Flashcards in First Aid: Reproduction Deck (90):
A child is born with holoprosencephaly, what is the likely mutation in this child?
What if the child had appendages in wrong locations, what mutation would cause this?
Sonic hedgehog gene mutation can cause holoprosencephaly
Hox genes determine segmental organization of embryo in craniocaudal direction
Which gene is necessary for proper organization along a dorsal-ventral axis?
Which gene stimulates mitosis of underlying mesoderm, causing lengthening of limbs?
Which stage of early fetal development is extremely susceptible to teratogens? What happens during this period?
Weeks 3-8, Embryonic Period
Neural tube formed by neuroectoderm (closes by week 4). Organogenesis occurs
What is significant during weeks 1, 2, 3, and 4 of development?
1 = hCG secretion around time of blastocyst implantation
2 = 2 layers, Bi-laminar disc (epiblast, hypoblast)
3 = 3 layers, trilaminar disc, gastrulation, primitive streak, notochord, mesoderm and its organization, and neural plate begin to form
4 = 4 limbs, upper/lower limb buds form, HEARt begins to beat
A pregnant patient comes in for a follow-up and you notice fetal cardiac activity on transvaginal US, which was not available during US the previous week. What week of fetal development is the fetus in? During which week would you be able to identify male/female genitalia?
She is in week 6
At week 10 will see genitalia
Which embryo derivatives give rise to PNS and CNS?
PNS = Neural Crest
CNS = Neuroectoderm
A baby presents with craniopharyngioma. What would you find in this mass, and what embryo derivative did it develop from?
Benign Rathke Pouch tumor with cholesterol crystals, and calcifications.
Name all of the possible Mesodermal defects:
Limb defects (bone/muscle)
A mother who is in her first trimester of pregnancy is highly at risk for a DVT. What should you prescribe her, what should you avoid?
Give her HEPARIN (does not cross placenta)
Warfarin is teratogen
A baby has renal damage, absence of digits, CN VIII toxicity, and neural tube defects along with developmental delay and intrauterine growth retardation. What drugs must have been given to the mother?
ACE inhibitiors - renal
Alkylating agents - Absence of digits
Aminoglycosides - CN VIII
Carbamazepine - everything else
Folate antagonists, Valproate may also cause neural tube defects
A baby presents with microcephaly, dysmporphic craniofacial features, hypoplastic nails and distal phalanges, cardiac defects, IUGR and intellectual disability. What are these constellation of symptoms and what could be one cause of this?
Fetal hydantoin syndrome
Which drug may cause an Ebstein anomaly (atrialized RV)?
A baby presents with caudal regression syndrome (anal atresia to sirenomelia), congenital heart defects and neural tube defects. What could be the cause?
What may result in the fetus from Vit. A excess in the mother?
Extremely high risk for spontaneous abortions and birth defects (cleft palate, cardiac abnormalties).
What are fetuses at risk for if the mother gets an XRay?
Microcephaly and intellectual disability
What is the most common monozygotic twin and what embryonic tissues do they share? What is least common? What is in the middle and when did cleavage for this occur?
75% cleavage occurs at 4-8 days (between morula and blastocyst) - monochorionic, diamniotic
<1% cleavage at 8-12 days (between blastocyst and formed embryonic disc) - monochorion, monoamnion
25% cleavage occurs 0-4 days (between 2-cell stage and morula) - dichorionic, diamniotic, placenta may be fused or separate
Which fetal embryological structure secretes hCG and stimulates corpus luteum to secrete progesterone during first trimester?
Which structure is responsible for making fetal cells of placenta?
Synctiotrophoblast (outer layer of chorionic villi)
Cytotrophoblast makes cell
Where is the maternal placental component derived from?
What are the components of the umbilical cord and where are these parts derived from? What vessels do they connect? What are defects in this structures associated with?
