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Male pseudohermaphroditism

  Pseudohermaphroditism is the heterogeneity of genetic sex, gonadal sex, and phenotypic sex, that is, the gonadal sex is consistent with the genetic sex, but the development of the reproductive ducts and urogenital sinus has the components of the opposite sex or characteristics of both sexes. Based on genetic sex and gonadal sex, pseudohermaphroditism can be further divided into female pseudohermaphroditism and male pseudohermaphroditism.

  The basic characteristics of male pseudohermaphroditism are karyotype 46,XY. If the gonads can be found, they are definitely testes, but the male external genitalia are not fully masculinized, ambiguous, or completely feminized. Since the normal masculinization process during fetal development is very complex, male pseudohermaphroditism has many types.

Table of Contents

1. What are the causes of male pseudohermaphroditism
2. What complications are likely to be caused by male pseudohermaphroditism
3. What are the typical symptoms of male pseudohermaphroditism
4. How to prevent male pseudohermaphroditism
5. What kind of laboratory tests are needed for male pseudohermaphroditism
6. Dietary taboos for patients with male pseudohermaphroditism
7. Conventional methods of Western medicine for the treatment of male pseudohermaphroditism

1. What are the causes of male pseudohermaphroditism

  First, etiology

  The main reasons for male pseudohermaphroditism are: first, incomplete androgen action, where testosterone synthesis is normal, but the action of androgens appears abnormal. Second, defects in the synthesis of testicular hormones, when stromal cell differentiation is impaired or enzymes have hereditary defects, it can lead to incomplete differentiation of the male reproductive tract and external genitalia of the 46,XY fetus, thus resulting in male pseudohermaphroditism. Third, structural abnormalities or gene mutations of the Y chromosome, or other chromosomal abnormalities leading to incomplete gonadal development.

  Second, pathogenesis

  The pathogenesis of male pseudohermaphroditism is related to defects in the following androgen action links: decreased androgen production, such as 3β-HSD, 17β-HSD, and 5α-reductase defects; AR gene mutation, causing a decrease in AR number and dysfunction; 5α-reductase defect, unable to convert testosterone to dihydrotestosterone (DHT); abnormal androgen metabolism in target cells, etc., among which AR mutation is the main cause of complete and incomplete testicular feminization.

  The human androgen receptor (AR) gene is located at Xq11-12, and more than 200 AR gene mutations have been found, of which gene single-base mutations account for more than 90%. AR gene mutations cause a decrease in AR binding affinity and DNA structure abnormalities, including complete gene deletion, deletion of exons encoding the androgen binding site or DNA binding site, and point mutations, etc.

  1. Complete Testicular Feminization:The chromosomal sex of patients with testicular feminization is 46,XY, and it often presents as a familial disease, with family analysis indicating X-linked recessive disease. A mutation occurs in the androgen receptor gene near the centromere on the long arm of the X chromosome, resulting in a lack of specific proteins that bind to androgens in target cells. Although there is biologically active androgen, it does not bind to it and loses its reactivity. The hypothalamus is also insensitive to androgen and loses the negative feedback mechanism, leading to the pituitary gland secreting a large amount of gonadotropin to stimulate the proliferation of stromal cells. It has now been confirmed that the androgen receptor gene is located at Xq11-12, with a length greater than 90kb, having 8 exons, where exon 1 occupies the entire amino terminal and has the function of initiating transcription. Most patients with testicular feminization are gene point mutations or base pair deletions, leading to defects in the androgen receptor. This causes the male external genitalia to be blocked in transformation and to differentiate into the female phenotype, resulting in the onset of the disease.

  Such patients are insensitive to testosterone due to the lack of androgen receptors in the target tissue, and it is the most common type among male pseudohermaphroditism, with an incidence of about 1:120,000 in newborns. There is a family history of the disease. The testes look like predevelopment cryptorchidism under the microscope, the seminiferous tubules become thin, filled with Sertoli cells and immature spermatogenic cells, spermatogenesis is impaired, but stromal cells still proliferate, and this kind of testis is prone to malignancy.

  2. Incomplete testicular feminization:Also known as 5α-reductase deficiency, genetic research has confirmed that the karyotype of patients is 46,XY. The parents have normal phenotypes, and the incidence increases with consanguineous marriage. Family analysis can usually be traced back to a common ancestor with the disease. Both sexes exhibit abnormal enzyme defects, and both sexes have carriers of normal genes, supporting autosomal recessive inheritance.

