Қынаптың қалыптан тыс жабылуы немесе жоқтығы

Abnormal closure or absence of the vagina
Vaginal atresia is a condition in which the vagina is abnormally closed or absent. The main causes can either be complete vaginal hypoplasia, or a vaginal obstruction, often caused by an imperforate hymen or, less commonly, a transverse vaginal septum. The disorders that are usually coupled with a female who has vaginal atresia are Mayer Rokitansky Küster Hauser syndrome, Bardet Biedl syndrome, or Fraser syndrome.

Symptoms and signs in the newborn can be sepsis, abdominal mass, and respiratory distress. Other abdominopelvic or perineal congenital anomalies frequently prompt radiographic evaluation in the newborn, resulting in a diagnosis of coincident vaginal atresia.

The cause for vaginal atresia is unknown. Typically, the creation of the vaginal canal is completed within the fetus by the 20th week of gestation. Researchers believe in patients with vaginal atresia, tubes known as the Müllerian ducts do not develop correctly within the first 20 weeks of gestation/pregnancy. Typically, one of these ducts develops in the fallopian tubes while the other ducts develop into the vagina and uterus. Kidney anomalies often accompany this disorder as well. the Müllerian duct is either absent or deformed when this gene is not present. The development of the female reproductive system may be disrupted in the absence of the WNT4 protein's regulation. Abnormal androgen production is also induced, eventually leading to hyperandrogenism and Müllerian aplasia. Some of the common characteristics associated with this syndrome include intellectual disorders, loss of vision, kidney problems, and obesity. The mechanism that causes BBS is still remains unclear. Mutations in more than 20 genes can cause BBS and is an inherited recessive condition. Some of the gene mutations that occur in BBS are listed below:

BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12, MKS1 (BBS13), CEP290 (BBS14), WDPCP (BBS15), SDCCAG8 (BBS16), LZTFL1 (BBS17), BBIP1 (BBS18), IFT27 (BBS19), IFT72 (BBS20), and C8ORF37(BBS21) The majority of the genes that are related to BBS encode proteins which are called cilia and basal bodies, which are related structures.

The exact mechanism for vaginal atresia is not well known, as specific molecular mechanisms which lead to the closing or absence of the vagina are unclear. There are various pathways that may support or restrict regular vaginal development. Research has shown that changing factors may also include paracrine and autocrine signals and changes in the basis of developing organs. Specific patterns of genetic transmission have not been identified for this condition. The description of vaginal atresia mechanism can be explained in several steps of development of the uterovaginal canal per the information provided by these medical professionals. These interdependent systems are external genitalia, gonadal structures, and internal ductal system. The absence of androgens, Müllerian inhibiting substance (MIS), and testes causes the continuous differentiation of the Müllerian ducts with reversion of the Wolffian ducts in the female embryo. The Müllerian duct will then elongate to reach the urogenital sinus within 9 weeks of gestation; this forms the uterovaginal canal. Corrective surgery of malformation related to the disorder may be an option for treatment. Genetic counseling can also be beneficial to families with this disorder.