Female Congenital Malformation

Terms in this set (38)

>rare conditions which affect the vagina and endometrium most often

>a congenital absence of the vagina is associated with anomalies of the uterus

>absence of a vagina may lead to an accumulation of menstrual blood within the uterus

>congenital absence of the uterus reflects failure of the mullerian ducts to develop

>associated with other anomalies of the urogenital tract

Congenital Vaginal Malformations

>septate vagina

>imperforate hymen

>vaginal adenosis

Septate Vagina

>failure of the embryonic mullerian duct to fuse properly and resulting median wall does not resorb

Imperforate Hymen

>An outflow tract abnormalities

>Female genital malformation occurs in 5% of the general population

Vaginal Adenosis

>due to diethylstilbestrol

Causes of outflow tract abnormalities

>embryologically, the lower 2/3 of the vagina develop from the urogenital sinus

>the upper vagina, cervix, uterus, fallopian tubes and ovaries form from the Mullerian Duct

>failure of vertical fusion or canalization of these 2 systems in utero results in these abnormalities

>the hymen originates from the embryonic vagina buds from the urogenital sinus

>it becomes perforated forming a central canal with communication between the upper vaginal tract and the vestibule of the vagina

Imperforate Hymen

>mot common

>Normally the central portion of the hymenal membrane is usually absent-creating the typical configuration of ring like structure at the level of the vaginal vestibule

>it may also remain undetected until puberty

Imperforate Hymen in the Neonate

>at birth, the presence of increased mucus secretion in the vagina secondary to maternal estrogen effect may result in a Mucocolpos appearing bulging hymenal membrane between labia

>the membrane may be white bc of the trapped mucoid material and may lead to UTI or bladder obstruction due to urethral compression

Imperforate Hymen in the adolescent

>adolescent usually present with primary amenorrhea (most common clinical presentation)

>other symptoms include lower abd or pelvic pain that may be cyclic, back pain, urinary retention, and constipation

>diagnosis made on examination when a distended bluish hymenal membrane is observed in the introitis - due to collected menstrual blood (hematocolpos)

Imperforate Hymen in Adolescent cont

>the trappe menstrual blood may back up into the uterus

>reflux of endometrial tissue and blood through the fallopian tubes may result in secondary endometriosis

>an accumulation of infected material within the vaginal cavity may cause ascending genital tract infection

Imperforate Hymen in the adolescent

...

Vaginal Adenosis due to DES

>occurs in daughter exposed in utero to DES
>refers to failure of the normal glandular epithelium that lines the embryonic vagina to be replaced by squamous epithelium during fetal development
>DES (morning after pill) a synthetic estrogen

Vagina Adenosis due to DES (cont)

> at 10 weeks of gestation, the upgrowth of squamous epithelium derived from the urogenital sinus replaces the glandular epithelium lining the vagina and exocervix

>DES exposure anywhere from the 10th to about the 18th week of gestation, arrests this transformation process and glandular tissue remains within the vagina

>manifest grossly as red granular patches on the vaginal mucosa

Vaginal Adenosis due to DES

>microspically-there is mucinous columnar cells, similar to the endocervix along with ciliated cells with eosinophilic cytoplasm- similar to the lining cells of the fallopian tube and endometrium
>the glandular cells ultimately undergo squamous metaplasia
>rare cases of clear cell adenocarcinoma of the vagina have also occurred in the daughters of women treated with DES

Clear Cell Adenocarcinoma due to DES

>rare tumor of the vagina encountered exclusively in women exposed to DES
>Develop most frequently on the anterior wall of the upper 3rd of the vagina

>common between 17 and 22

>abundant glycogen account for the clear nature of the cytoplasm and are essentially curable when small and asymptomatic

Clear Cell Adenocarcinoma due to DES

>although most all cases of clear cell adenocarcinoma are associated with vaginal adenosis very few women with adenosis develop this cancer

>in more advanced stages, they may spread by hematogenous or lymphatic routes

Vaginal Atresia

>congenital anomaly of the female genital tract that presents as a deformed obstructed and nonfunctional vagina that occurs in 1 in 4-5000 live female births

