Female Developmental Flashcards
In females, the ______ ducts fuse to form the fallopian tubes, uterus, cervix, and ____.
paramesonephric
upper vagina
Incomplete ______ fusion of the paramesonephric ducts results in a bicornuate uterus characterized by an indentation in the center of the fundus.
lateral fusion
*bicornate (V shaped uterus)
When a patient has difficulty conceiving or recurrent pregnancy loss, structural uterine anomalies can be screened by ______, which involves contrast injection through the cervix into the uterus with a concurrent pelvic x-ray.
hystero-salpingo-gram (HSG)
Patient’s HSG shows 2 unfused uterine horns with a central filling defect, which can represent a _____ uterus or a ______
bicornuate (V shaped uterus)|
longitudinal uterine septum (1 uterus completely split into 2 by a muscular septum)
2 separate uterus & cervix with an associated ovary
Didelphys uterus
caused by incomplete degeneration of the central portion of the fibrous tissue band connecting the walls of the vagina.
Adolescent patients typically present with primary amenorrhea, normal secondary sexual characteristics, and cyclic abdominal or pelvic pain due to accumulation of menstrual blood in the vagina and uterus aka ___
Imperforate hymen
hematocolpos
Common manifestations of \_\_\_\_\_\_ include primary amenorrhea short stature high arched palate widely spaced nipples webbed neck
Turner syndrome (45,XO)
Primary amenorrhea occurs in Turner syndrome due to in utero degeneration of the _____ with replacement by fibrotic tissue.
ovarian follicles (gonadal dysgenesis)
*ovaries appear underdeveloped and atrophic (“streak gonads”)
____ manifests in the neonate with lymphedema, cystic hygromas (mass behind head), and or diminished femoral pulses (suggestive of ________)
Turner syndrome (45,XO)
coarctation of the aorta
Turner syndrome is characterized by a 45,X karyotype due to loss of ____
paternal chromosome X
Partial molar pregnancies have ___ or ____ karyotype as the result of fertilization of an ovum by ______
69,XXX
69,XXY
2 sperm
Partial moles typically contain:
fetal tissue
normal placental villi
intermixed with ____
hydropic villi
A complete mole has ____ and is composed entirely of
large, edematous, and disordered chorionic villi
appears grossly as ____ of vesicular structures.
no fetal structures
clusters of vesicular structures
“bunch of grapes”
Pelvic pain
vaginal bleeding
larger than expected uterus for gestational age
markedly β-hCG levels (trophoblastic hyperplasia)
Complete mole
Ultrasound demonstrates:
central heterogenous mass
multiple cystic areas
Complete mole
“Swiss cheese” or “snowstorm” pattern
Risk factors for molar pregnancies include prior molar pregnancy prior miscarriage \_\_\_\_\_\_\_ infertility.
extremes of maternal age
A complete mole most commonly results from the fertilization of an ovum that has _____ by one sperm (90% of cases).
no maternal chromosomes
(either due to absence or inactivation)
the haploid sperm replicates to form
(46 XX) purely paternal genome
*46,YY moles from duplication of 23Y sperm have not been observed, as a zygote without an X chromosome would not survive.
A complete mole can also form from the fertilization of an ovum that has no maternal chromosomes by \_\_\_\_\_ (10% of cases).
two sperm
(46 XX, 46 XY) purely paternal genome
In vitro fertilization using a donated ovum is the most promising means of achieving pregnancy in a woman with
Turner syndrome
Turner syndrome is a genetically heterogeneous condition that is most commonly due to ____ during gametogenesis.
meiotic nondisjunction
The loss of all or part of the X chromosome in Turner syndrome results in a missing ___ gene, which normally promotes long bone growth.
SHOX
______ results in a mixture of normal and mutated somatic cells, often leading to a milder form of the disease.
these patients are missing the X chromosome in only some of their cells 45,X/46,XX
Somatic mosaicism
2 karyotypes evident on analysis
Pt with ____ have no upper vagina (short vaginal canal/ blind pouch) and variable uterine development. These patients are 46,XX females with normal ovaries and secondary sexual characteristics.
Müllerian aplasia (complete agenesis of paramesonephric ducts)
Mayer-Rokitansky-Küster-Hauser syndrome
The lower vagina originates from the _______ and
The upper vagina originates from the _______
urogenital sinus
Mullerian ducts (paramesonephric)
A transverse vaginal septum is an example of failed ______ of the paramesonephric ducts with the urogenital sinus.