2 umbilical arteries - return deox blood from fetal internal iliac arteries to placenta
1 umbilical vein - supplies oxy blood from placenta to fetus (drains into IVC via liver or ductus venosus)
These arteries and vein are derived from ALLANTOIS
Single umb. artery associated with congenital and chromosomal anomalies
A baby presents with urine discharge from umbilicus. What failed to occur in this child?
What if the child had a fluid-filled cavity lined with uroepithelium between the umbilicus and bladder? What is worrisome here?
Patent Urachus - failure of urachus to obliterate
Urachal Cyst - partial failure to obliterate --> risk for infection and adenocarcinoma
What connects the yolk sac to the midgut lumen and when is this structure destroyed?
What connects fetal bladder to the yolk sac?
Vitelline duct (obliteration at 7th week)
A baby presents with melena, periumbilical pain and ulcers. They show signs of ectopic gastric mucosa and pancreatic tissue. How did this problem arise?
Meckel diverticulum - partial closure of Vitelline duct, with patent portion attached to ileum (true diverticulum)
A baby presents with meconium discharge from the umbilicus, what failed to occur in this child?
Failure of Vitelline duct to close leading to vitelline fistula
Describe the structure of the branchial apparatus:
CAP covers outside to inside
Clefts = ectoderm
Arches = mesoderm
Pouches = endoderm
A patient has a branchial cleft cyst within the lateral neck. Where did this structure develop from?
2-4 branchial clefts form temporary cervical sinuses, persistent cervical sinuses lead to cyst.
(1st cleft develops into external auditory meatus)
A baby presents with mandibular hypoplasia and facial abnormalities. You recognize problems in CN V2 and V3 and in the muscles of mastication. What led to this syndrome?
1st branchial arch neural crest failed to migrate --> Treacher Collins Syndrome
1st arch = M cartilages and M muscles (CHEW!!)
A baby presents with a fistula between the tonsillar area and lateral neck. Where does this defect stem from and where could you have other problems associated with the origin structure for this deficit?
Congenital pharyngo-cutaneous fistula - persistence of cleft and pouch of SECOND branchial arch
2nd arch "Smile" - Stapes, styloid proces, stylohyoid ligament and muscles of facial expression: stapedius, stylohyoid, platySma. CN VII could be affected
What is a helpful pneumonic for remembering the branchial arch derivatives and their associated cranial nerves?
When at the restaurant of the golden ARCHES, children tend to first CHEW (1), then SMILE (2), then SWALLOW STYlishly (3) or SIMPLY SWALLOW (4) and then SPEAK (6)
What structures are the branchial pouches a derivative of?
Ear, tonsils, bottom-to-top
3 dorsal (bottom for inferior parathyroids)
3 ventral (to = thymus)
4 top = superior parathyroids)
A baby presents with T-cell deficiency and hypocalcemia. A more thorough exam reveals conotruncal anomalies in the heart. What could be the cause of these symptoms?
DiGeorge Syndrome from abberrant development of 3rd and 4th pouches --> thymic aplasia and failure of parathyroid development lead to symptoms
How does a cleft lip and cleft palate develop? Do they usually occur separately or together?
Cleft lip - maxillary and medial nasal processes fail to fuse
Cleft palate - two lateral palatine processes or lateral palatine processes and nasal septum/median palatine process fail to fuse
Occur together usually
A baby presents with pheochromocytoma, parathyroid tumor and medullary thyroid cancer. What did these problems arise from?
MEN 2A - arising from mutation of germline RET (neural crest cells)
-problems in adrenal medulla, 3/4 pharyngeal pouches, and 4/5 pharyngeal pouches respectively
What key processes are necessary to induce male genital development?
1. SRY gene on Y chrom produces tesis-determining factor making balls
2. Sertoli cells secrete Mullerian inhibitory factor (MIF) supressing development of paramesonephric ducts
3. Leydic cells secrete androgens stimulating development of mesonephric duct
If a girl has fully developed secondary sex characteristics but primary amenorrhea, from where may the defect stem from?
