Pseudohermaphroditism

　　The causes of pseudohermaphroditism are due to the fetus being exposed to an environment with excessive androgens. The specific causes include: ① Congenital adrenal hyperplasia, where the deficiency of 21-hydroxylase or 11-hydroxylase in corticosteroid synthesis results in female masculinization. ② The mother develops masculinization tumors during pregnancy, such as ovarian cysts, luteinomas, or arrhenoblastomas that secrete excessive androgens, or benign adrenal tumors. The mother exhibits masculinization during pregnancy, and the fetus also develops female masculinization of the external genitalia. ③ The mother uses androgenic drugs during pregnancy, which can also cause feminization in female fetuses.

　　Male pseudohermaphroditism: The children with male pseudohermaphroditism have a male karyotype of 46,XY, and the gonads are testes or absent. The reasons are relatively complex.

　　① Gonadal dysgenesis: Complete or partial gonadal dysgenesis in XY individuals with complete or partial H-Y antigen-positive gonadal dysgenesis and poor testicular differentiation. This may be due to the inability to release H-Y antigen or due to the lack of functional H-Y antigen.

　　When there is a lack of mullerian inhibitory factor and the secretion of embryonic testosterone, 46,XY males will exhibit female internal reproductive organs and bilateral streak-like gonads.

　　Hereditary gonadal dysgenesis is X-linked recessive or dominant inheritance.

　　Congenital anochia agenosis, also known as vanishing testes syndrome, refers to a condition where the testes are present and secrete testosterone during early embryonic development, resulting in normal differentiation of male internal and external reproductive organs, but no testes exist in the body (not cryptorchidism).

　　③Lack of gonadotropin: Gonadotropin deficiency can cause abnormal sexual differentiation and is seen in Kallmann's syndrome, where patients have a lack of gonadotropins and anosmia as well as a small penis. During fetal development, due to the lack of LH stimulation of testosterone secretion, the penis cannot develop appropriately during the intrauterine period. Additionally, there may be a lack of bioactivity of LH or/and FSH, which can also cause incomplete masculinization of the external genitalia. These cases can respond to hCG stimulation.

　　④Lack of testosterone synthesis enzyme: Due to the lack of enzymes that synthesize testosterone, the synthesis of testosterone is reduced during the embryonic period, causing various developmental defects of male internal reproductive organs and incomplete masculinization of external genitalia. At birth, this is manifested as ambiguous external genitalia. In cases of complete lack of certain enzymes, such as 3β-hydroxysteroid dehydrogenase and 17-hydroxylase, the external genitalia may appear female, while incomplete lack may manifest as small penis, scrotal cleft, and hypospadias, etc.

　　⑤End-organ unresponsiveness to androgens: This can be seen in androgen receptor binding defects and can manifest as a typical testicular feminization syndrome (testicular feminization syndrome), with normal or elevated levels of testosterone and dehydroepiandrosterone in the blood, as well as increased estradiol. LH secretion increases, leading to male breast development and primary amenorrhea.

　　⑥5α-Reductase deficiency: Due to the inability to convert testosterone to dihydrotestosterone, the differentiation and development of external genitalia cannot fully become male. It is manifested as a newborn with a small penis and urogenital sinus, with two openings at the base of the penis, one being the urethral opening and the other being a blind vaginal indentation. Most patients are raised as females, but partial male sexual characteristics appear during puberty, and the ratio of testosterone to dihydrotestosterone is abnormally high. This disease is an autosomal recessive inheritance.

　　The most serious complication of pseudohermaphroditism is secondary infertility.

　　Male pseudohermaphroditism can also lead to the following complications:

　　Small Penis: Small penis (micropenis) refers to a penis that appears normal in appearance, with a normal length-to-diameter ratio, but whose body length is less than 2.5 standard deviations below the average length of a normal penis. The length of the penis refers to the distance from the tip of the penis to the symphysis pubis when the penis head is pulled straight with the hand, which is equivalent to the distance from the top of the penis to the symphysis pubis when the penis is fully erect. In adults, a small penis is generally defined as having a flaccid length of less than 3 cm.

　　Hypospadias: Hypospadias is the condition where the urethral opening is abnormally located on the ventral side of the urethra. The urethral opening can occur at any position between the perineum and the glans penis. The distal end of the urethral orifice, as well as the underdevelopment of the urethra and surrounding tissues, can cause fibrous bands to pull the penis, making it bend towards the ventral side. Not all congenital penile curvature cases have hypospadias, but all cases of hypospadias have varying degrees of penile curvature.

