Congenital Abnormalities of the Female Reproductive Tract (Based on CompreGyne) Flashcards
What is the incidence of müllerian anomalies based on large studies?
1% to 3% (Nahum, 1998).
What can cause congenital abnormalities of the female reproductive tract?
Genetic errors or teratogenic events during embryonic development.
What are common consequences of major congenital abnormalities of the female reproductive tract?
Severe impairment of menstrual and reproductive functions, and associations with urinary tract anomalies.
What is the current terminology for individuals with abnormal external genitalia and associated issues?
Disorder of sexual development (DSD).
What karyotype is associated with females with masculinized external genitalia?
46,XX DSD.
What karyotype is associated with males with undervirilized external genitalia?
46,XY DSD.
What determines the degree of masculinization in females with antenatal androgen exposure?
The timing of androgen exposure during fetal development.
What congenital anomaly is associated with bifid clitoris and labial fusion?
Extrophy of the bladder.
What imaging modality is used to identify a uterus in a female neonate with ambiguous genitalia?
Transabdominal pelvic ultrasound.
What are possible causes of 46,XX DSD?
Congenital adrenal hyperplasia, genetic mutations affecting the steroid pathway, maternal androgen ingestion, or maternal overproduction of androgens.
What is the recommended approach to gender assignment in newborns with ambiguous genitalia?
A thorough evaluation and deferring gender assignment until the clinical picture is clear.
What specialists are typically included in the multidisciplinary team for managing individuals with DSD?
Medical genetics, pediatric urology, pediatric endocrinology, gynecology, and psychiatry.
What abnormalities are associated with androgen stimulation in clitoral anomalies?
Clitoromegaly, labial fusion, and partial development of a penile urethra.
What is the prevalence of extrophy of the bladder?
1 per 30,000 births.
What reproductive tract anomalies are commonly associated with bladder extrophy in females?
Vaginal anomalies and müllerian duct fusion disorders.
What are signs of ambiguous genitalia in a newborn?
Labioscrotal fusion, enlarged clitoris, urogenital sinus, and clitoromegaly.
What condition is the most common cause of virilized females with ambiguous genitalia?
Congenital adrenal hyperplasia.
What is the clinical significance of gonads palpable in the inguinal or labioinguinal region of a newborn?
It is typically indicative of testes, seen in males with ambiguous genitalia.
What condition is suggested by the absence of palpable testes in a virilized female?
Congenital adrenal hyperplasia.
What is the purpose of performing cystoscopy and vaginoscopy in a neonate with ambiguous genitalia?
To assess pelvic structures, including the location of the urethra and vagina and the presence of a cervix.
What is labial fusion, and what does it imply?
“Labial fusion may occur without clitoromegaly resulting in ambiguous genitalia. This implies a form of DSD (Disorders of Sex Development).”
What is ovotesticular DSD, and what tissues are present?
“Ovotesticular DSD is a condition where both ovarian and testicular tissues (including follicular elements) are present. either in the same or opposite gonads.”
What is the most common cause of congenital adrenal hyperplasia (CAH)?
“The most common cause is a deficiency in the 21-hydroxylase enzyme.”
What is the genetic transmission pattern of 21-hydroxylase deficiency in CAH?
“It is an autosomal recessive condition.”
What happens in the biosynthetic pathway in 21-hydroxylase deficiency?
“Cortisol production is blocked leading to an accumulation of 17-OH-progesterone which is converted into androgens.”
What are the clinical presentations of severe CAH in newborns?
“Ambiguous genitalia in 46 XX individuals and 75% of affected newborns may experience life-threatening neonatal adrenal crisis due to sodium loss.”
What are the implications of untreated mild CAH during childhood?
“It can lead to accelerated bone maturation & premature closure of epiphyseal plates and short stature.”
What is the primary treatment for CAH?
“The treatment involves cortisol replacement to suppress ACTH output and decrease androgen production.”
What prenatal intervention is sometimes used for CAH, and what is its status?