  It is known that in the target tissues sensitive to androgens, testosterone is converted into dihydrotestosterone by the action of 5α-reductase and exerts its effect; testosterone and dihydrotestosterone are indispensable in the process of male differentiation of the internal reproductive organs. If the male fetus lacks 5α-reductase in the early stage of development, there will be a lack of dihydrotestosterone in the target tissue, leading to abnormal development of the external genitalia, often presenting as female or indistinguishable between male and female.

  Based on the results of 5α-reductase activity measurement, the disease can be divided into two types: enzyme deficiency and enzyme instability. Gene analysis results show that the cause of enzyme activity deficiency is due to mutations and deletions in the gene, or the inability of the enzyme to bind to testosterone, or the impact on the function of the enzyme; or mutations outside the gene encoding the enzyme affect the expression of the gene.

2. What complications are easily caused by male pseudohermaphroditism?

  1, Micropenis:Micropenis refers to the condition where the penis appears normal in appearance, with a normal length-to-diameter ratio, but the length of the penile body is less than the average length of the normal penis by more than 2.5 standard deviations. The length of the penis refers to the distance from the tip of the penis to the symphysis pubis when the penis is pulled as straight as possible 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 penis with a relaxed length of less than 3 cm is considered to be micropenis.

  2, Hypospadias:The urethral opening is ectopic on the ventral side of the urethra, known as hypospadias. The opening of hypospadias can occur at any location between the perineum and the glans penis. The distal end of the urethral opening, the underdevelopment of the urethra and surrounding tissues, forms fibrous bands that pull the penis, causing it to bend towards the ventral side. Not all congenital penile curvature cases have hypospadias, but all cases of hypospadias have varying degrees of penile curvature.

  3, Cryptorchidism:Cryptorchidism refers to the condition where the testes of a male infant do not descend into the scrotum but remain at any point in the normal descent process. That is to say, there are no testes in the scrotum or only one side has a testis.

3. What are the typical symptoms of male pseudohermaphroditism?

  Complete gonadal dysgenesis

  Patients have completely normal female external genitalia, without clitoral hypertrophy, but the vagina is relatively shallow, presenting as a blind end without a cervix. There is no uterus or fallopian tubes in the abdominal cavity. There is primary amenorrhea. The position of the testes can be in the abdominal cavity, inguinal region, and great labia, with the inguinal region being the most common (78%). Both breasts develop and become large, but there is less glandular tissue, the nipples are underdeveloped, and the body shape is also feminine. Another characteristic of this disease is that patients do not have axillary hair or pubic hair (hairless woman).

  Incomplete gonadal dysgenesis

  Patients have the same characteristics as complete androgen insensitivity syndrome in terms of reproductive tract, gonads, plasma sex hormones and gonadotropins, karyotype, and genetic pattern, but the external genitalia have varying degrees of masculinization, accompanied by the growth of pubic and axillary hair. This is because the quantity or quality of androgen receptors in the target tissue is lower than the normal level rather than completely absent, resulting in varying degrees of masculinization.

  1, Lubs syndrome:Patients have partial development of the mesonephric duct, sexual hair, a male physique, posterior fusion, and external genitalia that tend to be female.

  2, Gilbert-Dreyfus syndrome:患者呈男性体型,阴茎较小,伴有尿道下裂,部分中肾管发育,乳房肥大,男性化程度为中间型。

  Patients have a male body type, small penis, accompanied by hypospadias, partial mesonephric duct development, breast enlargement, intermediate degree of masculinization.3, Reifenstein syndrome:

  Male external genitalia, short penis, varying degrees of hypospadias, bifurcated scrotum, breast enlargement during the developmental period, pubic hair, infertility.4, Rosewater syndrome:

  The male external genitalia and reproductive tract, during the developmental period, breast enlargement, fat distribution is female, with pubic hair, infertility.5, perineal scrotal hypospadias:

Due to the defect of 5-α reductase, testosterone cannot be converted to 5-α-dihydrotestosterone. As a result, the penis resembles a clitoris, the urethral opening is in the perineum, there is a shallow vagina, the mesonephric ducts differentiate like normal males, that is, there are seminal vesicles, vas deferens, epididymis, and the opening of the seminal duct in the genital sinus. The testes are in the inguinal canal or the bifurcated scrotum. In adult patients, seminal fluid may contain mature sperm and various types of sperm cells. In patients during the developmental period, male secondary sexual characteristics appear: well-developed muscles, deep voice, undeveloped breasts, increased penis size, ability to achieve erection and ejaculation. Hormone tests show that the blood testosterone level is the same as that of normal males, while the 5-α-dihydrotestosterone level is reduced. In patients, 5-α-dihydrotestosterone cannot be detected in almost all tissues such as foreskin and corpus cavernosum of the penis, indicating that 5-α reductase is lacking in these tissues, causing the urogenital sinus and the external genitalia cannot fully develop in the male direction. According to the analysis of the patient's family tree, the genetic pattern of this patient may be autosomal recessive inheritance.. 4

  How should male pseudohermaphroditism be prevented?

