CONGENITAL ABNORMALITIES IN FEMALE REPRODUCTIVE TRACT Flashcards
What are the paramesonephric ducts and mesonephric ducts?
“Paramesonephric ducts are Mullerian ducts and mesonephric ducts are Wolffian ducts.”
What is the function of the SRY gene in XY individuals?
“The SRY gene activates pathways causing gonads to differentiate into a testis.”
Which enzyme converts testosterone to dihydrotestosterone?
“5-alpha-reductase type 2.”
What structures develop from the genital tubercle, genital swellings, and genital plate in males?
“The genital tubercle develops into the glans penis & genital swellings fuse into the scrotum and the genital plate forms the shaft of the penis.”
What hormone leads to regression of the Mullerian ducts in males?
“Anti-Mullerian hormone (AMH).”
What structures form from the Mullerian ducts in the absence of AMH?
“The uterus & fallopian tubes and upper two-thirds of the vagina.”
What happens to the genital tubercle and genital folds in XX individuals without androgen activation?
“The genital tubercle develops into the clitoris and the genital folds develop into the labia minora.”
What is the first stage of Musset’s 3-stage process?
“The medial aspects of the caudal portions of the Mullerian ducts fuse to form a median septum.”
What occurs in the second stage of Musset’s process?
“Rapid cell proliferation forms the triangular space between uterine cornua and the lower median septum resorbs to unify the cervical canal and upper vagina.”
What is a disorder of sexual development (DSD)?
“DSD refers to arrested disrupted or inappropriate processes during normal sexual development.”
What is ovotesticular DSD?
“A condition with both ovarian and testicular tissue either in the same or opposite gonads.”
What are 46 XX DSD and 46 XY DSD?
“46 XX DSD: Females with masculinized external genitalia; 46 XY DSD: Males with undervirilized external genitalia.”
How can clitoral anomalies occur?
“Clitoral enlargement occurs due to androgen stimulation often in CAH or exposure to high levels of androgens in utero.”
What is the most common cause of labial fusion?
“Congenital adrenal hyperplasia (CAH) usually due to 21-hydroxylase deficiency.”
What are potential complications of CAH in newborns?
“Life-threatening adrenal crisis due to sodium loss & accelerated bone maturation and premature secondary sexual characteristics.”
How is CAH treated?
“Cortisol replacement therapy suppresses ACTH output and decreases androgen production.”
What are hymenal anomalies, and what is an imperforate hymen?
“Hymenal anomalies are structural issues of the hymen; an imperforate hymen blocks the vaginal canal leading to cryptomenorrhea and hematocolpos.”
How is an imperforate hymen treated?
“Cruciate incision extending to specific clock positions followed by hemostasis with fine sutures.”
What determines the degree of masculinization in ambiguous genitalia?
“The timing of androgen exposure; after 12 weeks causes clitoral hypertrophy and before 12 weeks leads to labioscrotal fusion and urogenital sinus retention.”
What are key steps in examining a newborn with ambiguous genitalia?
“Assess genital anatomy & palpate inguinal areas for masses and perform imaging& karyotyping and hormone evaluations as needed.”
What is the Prader scale used for?
“It measures the degree of masculinization in ambiguous genitalia.”
What are Mullerian anomalies?
Congenital anomalies of the female reproductive tract caused by defects in the development of the Mullerian ducts
What is another name for vaginal agenesis?
Mullerian agenesis or Mullerian aplasia.
What syndrome is vaginal agenesis associated with?
Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome.
What are the clinical features of females with Mullerian agenesis?
Normal pubertal development (46 XX karyotype with normal ovaries)
What percentage of women with Mullerian agenesis have urinary tract anomalies?
Up to 50%.
What are the two main treatment options for vaginal agenesis?
Non-surgical dilation using progressive vaginal dilators and surgical reconstruction.
What is the goal of treatment for vaginal agenesis?
To create a functional vagina when the patient wishes to become sexually active.
What is the Abbe-McIndoe procedure used for?
Surgical reconstruction of the vagina by creating a space between the bladder and rectum
What is the Vecchietti procedure?
A laparoscopic technique where sutures are placed in the peritoneal folds and traction is applied to create a neovagina.
What is a transverse vaginal septum?
A band of thick tissue across the vagina due to partial canalization of the vaginal plate.
What are the symptoms of a transverse vaginal septum?
Primary amenorrhea with cyclic cramping.hematocolpos. hematometrium and sometimes foul-smelling discharge.
What is vaginal adenosis?
Presence of Mullerian tissue remnants in the adult vagina often associated with in utero exposure to DES.
What imaging modality is the gold standard for diagnosing uterine anomalies?
MRI.
What are some symptoms of obstructive uterine anomalies?
Cyclic and non-cyclic pelvic pain.dysmenorrhea.hematometra and retrograde menstruation leading to endometriosis.
What are the obstetric risks associated with congenital uterine anomalies?
Recurrent pregnancy loss . intrauterine growth restriction
What is the classification system for uterine anomalies?
The American Fertility Society classification.
What is a didelphic uterus?
A complete duplication of the vagina. uterus and cervix.
What is a bicornuate uterus?
A uterus with a single chamber vagina and cervix but a partial or complete septum dividing two uterine bodies.
What is a septate uterus?
A uterus with a single organ but a partial or complete septum.
What is the surgical correction for a septate uterus?
Hysteroscopic metroplasty to incise the septum and achieve a normal uterine cavity.
What are accessory and supernumerary ovaries?
Accessory ovaries are excess ovarian tissue near a normal ovary while supernumerary ovaries are separate third ovaries . usually in the omentum or retroperitoneum.
What is the clinical significance of ovotestes?
Presence of testicular tissue increases the risk of malignant degeneration; these gonads should be removed after puberty.
What is the most common enzyme deficiency in congenital adrenal hyperplasia?
21-hydroxylase deficiency.
What are the complications of congenital adrenal hyperplasia in female neonates?
Ambiguous genitalia and up to 75% may develop a sodium-wasting adrenal crisis.
What is the prevalence of uterine anomalies in the female population?
Approximately 2%-3%.
What uterine anomaly can be easily corrected with surgery?
Uterine septum.
What is the Strassman technique?
Abdominal metroplasty to unify a bicornuate or didelphic uterus in women with poor obstetric outcomes.
What percentage of women with first trimester recurrent miscarriage have a uterine anomaly?
Approximately 15%.
What are the surgical goals for uterine anomalies?
Restoration of pelvic anatomy . preservation of fertility and treatment of pelvic pain and endometriosis.
What is a unicornuate uterus?
A uterus with absent development of one Mullerian duct.