“Daily dexamethasone administration after a positive pregnancy test to suppress fetal adrenal glands. It is considered experimental and not routinely recommended.”
What is an imperforate hymen, and how does it develop?
“An imperforate hymen occurs when the central cells of the hymenal membrane fail to dissolve during fetal development. blocking the connection between the vaginal canal and vestibule.”
What are common symptoms of an imperforate hymen after puberty?
“Symptoms include cyclic cramping without menstrual flow.primary amenorrhea.hematocolpos.pelvic pain.urinary retention and bowel movement difficulties.”
How is an imperforate hymen surgically treated?
“A cruciate incision is made to relieve the obstruction. excess tissue is trimmed and hemostasis is achieved with fine absorbable sutures.”
What are partial hymenal perforations, and how might they present?
“Partial perforations (e.g. microperforate & cribriform) may cause difficulty inserting tampons or sexual activity and sometimes require surgical correction.”
What are the risks associated with testicular tissue in ovotesticular DSD?
“There is an increased risk of malignant degeneration including germ cell tumors like gonadoblastomas and dysgerminomas.”
What is the role of neonatal screening for CAH in the United States?
“It involves mandatory testing for 17-OH progesterone levels to detect CAH.”
How does clitoromegaly manifest in a patient with 21-hydroxylase deficiency?
“Clitoromegaly may occur along with thick genital hair and signs of virilization such as facial hair.”
What are Müllerian anomalies, and what structures do they affect?
Müllerian anomalies are congenital anomalies of the female reproductive tract caused by defects in the development of the müllerian ducts which give rise to the fallopian tubes.uterus.cervix and part of the vagina.
When does genetic sex determination occur and when is the male or female phenotype defined?
Genetic sex is determined at fertilization but the male or female phenotype is not defined until after the sixth week of development.
What ducts are present between the third and fifth weeks of embryologic development?
Both the wolffian (mesonephric) and müllerian (paramesonephric) ducts are present.
What are the steps of müllerian duct development?
The steps are elongation. fusion. canalization and septal resorption.
What structure forms from the inferior portion of the müllerian ducts?
The inferior portion becomes the upper vagina followed by the cervix and uterus.
What are the categories of müllerian anomalies?
The categories are agenesis and hypoplasia. lateral fusion defects.vertical fusion defects and anomalies due to in utero exposure to diethylstilbestrol (DES).
What is Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome?
It is a condition characterized by congenital absence of the vagina and variable development of the uterus caused by failure of müllerian duct development.
What percentage of women with MRKH syndrome have rudimentary uterine tissue?
7% to 10% of women with MRKH syndrome have rudimentary uterine tissue.
What are common anomalies associated with müllerian agenesis?
Urinary tract anomalies (renal agenesis.pelvic kidney.multicystic dysplastic kidney.ureteral duplication).skeletal anomalies.cardiac defects and hearing loss.
What is the first-line treatment for vaginal agenesis?
The first-line treatment is the use of vaginal dilators for nonsurgical creation of a neovagina.
What are common surgical options for creating a neovagina?
Surgical options include using split-thickness skin grafts.buccal mucosa.peritoneum.bowel (sigmoid or small bowel) or synthetic tissue grafts.
What is androgen insensitivity syndrome (AIS)?
AIS is a condition in individuals with a 46 XY karyotype where defective androgen receptors lead to feminized external genitalia and a short vaginal pouch.
What is the karyotype of individuals with androgen insensitivity syndrome?
46 XY.
What reproductive structures are absent in androgen insensitivity syndrome due to anti-müllerian hormone?
The müllerian ducts are resorbed. leading to the absence of fallopian tubes. uterus and upper vagina.
What is a key presentation of androgen insensitivity syndrome?
Primary amenorrhea in phenotypic females who are tall and have sparse to no pubic hair.
Why are undescended testes removed in androgen insensitivity syndrome?
To prevent the development of gonadoblastoma.
