Description of hermaphroditism, pseudohermaphroditism
Development of sex organs is a very complex storyline. Polavních development of internal glands – ovaries and testes begins around the sixth week of pregnancy. Fundamentals gonads forms of genital rail. For the development of the testis is so important. Testis-determining factor. Gene it is stored on chromosome Y. It follows that this chromosome is essential for the development of the testis. Development efferent genital tract, female oviducts, uterus, vagina, male epididymis, vas deferens, prostate and seminal vesicles depends on formation mesonefrických (Wolf) and paramesonefrických (Müllerian) ducts. Female genital tract arise from the Müllerian ducts, male from Wolffových. Wolff outlets are also important for the development of the urinary tract in both sexes.
Fundamentals of external genital organs arise from departments around the cloacal membrane and genital tubercle, which is located in front of her. After the disintegration of the genital membranes opens the mouth of the urogenital sinus. Of the genital tubercle develops Phallus and externally since it creates labioskrotální mounds. If these structures between the 9th and 14th week of pregnancy exposed to the influence of testosterone, develops in the male genital type. If not, there will be female genitalia. From the fetal Phalle created clit (clitoris) from the ramparts labioskrotálních big lips (labia majora).
True hermaphroditism is a rare condition where the individual has an androgynous genitalia. It has involved both ovaries and testes. On the outside may be of almost normal female to male almost normal appearance with a wide range of intermediate steps. When deciding on sex should be approached purely individually and in agreement with the parents to proceed to therapeutic action.As a rule, it is better for a better job and simpler therapy adhere to the sex feminine.
Pseudohermaphroditism divided into female and male.
Pseudohermaphroditism femininus – female type
Female pseudohermaphroditism is most often caused adrenogenital syndrome, formerly known as congenital adrenal hyperplasia (CAH). It is a disease of the adrenal enzyme defect caused in the formation of cortisol, a stress hormone important. Sometimes it can also occur to a lack of aldosterone, a hormone that is responsible for the management of minerals and water. The most commonly applied disorder of the enzyme 21 hydroxylase. Through this enzymatic block instead of forming cortisol androgens are precursors thereof. Androgens are in excess, and if this is done for intrauterine life, there is a masculinization (pomužštění) external genitalia. Depending on which enzyme is not formed, there are three basic forms of CAH. Classical form with salt disorder, non-classic and simple virilizing form.
Preventing type female pseudohermaphroditism
Currently, all newborns so withdrawn. Screening congenital defects, except where congenital hypothyroidism, phenylketonuria, cystic fibrosis, and nine other metabolic disorders is a test for congenital adrenal hyperplasia. He takes a few drops of blood from a newborn footer between 48 and 72 hours after birth.
The symptoms of female pattern pseudohermaphroditism
The main symptom in simple virilizing form after birth when the diagnosis did not come intrauterine (in uterus) thus pregnancy, masculinization external genitalia. According Pradera distinguishes five types. Most often it’s a type three, which is called hypertrophic, or if peniformní clitoris. We can imagine it as a transition between the penis and the clitoris. The urethra is normal vagina is narrowed.
For CAH with salt disorder in addition to virilization of external genitalia due to insufficient production of aldosterone showing signs of disruption of the internal environment. It is to thrive, weakness, low blood pressure, apnea, seizures, vomiting, diarrhea, dehydration, fever, coma, cerebral edema. Rarely in the unrecognized disease can lead to sudden death of a newborn or infant.
Non-classical form (ie. Late onset) can occur in adolescence or early adulthood as menstrual cycle disorders, hirsutism (increased hair growth), severe acne, hyperandrogenism syndrome, infertility.
Treatment of female pattern pseudohermaphroditism
In the early diagnosis to the mother during pregnancy administered corticosteroids, which act so. Negative feedback. This means that inhibits dispensing hormone, which would increase the production of androgens. This averts masculinization of the external genitalia, the child is developing normally. If it does not come in time, you must make a correction after the birth of the external genitalia. The main thing is to get rid of the girl salience. After birth, the child must treat again the substitution of steroids, otherwise the heterosexual precocious puberty, a male type.Furthermore, in adulthood, psychosocial maturity period for the initiation of sexual intercourse must expand the vaginal opening and plastic modify vagina. With good hormone treatment, patients normally reach, and menstruating can conceive. However, it must cover all of the adrenal hormones.
Pseudohermaphroditism masculinus – masculine type
The most common cause of this type of pseudohermaphroditism is testicular feminization syndrome. It receptor disorder where androgen receptors are not sensitive to them, they do not respond to these receptors or entirely absent. Has affected male karyotype, 46 XY. It has testes, which fulfills its function normally roughly, but because of the peripheral tissue will not respond to them produced androgens, can be masculinisation external genitalia. Thus, an individual is born with a completely normal by external genitalia. But the testes produce so. MIF (Mülllerianský inhibitory factor), which prohibits the development of female internal reproductive organs – uterus, fallopian tubes, ovaries. Internal sexual characteristics are thus male and female external. The testicles are undescended and are stored either in the pelvis, in the inguinal canal or in the large lips. The testicles are called. Dysgenetická (not properly developed, are inactive) and threatens their overthrow in the tumor. They are a source of estrogen, which in puberty causes the typical appearance with large breasts and a female character.
Symptoms of type male pseudohermaphroditism
Patients affected by testicular feminization syndrome look like women, like women think and feel to be women. But they lack the hair both in landscape external genitals and armpits. The doctors will usually come because even fifteen years they missed periods. Some women even up to the impossibility of sexual intercourse. Sometimes the testicles can identify with inguinal hernia in girls. Each inguinal hernia in girls is suspected from this syndrome, since otherwise an inguinal hernia in girls rarity. And in each such case should be investigated karyotype (chromosomal analysis). Patients with this type of pseudohermaphroditism unfortunately due to the absence of genitals would never have children of their own.
Treatment of male pattern pseudohermaphroditism
Dysgenetická testes should be removed. First, they are useless because they are dysfunctional.Great is the risk of degeneration into a malignant tumor. The surgical approach is usually laparoscopic.
In both cases, hermaphroditism is important psychosocial support for patients and families.
Other names: pseudohermaphroditism
