non-adrenergic proliferative pseudohermaphroditism
Introduction
Introduction to non-adrenergic pseudo-sexual malformations During pregnancy, especially in the first trimester, pregnant women, such as progesterone, estrogen and androgen, may masculine female embryos or fetuses. Taking estrogen at different times during pregnancy is also inconsistent in the masculinization of female fetuses. If sex hormones are taken before 12 weeks of gestation, the closure of the lips and sacs is more obvious; if the sex hormones are used after 12 weeks of gestation, the enlargement of the clitoris is more obvious, and sometimes the vaginal opening is open to the urethra, but it is less common. basic knowledge The proportion of illness: 0.0002% - 0.0005% Susceptible people: more common in the fetus Mode of infection: non-infectious Complications: male pseudohermaphroditism
Cause
Non-adrenergic pseudo-sexual malformation
Causes:
Abnormal sexual differentiation caused by maternal and exogenous androgen, including progesterone with latent androgenic activity during the first trimester (19-desmethyltestosterone derivatives, including ethinyl progesterone, norethisterone, isoacetylene Norodone, danazol, gestrinone, levonorgestrel and medroxyprogesterone) and androgen preparations cause masculinization, and the second trimester application only causes clitoris hypertrophy, urogenital sinus malformation, maternal gestational age Male tumors include arrhenoblastomas, metastatic ovarian cancer (Krükenberg tumors), luteomas, lipoid tumors, stromal cell tumors, and stromal cell hyperplasia ( Hyperthecosis) can also cause masculinization of female fetuses.
Pathogenesis:
The incidence of masculinity during pregnancy is related to the following factors: such as the type and dose of sex hormones; morning and evening during pregnancy; permeability and metabolism of placenta; metabolism and degradation of exogenous hormones in pregnant women; and fetal reproductive system organization Sex hormone sensitivity and metabolic dysfunction.
The progesterone used in the treatment of threatened abortion is mostly synthetic preparations, and its biological action characteristics not only have the effect of progesterone, but also the action of androgen, and the effect of synthetic progesterone is more than 10 times stronger than the natural progesterone, and its excretion Slow, long-acting time, it is easy to lead to masculinization of female fetuses. The estrogen-induced female fetus is male because the synthetic estrogen can cause the metabolism of progesterone to produce androgen, and the synthetic estrogen can stimulate The adrenal cortex of the fetus promotes its secretion of androgens.
Prevention
Non-adrenergic pseudo-sexual malformation prevention
Clinical analysis shows that most of these small patients are not due to lack of nutrition during pregnancy, but lack the necessary folic acid in nutrition. Curry pointed out that the study found that this fetal malformation often occurs in the second and third weeks of pregnancy, and folic acid has the function of preventing fetal malformation. Therefore, it is most reasonable for women to take folic acid before pregnancy. Of course, pregnant women supplemented with appropriate amount of folic acid during pregnancy can also ensure the healthy development of the fetus and reduce the proportion of neonatal patients with such physiological defects. Folic acid belongs to B vitamins and is widely found in green leaves. It is also rich in tortillas, beans, animal liver, kidney and yeast. Folic acid preparations are generally used to treat pregnancy and nutritional megaloblastic anemia.
Complication
Non-adrenal proliferative pseudohermaphroditism complications Complications male pseudohermaphroditism
1, male fetus masculine: due to the role of estrogen and progesterone, and the role of synthetic progesterone is more than 10 times stronger than the natural progesterone, its excretion is slow, the action time is longer, causing feminine fetus.
2, endocrine system diseases: due to endocrine glands or endocrine tissue itself, the secretion function and / or structural abnormalities occur in the syndrome, but also include abnormal hormone sources, hormone receptor abnormalities and physiological disorders caused by hormone or substance metabolism disorders.
Symptom
Non-adrenergic pseudo-sexual malformation symptoms common symptoms hermaphroditism masculine developmental malformation
Taking estrogen at different times during pregnancy is also inconsistent in the masculinization of female fetuses. If sex hormones are taken before 12 weeks of gestation, the closure of the lips is more obvious; if sex hormones are used, the clitoris increases after 12 weeks of gestation. It is obvious that sometimes the vaginal opening is open to the urethra, but it is less common. The degree of masculinization of the female fetus after taking androgen seems to be lighter, and the enlarged clitoris can be gradually reduced after birth.
Examine
Examination of non-adrenal hyperplastic pseudohermaphroditism
Sexual chromatin was positive, karyotype 46XX, 24h urinary 17-ketosteroids and gestational triol increased. B-ultrasound, CT examination sometimes shows bilateral adrenal enlargement or a place.
Diagnosis
Diagnosis and diagnosis of non-adrenergic pseudo-sexual malformation
Diagnostic criteria
1 Female genital hermaphroditism after birth.
2 The mother had a history of applying sex hormone preparations during pregnancy.
3 The mother has or does not have masculine performance.
4 imaging examination of the ovary or adrenal gland found tumor.
5 The baby girl has normal growth and development after birth, has normal puberty development, and has no physical and metabolic abnormalities caused by E2 synthetic disorders.
Differential diagnosis
1. Male pseudohermaphroditism: The appearance is similar to that of female pseudohermaphroditism, but the sex chromatin is negative and the karyotype is 46XY.
2. True hermaphroditism: Sometimes the external genitalia is like a female, similar to the female pseudohermaphroditism, but its internal and external genitalia are ambiguous. The gonadal biopsy has both testis and ovarian tissue, and the 24-h urine 17-ketosteroid is normal.
