in the early pregnancy or during pregnancy, can cause pregnancy Female fetus genital masculinization, similar to congenital adrenal hyperplasia caused by malformation, but to a lesser extent, and masculinization is no longer exacerbated after birth, to menstrual cramps during adolescence, but also normal fertility. Both blood androgen and urinary 17 ketone values were in the normal range. It can also make masculine performance of female fetuses.

Female pseudo-hermaphobia prevention

1. Do prenatal diagnosis, chorionic examination: chromosomal abnormalities in embryos are diagnosed by chorionic biopsy. This type of examination can be performed at the 8th week of pregnancy to achieve an early diagnosis.

2. Pregnant women who have taken teratogenic drugs in the early pregnancy or have had teratogenic infections or have been exposed to more rays, and who have been polluted for a long time and have too much or too little amniotic fluid should be diagnosed intrauterinely. Amniocal sac puncture can be performed: it is most suitable for 15 to 17 weeks of gestation, generally 10 to 15 ml of amniotic fluid is taken. The chemical analysis of amniotic fluid can accurately reflect the metabolic status of the fetus, and the chromosome analysis of amniotic fluid cells can accurately reflect the genetic status of the fetus.

Female pseudohermaphroditism complications Complications infertility amenorrhea

The chromosomal karyotype of female pseudo-hermaphroditism is 46XX, the gonad is ovary, and the external genitalia has male manifestations, such as enlarged clitoris, hypospadias, and labia minora closure. The main complication is secondary infertility. Education, amenorrhea, etc.

Female pseudohermaphroditism symptoms Common symptoms Amenorrhea maleized labia fusion clitoris hypertrophy excessive hair

The gonad is the ovary, while the external genitalia has male manifestations, such as enlarged clitoris, hypospadias, and labia minora closure. The external genitalia is partially masculine, from the middle of the clitoris to the posterior part of the labia and the penis. The degree of masculinity depends on the amount of morning and evening and androgen when the embryo is exposed to high androgens.

The clinical symptoms are amenorrhea, genital dysplasia, difficulty in distinguishing gender, and low voice. Short stature, clitoris hypertrophy, labia fusion, hairy. Uterus, ovaries and vagina develop normally.

Examination of female pseudohermaphroditism

1. Clinical examination: It is difficult to determine gender from the external genitalia, and it is similar to the true hermaphroditism. Usually, the patient has a clitoris hypertrophy at birth, the labia fusion covers the vaginal opening and the urethral opening, and only a small hole is seen under the clitoris, and the urine is discharged. In severe cases, the labia majora is thick and wrinkled, and has a degree of fusion. It resembles a scrotum, but there is no testicular spasm; the uterus, fallopian tubes, and vagina are present, but the lower vagina is narrow, and it is difficult to find the vaginal opening. As the baby grows up, masculinity becomes more and more obvious. When a few years old, there are pubic hair and mane, and the breasts are not developed during adolescence, the development of internal genitalia is inhibited, and there is no menstrual cramps. Although the height of the young girl grows fast, the bones heal early, and they are shorter than normal women in adulthood.

2. Laboratory examination: blood androgen content increased, urinary 17 ketone was high, blood estrogen and FSH were low, serum ACTH and 17-hydroxyprogesterone were significantly increased. Female masculinity appears in the absence of 21 hydroxylase or 11 hydroxylase in corticosteroid synthesis.

3. Imaging examination: B-ultrasound and CT examination often show bilateral adrenal enlargement or occupying position.

Diagnosis and diagnosis of female pseudohermaphroditism

According to clinical manifestations and laboratory tests can be diagnosed. Sexual malformations can be caused by heredity of masculinization or heredity to men but masculinity. Clinically, congenital adrenal hyperplasia and androgen insensitivity syndrome are the most common. The diagnostic steps are as follows:

1. History and physical examination should first ask the patient's mother to take a history of high-efficiency progesterone or danazol in the first trimester, whether there is a similar history of malformation in the family, and detailed physical examination. Pay attention to the size of the penis, the position of the urethra, whether there is vaginal and uterus, rectum, abdominal examination and uterus indicate multiple female pseudohermaphroditism, but the possibility of true hermaphroditism should be excluded. If the groin and gonads in the groin, labia majora or scrotum are without exception, testicular tissue, but true hermaphroditism cannot be ruled out.

2. Laboratory examination of karyotype is 46, XX, blood estrogen is low, blood androgen is high, urine 17-ketone and 17-hydroxyprogesterone are high, for congenital adrenal hyperplasia. The karyotype is 46, XY, the blood FSH value is normal, the LH value is increased, the blood testosterone is in the normal male range, and the estrogen is higher than the normal male but lower than the normal female value, and the androgen insensitivity syndrome.

3. Genital gland biopsy for true hermaphroditism often requires gonad biopsy through laparoscopic or laparotomy to confirm the diagnosis.

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