　　Cryptorchidism: Cryptorchidism refers to the condition where one or both testicles of a male infant do not descend into the scrotum but remain at any point along their normal descent process. This means that there are no testicles in the scrotum or only one side has a testicle.

　　Pseudohermaphroditism can be divided into 'male pseudohermaphroditism' and 'female pseudohermaphroditism' people.

　　Female pseudohermaphroditism

　　'Female pseudohermaphroditism' refers to a condition where the patient's internal reproductive glands are ovaries, but the external genitalia resemble male reproductive organs. For example, the clitoris is particularly fat like a boy's penis, the labia majora are fused, and some ovaries are descended excessively, descending into the labia majora and resembling a scrotum, but there are no testicles. There is a Adam's apple, and a beard grows. Patients with this kind of malformation are easily taken as boys by their parents after birth for nurturing and education, and are misunderstood as males by people around them.

　　Male pseudohermaphroditism

　　While 'male pseudohermaphroditism' refers to a condition where the patient's internal reproductive glands are testicles, but the external genitalia resemble female external genitalia. Men with this kind of malformation have a shrunken penis, like a female clitoris, a urethral opening similar to a female vaginal opening, the scrotum is separated, resembling a female labia majora. The testicles are mostly cryptorchid, hidden in the abdomen, inguinal canal, or similar to the labia majora of a female. People with this kind of malformation are easily taken as females by their parents after birth for nurturing and education. Some patients have underdeveloped testicles, and after puberty, male characteristics are still not obvious. Some patients can achieve erections and have sexual intercourse and ejaculation after adulthood, and even have the ability to reproduce.

　　(1) Testicular feminization syndrome

　　Testicular feminization syndrome is relatively common in male pseudohermaphroditism. It was first reported in 1817. In 1953, Morris proposed the term 'testicular feminization', which has been used until now. In recent years, some people have proposed it as 'androgen insensitivity syndrome'.

　　(2) Deficiency of anti-mesonephric duct hormone

　　The mesonephric duct develops normally, and the mesonephric duct does not regress completely. The clinical manifestation is male, but the secondary sexual characteristics are not obvious, with fine hair, delicate skin, incomplete sexual function, and may appear underdeveloped uterus and fallopian tubes.

　　For male pseudohermaphroditism, the focus of treatment should be on gender selection and gonad treatment. After appropriate treatment, it is generally difficult to maintain fertility. Therefore, we believe that gender treatment should be aimed at developing towards femininity as much as possible.

　　(3) Congenital hypogonadism syndrome

　　Congenital hypogonadism syndrome, also known as microorchidism (Klinefelter's syndrome, abbreviated as Klinefelter's syndrome), Klinefelter first discovered and described small testicles and breast development during puberty as clinical features in 1942. In 1959, Jacobs et al. first discovered a case of Klinefelter's syndrome using cytogenetic methods, confirming that his chromosomes were abnormal.

　　1. Regular inspections. Pregnancy is a major event in life, and some congenital abnormalities can be detected through certain checks during pregnancy. Therefore, it is required that women should regularly perform the corresponding inspections during pregnancy. If the child shows a tendency of developmental abnormalities, chromosomal screening should be done in a timely manner, and if confirmed, artificial abortion should be performed promptly to avoid the birth of a child with a disease. Therefore, parents can understand the early symptoms of male pseudohermaphroditism to be able to detect abnormalities in a timely manner.

　　2. Clarify gender. After the newborn is born, it is generally checked carefully to determine the gender of the newborn. If an abnormality in the reproductive organs is found, and it is diagnosed as pseudohermaphroditism in a timely manner after immediate examination, it should be determined before the age of 2, otherwise, after this time, the child has already developed a certain psychological development, and changing it may cause a shadow or adverse effects on the child's psychology.

　　3. Active treatment. If the deformity of the child is found to be deformed after the age of two, then at this time, it is necessary to make a comprehensive decision based on the morphology of the external genitalia and social gender, because at this time, the child often has a certain ability of cognition and judgment. At the same time, choose the corresponding shaping surgery, and give the corresponding sex hormone treatment to promote the development of corresponding secondary sexual characteristics.

　　1. Complete testicular feminization reproductive hormone determination shows that serum FSH and LH are normal or slightly elevated, testosterone concentration is equivalent to that of adult males, and estradiol concentration is higher than that of adult males. Testicular biopsy shows that the testis volume is small, the white membrane is smooth, the vas deferens, epididymis, and seminiferous tubules are underdeveloped, the tubular wall is atrophic, there are spermatogonia, but no sperm formation. Interstitial cell hyperplasia is poor, and is sparsely distributed around the seminiferous tubules.

