CONGENITAL ABNORMALITIES IN FEMALE REPRODUCTIVE TRACT Flashcards
(51 cards)
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.