How is vaginal agenesis diagnosed?
Diagnosis involves physical examination, imaging like ultrasound or MRI and karyotyping. revealing a 46,XX karyotype and absence of a uterus.
What are some nonsurgical techniques to maintain a surgically created neovagina?
Vaginal dilators or regular intercourse can help maintain the neovagina.
What imaging modality provides detailed evaluation of müllerian agenesis?
Magnetic resonance imaging (MRI) provides detailed evaluation.
What are functional rudimentary horns, and what complications can they cause?
Functional rudimentary horns contain endometrial lining and can cause retrograde menstruation leading to cramping. pelvic pain and endometriosis.
What is a transverse vaginal septum?
“A transverse vaginal septum occurs due to partial canalization of the vaginal plate. leaving a band of tissue across the vagina. It can be partial (perforate) or complete and most commonly lies at the junction between the upper third and lower two-thirds of the vagina.”
What is the incidence of transverse vaginal septum?
“Approximately 1 per 75 000 females.”
What are the common symptoms of a complete transverse vaginal septum after menarche?
“Primary amenorrhea
What is the gold standard imaging technique for diagnosing congenital uterine anomalies?
“MRI is the gold standard for diagnosing congenital uterine anomalies.”
What are the six categories of uterine anomalies based on the American Fertility Society classification?
“Category I: Hypoplasia/agenesis; Category II: Unicornuate; Category III: Didelphys; Category IV: Bicornuate; Category V: Septate; Category VI: Arcuate.”
What is the recommended treatment for a thin transverse vaginal septum?
“The septal tissue is excised and the proximal and distal vaginal tissue are sutured together to create a normal vagina.”
What condition is often associated with Mayer-Rokitansky-Küster-Hauser syndrome?
“Vaginal agenesis.”
What are common symptoms of obstructive uterine anomalies?
“Cyclic or noncyclic pelvic pain. dysmenorrhea. hematometra. retrograde menstruation and endometriosis.”
What are potential obstetric outcomes associated with congenital uterine anomalies?
“Recurrent pregnancy loss. intrauterine growth restriction. preterm labor and delivery. placental abruption. malpresentation and intrauterine fetal demise.”
What is the live birth rate after hysteroscopic metroplasty for uterine septa correction?
“Live birth rates improve from 50% to approximately 80% and miscarriage rates decrease from 45% to approximately 15%.”
What anomalies are commonly seen with a didelphys uterus?
“A duplicated vagina and a longitudinal vaginal septum often presenting with hematocolpos and hematometra on one obstructed side.”
What is a unicornuate uterus often associated with?
“A contralateral rudimentary uterine horn that may contain functional endometrial tissue.”
What are the two most common uterine anomalies diagnosed through imaging?
“Arcuate uterus and septate uterus.”
What are accessory and supernumerary ovaries?
“Accessory ovary refers to excess ovarian tissue connected to a normal ovary while supernumerary ovary refers to a third ovary separated from the normal ones.”
What is the first presentation of a longitudinal vaginal septum in many women?
“Difficulty with tampon insertion. bleeding around one tampon or dyspareunia.”
What are the reproductive risks associated with a uterine septum?
“Increased risk of recurrent pregnancy loss. second-trimester pregnancy loss and poor obstetric outcomes.”
What is the surgical recommendation for a unicornuate uterus with a functional rudimentary horn?
“Excision of the functional rudimentary horn and the attached fallopian tube to prevent gestation in the horn and treat hematometra or pelvic pain.”
What are the risks of pregnancy in an obstructed or rudimentary uterine horn?
“An 89% rate of rupture with related morbidity and mortality.”
What is the incidence of uterine anomalies in women with recurrent pregnancy loss?
“Approximately 12% to 16% and as high as 25% in women with second-trimester pregnancy loss.”
What is the preferred imaging modality for distinguishing between a bicornuate and septate uterus?
“Three-dimensional (3D) ultrasound or MRI.”