　　2. Incomplete testicular feminization endocrine examination: The androgen level of adolescent patients is similar to that of normal males, mainly due to low dihydrotestosterone level, with an increased ratio between the two, and a decreased conversion rate of testosterone to dihydrotestosterone. Plasma luteinizing hormone (LH) slightly increases. Urinary 17-hydroxycorticosteroids (17-HS) and 17-ketocorticosteroids (17-KS) are normal.

　　Postoperative dietary formula for pseudohermaphroditism:

　　1. How to make braised turtle: 750 grams of turtle, 100 grams of ham, 13 grams of starch (from broad beans), 25 grams of fresh mushrooms. Ingredients: 15 grams of yellow wine, 60 grams of scallion, 1 gram of monosodium glutamate, 100 grams of garlic, 3 grams of salt, 100 grams of refined lard, 25 grams of vinegar, 1 gram of white pepper. Kill the live turtle, remove the internal organs, blanch, remove the black membrane, cut into pieces, rinse with water and set aside. Clean and cut ginger into pieces, peel the garlic, and crush into garlic paste. Cut bamboo shoots into slices. Cut ham into slices. Place the turtle pieces in a pot, add scallion whites, ginger pieces (smashed), cooking wine, bamboo shoot slices, and ham slices, add enough water to cover the turtle, bring to a boil over high heat, then simmer over low heat for 2 hours, remove the ginger and scallion, add refined salt and monosodium glutamate for seasoning, and sprinkle with garlic paste before serving.

　　2. Silver ear pigeon soup: 500 grams of squab, 10 grams of dried silver ear, 25 grams of scallion, 4 grams of ginger, 8 grams of salt, 10 grams of yellow wine. Clean and drain the squab, cut off the head and claws; soak the silver ear in hot water, change the hot water every 10 minutes, do this three times, cut off the base and yellow spots, wash and drain, and scatter into small pieces; place the pot on the stove, pour in chicken broth, add the squab and ginger slices, bring to a boil, add cooking wine, simmer over low heat for about 1 hour; add the well-soaked silver ear, and continue to simmer until the soup is thick and the meat is tender; take out the squab, remove the bones, and tear the pigeon meat into long strips; put it back into the pot, bring to a boil, sprinkle with chopped scallion, and season to taste.

　　3. Yam Stewed Pork Ribs: 250 grams of yam, 150 grams of pork ribs (large ribs), 5 grams of scallion, 3 grams of salt, 2 grams of vinegar, 2 grams of star anise. Peel and clean the yam, cut into blocks; cut the pork ribs into pieces; put the yam and pork ribs in the inner pot of the pressure cooker, add scallion, ginger, refined salt, vinegar, star anise, and enough water, adjust the pressure to the pork rib setting, and keep pressure for 10 minutes, then it can be eaten.

　　4. Tangerine Peel and Black Bone Chicken Soup: 400 grams of black bone chicken. 10 grams of tangerine peel, 15 grams of Baizhu, 15 grams of Fuling, 5 grams of Zǐhèi, 15 grams of Yam, 10 grams of ginger, 3 grams of salt. Clean the black bone chicken; peel and clean the yam, cut into irregular blocks; peel and clean the ginger, slice it; put water in the pot, bring to a boil over high heat, add the black bone chicken, skim the foam after boiling; add tangerine peel, Baizhu, Fuling, yam, ginger slices, and refined salt, switch to medium heat, cook for about 60 minutes; when the black bone chicken is tender, pour the soup out, add Zǐhèi powder, mix well, and drink.

　　5. Danggui and Astragalus Stewed Old Chicken: 600 grams of hen, 20 grams of Danggui, 20 grams of Astragalus, 10 grams of dried jujube, 4 grams of salt, 1 gram of monosodium glutamate. Cut the old hen into pieces and rinse with water to clean the blood stains; wash Danggui, Astragalus, and dried jujube with water; bring water to a boil in the pot, blanch the cleaned chicken pieces; put the blanched chicken pieces, Danggui, Astragalus, and dried jujube into a stewing basin, add water, place on the fire, bring to a boil, skim the foam on the surface; cover the lid, turn to low heat, and continue to stew for about 3 hours; when the chicken pieces are tender, add salt and monosodium glutamate to adjust the taste and it is ready.

