Diseases associated with disorders of sexual differentiation
Endocrinology / / August 12, 2017
dysgenesis seminiferous tubules - a disease caused by a chromosomal abnormality, the main manifestation of which is the disruption of spermatogenesis.
Fig.1: Patient 19 years.
pathogenesis. The disease is chromosomal abnormality - usually, XXY, but in some cases described patients with karyotype XY / XXY, XXYY, XXXY, etc .. Due to the presence in the karyotype is normal Y -hromosomy gonad differentiates into an egg, and it is in the embryonic periodnormally releases hormones and androgens.Therefore, the sexual organs are formed as a normal male.However, the presence of excess (or unnecessary) X chromosomes causes damage to the testicles, which microscopically becomes noticeable during adolescence - elastic membrane of the seminiferous tubules is poorly
As with other chromosomal abnormalities, an excess of genetic material (extra chromosomes) results in many cases, mental retardation.
For every 10 000 live births of boys for 21 patient dysgenesis seminiferous tubules;among mentally retarded men most Frequency - 81 10 000, and among those with azoospermia or oligozoospermia pronounced rate of persons with sexually chromatin reaches 20%.Family cases are extremely rare.The average age of mothers who gave birth to sons with dysgenesis of the seminiferous tubules, slightly higher than the age of mothers who gave birth to a healthy son, but this relationship is not so clearly expressed as in the birth of children with other trisomies (eg, mongolism).
Clinic. Complaints of patients may be different.A common complaint is infertility, having a cause azoospermia.Many patients, in addition, there are complaints of low potency, lack of secondary body hair, gynecomastia.
Build patients often eunuchoid (tall, long limbs), facial hair is absent or insignificant, vegetation on the pubic hair is insignificant and is bounded from above by a horizontal line as in women (see Fig. 1).
penis often normal size, the testicles are in the scrotum, but small and dense.Very often gynecomastia with a lot of glandular tissue.It should be noted that a number of patients with no symptoms of the above (except azoospermia) is not detected during the inspection.Often, patients have mental retardation, which is dependent on the karyotype: XXY karyotype when intelligence is reduced to 25% of patients, while the karyotype XXXXY- 67%.Furthermore, when the karyotype XXXXY, unlike patients with more conventional karyotype XXY, is often cryptorchidism.
The vast majority of patients have sexual chromatin-one with the karyotype XXY, with two karyotype XXXY, three at the karyotype XXXXY.In some cases, such as chromosomal mosaic, sex chromatin is absent, and the diagnosis can be refined definition karyotype.
Hormonal studies, most patients show normal release of 17-keto steroids with decreased testosterone isolation, high isolation gonadotropins.17-keto steroids to a large extent have adrenal origin, as evidenced by their reduction while taking dexamethasone.
- Congenital disorders of sexual differentiation.Normal sexual differentiation
- male gonads.Embryology, anatomy and physiology
- diagnosis and treatment of climacteric neurosis
- menstrual cycle
- gonadal dysgenesis (Shereshevskii syndrome - Turner)
- The use of estrogen for the treatment of climacteric neurosis
- The use of androgens in the treatment of climacteric neurosis
- Early puberty
- Climax(menopause) in men
- principles of hormone therapy violations
- menstrual Principles of hormonal treatment of dysfunctional uterine bleeding
- Prevention of recurrence of dysfunctional uterine bleeding
- Climacteric neurosis in men
- Tumors Leydigovyh cells hilyusa ovarian
diagnosis and differential diagnosis conducted on the basis of the clinical picture, the presence of sex chromatin.Testicular biopsy shows characteristic changes, but very similar picture is in other diseases of the testicles, accompanied by their atrophy.So far not been finally resolved the question of the legality of the seminiferous tubules dysgenesis diagnosis in individuals with characteristic changes in the testes and the absence of detectable chromosomal abnormalities.Such cases, however, there are far less than the typical.
Treatment of patients with completely futile against infertility.To enhance hair growth on the face and increase potency can apply testosterone (50 mg per week).A number of patients such treatment leads to a significant increase in potency.As for the growth of hair on the face, it is poorly amenable to influence, and even large doses of testosterone that are sufficient for virilization in women who do not cause noticeable hair growth in these patients (this indicates a reaction of a number of disorders of the peripheral tissues to the hormones).Gynecomastia is subject to surgical treatment.