Anatomic Disorders of Female Reproductive System may result from:

Genetic mutation Developmental arrest Environmental insults that may exert their effects at critical stages of embryonic development

Normal Embryology
Overview

Congenital Ambiguity of the Genital Tract

Female pseudohermaphroditism
Pathophysiology -excessive androgen exposure of an embryo or fetus -excessive androgn exposure may stem from adrenal abnormalities or nonadrenal sources + Treatment -genitoplasty

Male Pseudohermaproditism
+ Pathophysiology -insufficient androgen exposure of fetus + Presentation and Treatment -external genetalia appear as normal female -an incomplete form -treatment consists of replacement with phy siologic level of estrogen and creation of a fung sional vagina either by dilatation or surgical vagi noplasty

Disorders of Genetic or Gonatal Development

*Gonatal Dysgenesis -nondisjunction of parental chromosomes and leads to abnormal gonadal development and streak gonad -The classic stigmata of turner syndrome -short stature (final height less than 58 inches) -widely spaced nipples -webbed neck

*True Hermaphroditism -a thrue hermaphroditism has both ovarian an testicular gonadal tissue -the testes are usually small -penis may be small -azoospermia

*Embryonic testicular regression -MIS may or may not be produced -the uterus may be present or absent

Defects of the Bladder and Perineum

+Bladder exstrophy -failure of the cloacal membrane to be reinforced by an ingrowth of mesoderm -the characteristic widening of the symphysis pubis -The urethra and vagina are typically short and the vaginal orifice is frequently stenotic and displaced anteriorly. -The clitoris is duplicated or bifid, and the labia, mons pubis, and clitoris are divergent

 Treatment -Reconstruction of the female genitalia

Defects of the Clitoris

*Clitoral Anomalies - bifid clitoris - Female epispadias can be divided into three types vestibular, subsymphyseal, and retrosymphysealwhich are differentiated by the type of urethral involvement (Schey, 1980

 Clitoromegaly - fetal exposure to excessive androgens -Adult women with exposure to androgen excess may also present with some degree of clitoromegaly

*Labial Fusion -young neonates or prepubertal girls when the labia and vagina are not adequately estrogenized

Hymeneal Defects
*Description and Patient Presentation -The hymen is the membranous vestige of the junction between the sinovaginal bulbs and the urogenital sinus - A variety of hymeneal abnormalities - microperforate, septate, cribriform, and imperforate hymen

 hydromucocolpos In infants, the obstructed vagina may distend from mucus accumulation

 Hematocolpos -adolescents present after menarche and menstrual blood trapped in the vagina behind the imperforate hymen

 Treatment of Hymenal Defects - Hymenectomy

Transverse Vaginal Septum

Description and Patient Presentation -Vertical fusion refers to complete cavitation of the vaginal plate between the sinovaginal bu lbs and uterovaginal canal -In neonates and infants, obstructive transverse vaginal septum has been associated with fluid and mucus collection in the upper vagina, resulting in a mass that that may be large enough to compress abdominal or pelvic organs (Adaletli, 2007). It has been reported to limit diaphragmatic movement, and neonatal deaths have been reported.

-Patients with obstructive transverse vaginal septum usually present during adolescence with cyclic lower abdominal pain, amenorrhea, and gradual development of a central pelvic mass.

 Diagnosis and Treatment -The diagnosis is suspected when an abdominal or pelvic mass is palpated or when a foreshortened vagina and inability to identify the cervix is encountered. Diagnosis is confirmed by either sonography or magnetic resonance (MR) imaging. Magnetic resonance imaging is most helpful prior to surgery to determine the thickness and depth of the transverse septum -surgical therapy

Longitudinal Vaginal Septum -A longitudinal vaginal septum results from defective lateral fusion and incomplete reabsorption of the paired mllerian ducts

Mllerian Anomalies

 Vaginal Agenesis Females with vaginal atresia lack the lower portion of the vagina, but otherwise have normal external genitalia-

 Mllerian Agenesis the uterus, cervix, and upper part of the vagina are absent -

 Unicornuate Uterus Arrested or defective development of only one of the mllerian ducts results in a unicornuate uterus -

 Uterine Didelphys -This anomaly is characterized by the presence of two endometrial cavities, each with a uterine cervix

 Bicornuate Uterus -A bicornuate uterus is caused by incomplete lateral fusion of the mllerian ducts. It is characterized by two separate but communicating endometrial cavities and a sin gle uterine cervix -

 Septate Uterus -After lateral fusion of the mllerian ducts, failure of their medial segments to regress can create a permanent septum within the uterine cavity -septate uterus is associated with a marked increase in spontaneous abortion (Heinonen, 2006

 Arcuate Uterus -An arcuate uterus is only a mild deviation from the normally developed uterus

Cervical Defects
Cervical Defects - These patients initially present similarly to patients with other obstructive anomalies, that is, with primary amenorrhea and cyclic abdominal or pelvic pain.

 Cervical Stenosis Symptoms of stenosis in menstruating women include dysmenorrhea, abnormal bleeding, amenorrhea, and infertility -

Ovarian Anomalies
A supernumerary ovary is an ectopic ovary that has no connection with the broad, uteroovarian, or infundibulopelvic ligaments

 the term accessory ovary is used when excess ovarian tissue is noted near a normally placed ovary and is connected to it

Fallopian Tube Anomalies

Congenital Tubal Disease - the appendix vesiculosa