　　6. Stir-fried Duck Blood: 2,000 grams of duck, 1 gram of black pepper, 6 grams of ginger, 4 grams of salt, 5 grams of chili (red, pointed, dried), 3 grams of monosodium glutamate, 15 grams of green scallion, 25 grams of garlic (with white skin), 30 grams of peanut oil, 10 grams of sesame oil, 35 grams of cooking wine, 4 grams of soy sauce. Take a clean bowl, first pour in 15 grams of cooking wine, cut a knife across the neck of the duck to let the duck blood flow into the bowl, mix with chopsticks; then immerse the duck in boiling water for a moment, then pluck the feathers, cut open the abdomen, remove the internal organs, cut into 1.8 cm square pieces, and put them in another bowl for later use (the head, feet, wings, and internal organs are not used); wash the ginger clean, cut into 1.2 cm square thin slices; remove the roots of the scallion, wash it clean, and cut the white part into 1.2 cm long segments; cut the dried red chili diagonally into 0.9 cm long strips; halve the garlic cloves and put them all in a clean bowl; heat the wok over high heat, add peanut oil, and when it is about 70 degrees hot, add the chopped ginger, scallion, garlic, and dried red chili, stir-fry until fragrant; then add the duck pieces and stir-fry together; when the duck pieces shrink and turn white, add 20 grams of cooking wine, soy sauce, and refined salt, and stir-fry again; then add 200 milliliters of fresh broth, move the wok to a low heat, and simmer for 10 minutes; when the soup is about 1/10 remaining, pour the duck blood over the duck pieces, stir while pouring, so that the duck pieces are covered with duck blood, pour after finishing, add black pepper, monosodium glutamate, and stir slightly, then turn off the heat, pour into a plate, and pour sesame oil over it to finish.

　　7. Ginseng Stomach: 100 grams of glutinous rice, 500 grams of stomach, 10 grams of ginseng, 15 grams of poria cocos, 10 grams of sweet almond, 12 grams of dried jujube, 5 grams of tangerine peel, 30 grams of butter, 5 grams of Sichuan pepper, 3 grams of ginger, 15 grams of garlic (white skin), 10 grams of scallion, 2 grams of salt, 1 gram of monosodium glutamate, 5 grams of yellow wine, 1 gram of white pepper. Wash the ginseng clean, place it on a strong fire and stew for 30 minutes, slice and keep the soup. Clean the stomach on both sides, scrape off the white membrane, and blanch it with boiling water. Soak the almonds in boiling water and then rub off the skin with cold water, dry them. Wash the jujube clean and remove the seeds; clean the poria cocos; clean the tangerine peel and break it in half; pound the ginger and garlic; cut the scallion into sections; clean the glutinous rice. Put the ginseng, poria cocos, almonds, jujube, tangerine peel, and glutinous rice, Sichuan pepper, and white pepper into a cheesecloth bag, tie it up, and put it in the stomach. Place the stomach in a large plate, add an appropriate amount of butter, wine, salt, ginger, scallion, garlic, and steam for 2 hours over high heat until the stomach is tender. Remove and let it cool slightly, then remove the glutinous rice medicine rice for later use; remove the ginseng, almonds, and dried jujube for later use; the rest is not used. Put the dried jujube in a small bowl, cut the stomach into thin slices and place them on top, and place the ginseng on top of the stomach. Pour the original soup in the plate and the ginseng soup into the pot, bring to a boil, and adjust the monosodium glutamate.

　　It is often necessary to perform surgical establishment of the appropriate gender. The basis for choosing to establish male or female should be based on anatomical possibilities based on etiological diagnosis, so that the child can naturally or under hormone replacement therapy achieve the maturity of sexual characteristics, without necessarily considering the karyotype of the cells. In addition, psychological gender tendencies should also be considered. Children over 2 years of age have obvious psychological gender, which is due to the influence of fetal testosterone and the gradual formation under the action of the central nervous system after birth. Psychological gender should be considered when choosing gender. For example, in children with testicular feminization, since peripheral tissues do not respond to testosterone, although the secretion of testosterone by the testicles is normal, women should also be chosen when establishing gender.

　　Appropriate surgery should be performed after choosing the established gender. In cases of feminization in males, the clitoris should be removed, and the surgery should be done as early as possible, and the hypospadias should be repaired before the child starts school. Boys with undescended testicles should undergo surgery around the age of 5. In cases of feminization in males, the testicles should be removed