This causes primary amenorrhea with cyclic pelvic pain from hematometra (menses retained in the uterus)
vertical fusion
A _______ is an example of failed vertical fusion of the paramesonephric ducts with the urogenital sinus.
transverse vaginal septum
left ovarian vein thrombosis can extend to the left renal vein. Right ovarian vein thrombosis can extend to the
IVC
Aromatase converts the androgens into estradiol.
It is located in what cell type?
Granulosa cells
What cells have the FSH receptor?
Granulosa cells/ Sertoli cells
What cells have the LH receptor?
Theca Cells/ Leydig cells
What cells produce progesterone and androgens in females?
Theca interna Cells
The absolute contraindications to the use of OCPs are:
Prior history of thromboembolic event or stroke
History of an estrogen-dependent tumor
Women over age 35 years who ___
Hypertriglyceridemia
Decompensated or active liver disease (would impair steroid metabolism)
Pregnancy
smoke heavily
Immediately prior to delivery, ___ stimulates upregulation of gap junctions between individual myometrial smooth muscle cells.
An increase in gap junction density at delivery heightens myometrial excitability.
Gap junctions consist of aggregated ____ proteins that allow passage of ions between myometrial cells.
estrogen
connexin
Ant- Post axis (limb bud) patterning
CNS development
*Holoprosencephaly
Sonic (SHH)
Dorsal-ventral axis
Apical Ridge
Wnt-7
Limb lengthening
Apical Ridge
Fibroblast Growth Factor (FGF)
Carnio-caudal axis
Segmental organization
HOX genes
Arrested Oocyte phases:
At birth __
At Ovulation __
Prophase I
Metaphase I
Extrinsic tissue disruption (ex: crowding = clubbed feet)
Deformation
Intrinsic tissue disruption during embryonic period
Malformation
No primordial tissue = no structure
Agenesis
Primordial tissue, but no structure
Aplasia
Primordial tissue, but incomplete structure
Hypoplasia
Previously normal tissue is broken down
Disruption
Both cystic hygromas (cystic posterior neck mass) and lymphedema occur due to abnormalities of lymphatic outflow in _____ syndrome
Turner syndrome
The normal physiology of pregnancy involves chronic ___ caused by elevated progesterone levels stimulating an increase in central respiratory drive.
hyperventilation
Give an opioid addicted baby morphine or
methadone
detachment of the placenta from the uterus prior to fetal delivery, presents with painful vaginal bleeding; a tender, firm uterus; and fetal heart rate abnormalities. Risk factors include abdominal trauma, maternal hypertension, and tobacco or cocaine use
Abruptio placentae
the fetal vessels traverse the internal cervical os and are unprotected/vulnerable to injury.
Patients typically have painless vaginal bleeding.
vasa previa
placental implantation over the cervix, typically presents in the
third trimester with painless vaginal bleeding and no uterine tenderness.
Placenta previa
full-thickness disruption of the uterine wall, is associated with severe lower abdominal pain, vaginal bleeding, and fetal heart rate tracing abnormalities (eg, bradycardia).
Typically occurs in patients with prior cesarean delivery has a uterus with palpable fetal parts
Uterine rupture
High risk of DIC in this pregnancy complication
Abruptio placentae
is associated with maternal HTN, abdominal trauma, use of tobacco or COCAINE (vasoconstrictors causing placental ischemia)
Abruptio placentae
Prevent neonatal Intracranial hemorrhage with a Vitamin __ shot
K
Pregnant women > 20 weeks gestation can experience compression of the ___ by the gravid uterus while in the supine position. This reduces venous return and cardiac output, which can result in hypotension and syncope.
inferior cava
___-induced cholesterol hypersecretion and _____-induced gallbladder hypomotility are responsible for the increased incidence of cholelithiasis in women who are pregnant or using oral contraceptives.
Estrogen
progesterone
A complete mole is composed of multiple cystic edematous hydropic villi as a result of trophoblast proliferation. Serial measurements of β-hCG should be performed following evacuation of a __ mole.
hydatidiform
is new-onset hypertension at ≥20 weeks gestation plus proteinuria and/or signs of end-organ damage.