The etiology of this disease is unclear. Early detection, early diagnosis, and early treatment are of great significance for the prevention of this disease. Regular checks should be conducted during pregnancy. If a child shows a tendency of abnormal development, chromosomal screening should be done in a timely manner. After clarification, artificial abortion should be performed promptly to avoid the birth of a child with the disease. It is required to determine the gender of children with hermaphroditism before the age of 2, as children over 2 years old have already obtained corresponding psychological development in terms of gender. Changing their gender may cause possible psychological abnormalities in the future. Therefore, the gender of children with hermaphroditism over 2 years old should be determined based on the morphology of the external genitalia and social gender. And according to the determined gender, choose the corresponding plastic surgery, and give appropriate sex hormone treatment when necessary to promote the development of secondary sexual characteristics that correspond to the gender.. 5

  1. Complete Testicular Feminization:What kind of laboratory tests are needed for male pseudohermaphroditism?

  2. Incomplete Testicular Feminization:The determination of reproductive hormones shows that serum FSH and LH levels are normal or slightly elevated, the testosterone concentration is equivalent to that of adult males, and the estradiol concentration is higher than that of adult males. The biopsy of the testes shows that the testicular volume is small, the tunica albuginea is smooth, the vas deferens, epididymis, and seminiferous tubules are underdeveloped, the tubular walls are degenerated, there are spermatogonia, but no sperm formation, and the stromal cells are poorly developed and sparsely distributed around the seminiferous tubules.

The androgen level in patients with endocrine examination during puberty is similar to that of normal males, mainly characterized by low dihydrotestosterone levels, an increased ratio between the two, and a decreased conversion rate of testosterone to dihydrotestosterone. Plasma luteinizing hormone (LH) levels are slightly elevated, and 17-hydroxycorticosterone (17-HS) and 17-ketocorticosterone (17-KS) in urine are normal.. Dietary taboos for male pseudohermaphroditism patients

  No special contraindications, eat light and nutritious food, pay attention to dietary balance. Avoid spicy and stimulating foods. In order to avoid recurrence of the disease, such as seafood, chicken, dog meat, etc. At the same time, do not ban spicy foods. Eat more fresh vegetables and fruits. Fresh vegetables and fruits contain a large number of nutrients needed by the human body. Eat more immune-boosting foods to enhance the body's ability to resist diseases.

7. Conventional Methods of Western Medicine for the Treatment of Male Pseudohermaphroditism

  1. Complete Testicular Feminization:Because the patient's external genitalia are perfect females and are raised as females, the treatment principle still maintains female gender. The controversy in treatment is when to remove both testicles, because the patient's testicles are prone to malignancy, but such testicles can cause the formation of female secondary sexual characteristics during development. Currently, it is considered that malignancy of the testicles before the age of 20 is rare, and the malignancy rate gradually increases after the age of 20, and after the age of 30, the incidence of testicular malignancy can reach about 25%. Therefore, it is generally advocated to remove both testicles after development, which can make feminization more perfect and avoid the malignancy of the testicles. Since the patient often appears symptoms similar to menopausal period after the removal of the testicles, such as flushing, breast shrinkage, and atrophy of the vaginal epithelium, long-term estrogen replacement therapy should be given. For those with shallow or narrow vagina that hinders sexual intercourse, it should be extended or expanded at the appropriate time. It is not advisable to tell the patient that the reproductive glands are testicles, only that they cannot reproduce, in order to avoid mental trauma that is difficult to heal for the patient.

  2. Incomplete Testicular Feminization:The treatment of incomplete testicular feminization is more complex than that of the complete type, as there are significant changes in the external genitalia. For example, patients with Reifenstein syndrome and Rosewater syndrome have almost completely male external genitalia and are raised as males, and treatment is to correct hypospadias, remove the developed breast tissue, and supplement male hormones. Lubs syndrome, due to the tendency of the external genitalia to be female, is often raised as a female, and should be treated according to the principles of abnormal sex differentiation. For pseudo-vaginal perineal scrotal hypospadias, due to the obvious male secondary sexual characteristics in the developmental period, after clear diagnosis, it should be treated as male and given corresponding treatment.

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