Mullerian (paramesonephric) duct abnormalities
The mesonephric (Wolffian) duct gives rise to which structures?
SEED - Seminal vesicles, Epididymis, Ejaculatory duct, and Ductus deferens.
A woman keeps having miscarriages and the doctor suspects an anatomic defect. What may be the problem here?
Bicornuate uterus - from incomplete fusion of paramesonephric ducts
What factor is necessary to convert testosterone into DHT, allowing for development of male genitalia from an early stage?
What are patients with hypospadia at risk of developing?
Which side is more commonly affected when you have a varicocele and why?
Left, because left gonadal vein takes the Longest way. Flow is less continuous on left than on right because left spermatic vein enters left renal vein at 90 degree angel. Left venous pressure > right venous pressure
What key histological change occurs as you transition from the endocervix to the ectocervix/vagina? What is the most common area for cervical cancer?
Simple columnar epithelium to stratified squamous epithelium (non-keratinized)
Squamocolumnar junction (transformation zone)
What is the pathway of sperm during ejaculation?
What are the innervations for the male sexual response and how can erection be prolonged?
Point and Shoot - PANS for erection via pelvic nerve, SANS for emission via hypogastric nerve
Sildenafil and vardenafil inhibit cGMP breakdown, preserving smooth muscle relaxation and vasodilation. (NO stimulates increase in cGMP)
What problem may arise in the presence of a varicocele that may interfere with fertility in a male?
Varicocele will increase temperature in the scrotum and the temperature sensitive sertoli cells (responsible for supporting sperm synthesis) may decrease sperm production with high temp.
What state is an oocyte in just prior to ovulation? Prior to fertilization?
Primary oocyte held in prophase I until ovulation
Secondary oocyte held in Metaphase II until fertilization
What does Mittelschmerz refer to?
Transient mid-cycle ovulatory pain; associated with peritoneal irritation (e.g. follicular swelling/rupture, fallopian tube contraction). Mimics appendicitis.
Which compound can be detected 1 week after conception in blood and 2 weeks post conception in urine? How did it arise?
beta-HCG, released from syncytiotrophoblasts
For how long is the corpus luteum active during a pregnancy?
2nd and 3rd trimesters placenta synthesizes own estriol and progesterone, so corpus luteum degenerates
What constellation of symptoms are present during menopause?
Atrophy of Vagina
Coronary artery disease
Which medical conditions can lead to infertility as a result of Spermatozoon tail dysfunction?
A 30 y/o man presents to the infertility clinic with his wife. You find he has hypogonadism. On PE you find testicular atrophy, gynecomastia and female hair distribution. What are three causes that lead to this presentation?
Klinefelter Syndrome (male xxy)
1. Presence of inactivated X chromosome (Barr body)
2. Dysgenesis of sminiferous tubules --> dec inhibin --> incr FSH
3. Abnormal Leydig cell fxn --> decr. testosterone --> incr. LH--> incr. estrogen
A young woman presents to your infertility clinic. She is short in stature and has lymphedema in her feet and hands. She has amenorrhea, and very thorough physical exam reveals bicuspid aorta, preductal coarctation and a shield chest. What is the cause for her presentation and will it be possible for her to give birth?
Turner Syndrome (45 XO - complete monosomy; or 45, XO/46, XX - mosaicism)
decr estrogen --> incr LH and FSH
Pregnancy possible w/ oocyte donation, exogenous estradiol-17beta and progesterone
A middle aged male presents to the psychiatrist for antisocial behavioral problems. He is very tall and has severe acne. He states he is divorced and has two kids. What may be the cause for his problems?
Double Y male (XYY)
antisocial only in 1-2% of XYY
A serum sample reveals that a patient has high testosterone and low LH, what may be the cause? What if both are high? What if both are low? What if Test is low and LH is high?