Preeclampsia
Preeclampsia is caused by widespread maternal endothelial cell damage due to release of antiangiogenic factors from an ___ placenta.
ischemic
*The result is widespread capillary leakage (proteinuria, edema) and vasospasm (hypertension, end-organ hypoperfusion [eg, renal failure]).
Pathology shows fetal tissue, focal trophoblastic hyperplasia, and some enlarged villi interspersed with normal villi.
partial mole (69XXX/Y)
Fetal hyperinsulinemia persists for several days following birth and predisposes the infant to transient
hypoglycemia
Uterine curettage would reveal decidual changes in the endometrium due to progesterone secretion but no embryonic or trophoblastic tissue (eg, no villi).
ectopic pregnancy
Straight, short endometrial glands and compact stroma are found in the early ____ of the menstrual cycle.
proliferative phase
A ___ anomaly is caused by extrinsic forces on a developing fetus.
deformation
white pupils (cataracts), hearing loss, machine murmur (PDA)
congenital rubella
Live attenuated vaccine
Pre-eclampsia causes proteinuria and decreased
VEGF
*endothelin and TXA2 are increased (vasoconstrictors)
Pre-eclampsia can cause vision problems does to retinal artery
vasospasm
occurs due to placental invasion into the myometrium through defects in the decidua basalis.
Placenta accreta spectrum
Placenta accreta spectrum creates a morbidly adherent placenta that does not detach after fetal delivery, leading to
postpartum hemorrhage
*Manual placental extraction typically yields small placental fragments and increases bleeding.
Common signs include hypoxia, hypotensive shock, and disseminated intravascular coagulation. Fetal squamous cells are seen in the pulmonary vasculature during histologic evaluation.
Amniotic fluid embolism
Partial progesterone agonist (acts as progesterone antagonist during pregnancy)
Promotes placental separation & uterine contractions
Mifeprostone
Prostaglandin E1 agonist
Stimulates uterine contractions
Misoprostol
Ectopic pregnancy
Folic acid antagonist (inhibits dihydrofolate reductase)
Preferentially destroys proliferating fetal cells
Methotrexate
Human placental lactogen increases maternal __ resistance
insulin
Use of these antihypertensive drugs during pregnancy can result in fetal anuria, oligohydramnios, pulmonary hypoplasia, limb contractures, and calvarium/face bones defects.
ACE-I
ARBs
Patients with a ruptured ___ have severe intraabdominal bleeding, which causes diffuse abdominal pain with rebound/guarding and hemodynamic instability.
ectopic pregnancy
Pregnant women with severe ____ can develop HELLP (Hemolysis, Elevated Liver enzymes, Low Platelet count) syndrome.
preeclampsia
patients are also at risk for seizure, renal insufficiency, and disseminated intravascular coagulation due to widespread endothelial dysfunction.
preeclampsia
Maternal ___ infection produces a low-grade fever, a maculopapular rash with cephalocaudal progression, and posterior auricular and suboccipital lymphadenopathy.
rubella
Patients with preeclampsia are at risk for fetal growth restriction and oligohydramnios due to
abnormal placental ____ artery development,
which leads to
increased placental vascular resistance,
decreased uteroplacental perfusion
decreased umbilical vein oxygen delivery.
spiral artery
a teratogenic medication that decreases maternal folate levels and increases the risk of fetal neural tube defects
Valproate
It is associated with low levels of maternal serum α-fetoprotein and estriol and increased levels of β-hCG and inhibin A.
Down syndrome
___ α-fetoprotein levels are seen in multiple gestation, open neural tube defects, and abdominal wall defects.
Elevated
Renal effects of preeclampsia include oliguria with increased specific gravity, proteinuria, and serum ___ levels.
creatinine
Drug associated with Ebstein’s anomaly, which is characterized by apical displacement of the tricuspid valve leaflets
Lithium
Deficiency of this enzyme causes accumulation of androgens during pregnancy, resulting in ambiguous external genitalia in newborn girls and maternal gestational virilization.
Aromatase
deficiency causes ambiguous genitalia in boys and increased production of mineralocorticoids (hypertension, hypokalemia).
Girls have phenotypically normal genitalia.
17 alpha hydroxylase
Deficiency causes Increased androgen production causes ambiguous genitalia in girls
21 hydroxylase
foul-smelling discharge after pregnancy termination.
Septic abortion
Common offending pathogens of septic abortion include (2)
Staphylococcus aureus and E. Coli
*due to seeding of the uterine cavity during instrumentation.
