Endocrinology / / May 18, 2016
Diseases associated with impaired sexual differentiation
false female hermaphroditism
In most cases the disease is caused by congenital adrenal hyperplasia, sometimes - taking the mother during the first trimester of androgens, estrogens or progestins, or the presence of arrhenoblastoma mother.In some cases, the cause of the disease remains unknown.
false male hermaphroditism
False male hermaphroditism is caused by a group of diseases characterized by the presence in the body of the two testes, a violation of fetal testicular function and impaired formation of the external genitalia.
pathogenesis. The vast majority of patients have normal karyotype XY for males.For some patients described karyotype XO, XO / XY, XY et al., But usually these patients had significant clinical features that allow them to refer to other nosological group.For example, some patients with karyotype XO / XY had only one testicle disgenetichnoe that would justify their assignment to a group of patients with gonadal dysge
pseudohermaphroditism in male testicles are usually defective in embryonic development of hormones, so in patients with varying degrees of impaired development and involution of Müllerian ducts volfovyh.Violation of steroidogenesis in the testis leads the fetus in incomplete masculinization of the external genitalia, and at puberty to a lack of masculinization.If the testicles, along with androgens, during this period, and generate significant amounts of estrogen may develop feminization.
Besides hormonal factors influencing the clinical picture is very significant, apparently, is a violation of tissue reaction to the hormones - so, many patients can not cause masculinization of even very large doses of androgens.
described a number of families who have had several children of male pseudohermaphroditism, but it is difficult to assess the likelihood of this.Much better studied inheritance of testicular feminization.It is shown that usually the family is affected half of the sons of the disease.Apparently, the disease is transmitted or associated with the recessive gene sex or appear only in males autosomal dominant gene.Men do not transmit diseases, and healthy women carriers transmit his sons half.If a family has a sick testicular feminization, the great risk of having another son with the same pathology.Daughters in such families are born normal.
Clinic extremely diverse, and between the individual forms of conduct can not be a strict face.
extreme option is to testicular feminization syndrome.In these patients, due to violations of fetal testicular function generally do not develop any Wolffian or Mullerian derivatives, there is no masculinization of the external genitalia, so that at the birth of all such patients are considered to be girls.At puberty the testicles usually produce significant amounts of estrogen, which leads to the feminization of the patients, but because of the absence of menstruation the uterus does not show up, so patients treated with complaints of amenorrhea and infertility.Furthermore, if an increase testicular leads to compression of the channels in the inguinal or their outputs, anxious patients groin pain.
On examination, patients found a good development of the mammary glands in the absence of a secondary characteristic of the women body hair, often found in the testicles thicker labia majora or in the inguinal canal, is often inguinal hernia.Small hypoplastic labia, vagina and short blind, no uterus, tubes, often absent and the epididymis and vas deferens (see. Fig. 1).
Fig.1: The patient was 40 years old.
Fig.2: The patient was 15 years old.
testicular biopsy they found atrophy of spermatogenic elements with good development of Sertoli epithelium and usually with good development leydigovskih cells.
In other embodiments, the testes syndrome produce slightly more androgens, so patients develop hypertrophy of the clitoris, and there is little hairiness of the upper lip;the development of the mammary glands occurs.At even greater formation of androgens in patients may be sudden hypertrophy of the clitoris, the size of the corresponding penis with hypospadias, but there is a short blind vagina;breasts do not develop;in adolescence appears a pronounced body hair of male type (See. Fig. 2).
Almost always, patients have a vagina, but sometimes it is not;often found rudimentary uterus.As a rule, there cryptorchidism, scrotal hypoplasia.On the one hand, could be the epididymis, vas deferens, the other - the uterus and tube.Describe patients who have an almost normal male external genitals (only with mild hypospadias), and even with normal spermatogenesis were also preserved the uterus and tubes.Such cases are usually diagnosed incidentally during laparotomy or uterine prolapse in the hernia sac.Many patients eunuchoid physique uncommon gynaecomastia and obesity.In almost all cases, there are testicles, histological structure of spermatogenic elements narushena- dramatically underdeveloped, replaced by connective tissue, with a rare form of testicular disorders can not be found (anorhidiya).In these patients, there is a blind ending epididymis, which indicates the presence of eggs in the embryonic period.Apparently, in these patients there was a sharp deterioration egg after it has shown its morphogenetic action.Therefore patients penis is very small, sharply underdeveloped or no scrotum, it can not detect the testes.The vagina is absent.
Since the vast majority of patients have XY karyotype, they do not have sex chromatin, which is an important feature.Hormonal studies usually show normal for boys allocation of androgens and estrogens, but high gonadotropin release.The reason for this phenomenon is unclear, perhaps it is to change the sensitivity of tissues (including hypothalamic centers) to sex hormones.
Diagnosis and differential diagnosis based on the detection disgeneticheskih testicles in a genetic male, who is absent or inadequate masculinization of the external genitalia and there is a short blind vagina.The most simple diagnosis of testicular feminization in its typical form, supported by the absence of sex chromatin.Much more difficult to diagnosis of cases that occur with severe virilization.From female patients with congenital adrenal hyperplasia such patients distinguishes normal excretion in urine 17-keto steroids and the absence of sex chromatin, as well as the uterus.In many cases (such as when anorhidii) an accurate diagnosis can be established only at laparotomy.Laparotomy is also the only opportunity to distinguish patients with male pseudohermaphroditism with chromosomal abnormalities (which happens very rarely) from patients with atypical forms of gonadal dysgenesis.In general, it is impossible to make a clear distinction between male pseudohermaphroditism and sharp hypogonadism.In favor of the first said detection in step two of the testicles and of the anatomical structures that reveal a violation of testicular function is still in the embryonic period.
- Congenital disorders of sexual differentiation.Normal sexual differentiation
- male gonads.Embryology, anatomy and physiology
- gonadal dysgenesis (Shereshevskii syndrome - Turner)
- dysgenesis seminiferous tubules (Klinefelter
- syndrome Early puberty
- Tumors Leydigovyh cells hilyusa ovarian
Treatment defined clinical syndrome in.patients with the typical form of testicular feminization very important and controversial is the question of whether the removal of the gonads. According to the cumulative ectopic testes at this syndrome in persons over 30 years maligniziruyutsya in 22% of cases. in connection with this risk are currently covered by the opinion of the appropriateness gonadectomy insuch patients over the age of 20 years, followed by his appointment of estrogen to maintain feminization. Many patients given syndrome are sexually active women, so the appointment of estrogen shown to maintain the normal condition of the vaginal mucosa.If the vagina is very small, patients performed vaginoplasty.Gonadectomy definitely shown in the two cases.It is inevitable in operations of inguinal hernias in these patients, or at the location of the gonads in the inguinal canal, which hinders the patient walking, cycling and others. In addition, gonadectomy shown in patients who have virilization begins at puberty.Simultaneously performed resection of the clitoris.For 1.5-2 weeks after gonadectomy patients appear phenomenon postcastration syndrome, and it shows the assignment of estrogen, which quickly eliminate these phenomena, and lead in the coming months to a pronounced feminization.
Patients with other forms of male pseudohermaphroditism with male sex passport and external genitalia, approaching the male, testosterone treatment is indicated.However, a significant number of these patients the treatment is completely ineffective and does not lead to a significant development of hypoplastic genitalia, nor the appearance of any express hair distribution on the face.Typically, the treatment effect is smaller, the more pronounced anatomical abnormalities.