1. Testosterone-secreting tumor or exogenous steroids
2. Defective androgen receptor
3. Hypogonadotropic Hypognoadism
4. Primary hypogonadism
What may be the reason for an XX female with ovaries who has male genitalia?
What about an XY male with testes but female or ambiguous genitalia?
1. Excessive inappropriate exposure to androgenic steroids during early gestation (congenital adrenal hyperplasia or mother gets increased androgen)
2. Androgen insensitivity syndrome
A 18 year old male presents to you with failure to complete puberty. He has anosmia and lab results show low sperm counts. Further blood tests reveal low GnRH, FSH, LH and testosterone. What may be the cause for his condition?
Defective migration of GnRH cells and formation of olfactory bulb
A 27 year old woman presents to your clinic to confirm a positive pregnancy test. She has minor abdominal swelling and very high beta-HCG levels. Ultrasound reveals a snow storm appearance with absence of fetal heart sounds. She also complained of vaginal bleeding and some vomiting. You measure a blood pressure of 150/86 and notice peripheral edema. What should you do next and why? What would you find following this step?
Hydatidiform Mole - complete mole in this case because of high betaHCG, preeclampsia, hyperemesis and US.
Dilation and curettage to remove, which would reveal a honeycombed or "clusters of grape" uterus. Methotrexate. 15-20% malignant trophoblastic disease (chorioCA) potential!!
What is a key difference in the composition of a complete vs. partial mole?
Partial is of 2 sperm and 1 egg. And contains fetal parts.
Complete does not, but it has complete villous edema and diffuse/circumferential trophoblastic proliferation around villi.
A pregnant woman presents with blood 160/90 mmHg. She has no proteinuria or end-organ damage and does not have pre-existing HTN. What would you treat her with?
Gestational HTN (preg induced)
Antihypertensives (alpha-methyldopa, labetalol, hydralazine, nifedipine). Deliver at 39 weeks
A pregnant woman presents in her 3rd trimester complaining of headaches and blurry vision. She has oliguria, BP is 174/96 mmHg, elevated AST/ALT and thrombocytopenia. She does have preexisting HTN and diabetes. What is the next step in her care?
Tx with antihypertensives and deliver at 34 weeks (37 weeks if it was mild case). IV magnesium sulfate to prevent seizure (if seizure it is Eclampsia which could lead to stroke, ARDS and death - DELIVER IMEEDIATELY)
What is HELLP syndrome? How would you treat?
Hemolysis, Elevated Liver enzymes, Low Platelets
-Preeclampsia w/ thrombotic microangiopathy involving liver
Tx: DELIVER IMMEDIATELY
A pregnant woman presents during her 3rd trimester with abrupt, painful vaginal bleeding, and she is in shock. She was diagnosed with preeclampsia a few weeks ago but neglected to take prescribed medication. She has a history of tobacco and cocaine use. What is the next step in her care?
Placental abruption (Partial, as bleeding is apparent; bleeding concealed in complete)
Tx: Immediate c-section
Immediately after giving birth a woman experiences massive vaginal bleeding and fails to deliver the placenta. She had a prior c-section and placenta previa with the previous pregnancy. What needs to be done next?
Placenta Accreta (attaches to myometrium WITHOUT penetrating)
Possible to remove with dilation and curettage, but hysterectomy needed if placenta penetrated myometrium.
What are the various ways that the placenta can attach to the uterine wall abnormally?
PLacenta accreta - attaches myometrium without penetration
Placenta increta - penetrates into myometrium
PLacenta percreta - penetrates (perforates) through myometrium into uterine serosa invading uterine wall. can result in placental attachment to rectum or bladder
A pregnant woman presents in 3rd trimester with vaginal building . She had a prior C-section and is set to deliver triplets. What needs to be done next?
Placenta previa - attachment to lower uterine segment.
C-section delivery to prevent cord compression
A woman presents with right lower quadrant abdominal pain. She has been trying to get pregnant for some time without much luck, and has already had an appendectomy for a previously ruptured appendix. She has a history of amenorrhea and salpingitis. What test should be done next?