>often unnoticed until adolescence when pain and lack of normal menstrual flow indicated the condition- which is due to obstruction

Vaginal Atresia (cont)

>frequently associated with Rokatansky-Mayer-Kuster Hauser Syndrome
-congenital lack of a uterus, vaginal atresia, agenesis, despite normal ovaries and external genitalia

>surgery may repair atresia

Vaginal Septum

>congenital longitudinal or transverse partition within the vagina both corrected with surgery

Vaginal Septum
1. longitudinal
2. transverse

1. longitudinal- develops during embryogenesis due to incomplete fusion of the two mullerian ducts, resulting in a double vagina, with a chance of a double cervix and uterus

2.transverse-lso develops during embryogenesis when the two mullerian ducts fuse improperly to the urogenital sinus. A complete septum blocks menstrual flow and is a cause of primary amenorrhea

both- causes obstruction to flow and dyspareunia

Cervical Stenosis

>A congenital or acquired abnormality that occurs at the level of the internal os,

> The most common acquired cause is due to prior diathermy excision of cervical lesions

> Congenital stenosis is usually associated with dilation of the lower uterine segment, and may be an obstruction with menstrual flow.

> Examination reveals an elongated, rigid cervix with no elasticity and a small contracted os

Congenital Anomaly of the uterus

>Bicornis

>Uterus Didelphys

>Uterus Septae

Bicornis

is a uterus with a common fused wall between two distinct uterine cavities. Due to a failure of the common wall between the apposed mullerian ducts to degenerate, forming a single uterine cavity

Uterus Didelphys

refers to a double uterus with a double vagina. Again due to failure of the two mullerian ducts to fuse during embryonic life

Uterus septae

refers to a single uterus with a partial remaining septum, owing to failure of the wall of the fused mullerian ducts to fully resorb

Mayer Rokitansky Kuster-Hauser Syndrome

• A congenital malformation of the mullerian ducts to develop resulting in an absent uterus and a shortened malformed vagina
• Second most common cause of primary amenorrhea (after Turner Syndrome)
• Also known as Mullerian Agenesis
• Has development of female secondary sex characteristics, including breast development and pubic hair, has ovulation, and a normal 46XX chromosome complement.

Mayer Rokitanksky Kuster Hauser Syndrome

Prevalence is approx. 1 in 5000 live female births
• Comes to attention when, women at puberty, have no initial menstrual cycle
• Since there is no uterus, women cannot get pregnant. On U/S, there may be partial or total absence of the cervix and vagina
• There is also an association with renal anomalies (about 30%) hernias, and hearing defects.
• Vaginal dilators or surgery may be done to alleviate painful intercourse

Turner Syndrome

>complete or partial monosomy of x chromosome
>characterized by hypogonadism in phenotypic females; commonly affects female
>the majority of cases results from the complete monosomy-results in a 45 xo karyotype

Clinical feature of turner syndrome

>short, less than 150cm
>amenorrhea- single most important cause of primary amenorrhea accounting for 1/3 of the cases
>pt present during infancy with edema due to lymph stasis of the dorsum of the hand and feet

Turner syndrome cont

>webbing of neck - due to cystic hygroma
>as infant grow older the webbing become looseness of skin on the back of the neck
>broad shaped chest - widely spaced nipples
>pigmented nevi on the skin of the extremity and trunk

Turner Syndrome cont

>abnormal carrying angle of the arm called cubitus valgus

>congenital heart defects are common- coarctation of the aorta and bicuspid aortic valves

>cardio abnormalities are the single most important cause of death

Turner syndrome cont

>At puberty, there is failure to develop normal secondary sex characteristics-the genitalia remains infantile, breast development is inadequate, there is little pubic hair, and the ovaries are reduced to atrophic, fibrous strands (streak ovaries), resulting in infertility.

>The mental status is usually normal, but a few may exhibit some mental retardation.

Non disjunction involve the sex chromosome

...

Coarctation of the aorta

Male pseudohermaphrodite

...

46XY Disorder of sexual developmental male pseudohermaphroditsm

...

;