US to confirm ectopic pregnancy w/ implantation of fetus in fallopian tube.
A 43 year old woman presents with post-coital vaginal bleeding. She lost her virginity at 13 and has had multiple sexual partners for most of her life. She is HIV+ as well. What test would you do next, and what would it most likely reveal? What was the cause of her condition?
Carcinoma in situ or invasive cervical CA from HPV
Pap smear: Koilocytic change (wrinkled "raisin" nucleus), nuclear atypia, and increased mitotic activity. Squamous cell CA
High Risk HPV infection at a young age (16, 18, 31, 33)
What is a major risk and complication of invasive cervical carcinoma?
Lateral invasion can block ureter --> Hydronephrosis --> post-renal failure
A 27 year old woman presents with fever, abnormal uterine bleeding and pelvic pain. She had a miscarriage a month ago. A biopsy of her endometrium would reveal plasma cells and lymphocytes. What should you treat her with?
Endometritis - inflammation of endometrium. retained products of conception or foreign body attract bacterial flora
Tx: Gentamicin + clindamycin, with or without ampicillin
A woman presents with pelvic pain that comes and goes every few weeks. She has bleeding and dysmenorrhea. She also experiences pain while deficating. Recent attempts to get pregnant have failed. On PE her uterus is normal in size. You find a lesion in her rectum and biopsy it, what would you see? What if you resected an affected ovary? How would you treat her?
Gunpowder lesions on rectum and Chocolate cyst (blood-filled) in ovary.
Tx: NSAIDs, oral contraceptive pill, progestins, GnRH agonist, surgery.
A woman presents with dysmenorrhea and menorrhagia. She has a uniformly enlarged, soft globular uterus. What does she have?
Adenomyosis - endometrial tissue into uterine myometrium
What are women with endometriosis at risk for?
Increased risk of carcinoma at site of lesion, especially if in the ovaries.
A post-menopausal 66 year old woman presents with vaginal bleeding. She has PCOS and took hormone replacement therapy in the past for anovulatory cycles. Further examination reveals complex architectural growth and cellular atypia. What is she at risk for?
MAJOR risk for ENDOMETRIAL CARCINOMA
What are the risks for Endometrial CA?
A patient with this presents at 77, what type of tumor would she have?
Prolonged estrogen use without progestins, obesity, diabetes, hypertension, nulliparity, late menopause
Sporadic type - cancer from atrophic lesion. Serous or papillary serous. very aggressive, caused by p53 mutation.
What is a benign smooth muscle tumor that increases in size with pregnancy, leads to miscarriage, and decreases in size after menopause? What would it look like?
Leiomyoma - It has whorl patterns of smooth muscles, with well demarcated borders. Multiple tumors.
True or false, a patient with leiomyoma is at increased risk for progression to malignancy?
FALSE, this does not progress to leiomyosarcoma which arises DE NOVO
What is the most common cause of infertility in women, and what would serum hormone levels reveal?
INcrease LH, FSH, testosterone and estrogen
LH>FSH by 3:1 ratio
What is the most common ovarian mass in young women and what may it be associated with?
Follicular Cyst - Hyperestrogenism and endometrial hyperplasia (unruptured Graafian follicle)
What function does the corpus luteum have and what may be a complication of its development?
Increased progesterone release to prepare endometrium to maintain a possible pregnancy.
Hemorrhagic cyst --> regresses spontaneously
A woman presents with multiple bilateral ovarian cysts. You detect increased gonadotropin stimulation and find this condition is associated with choriocarcinoma and moles. What may this patient have?
A 60 year old G0P0 woman with a history of PCOS presents with abdominal distension, bowl obstruction and pleural effusion. On physical exam you find bilateral adnexal masses. What is the most likely cause of this lesion and how can you monitor its progress?
Majority of Ovarian neoplasms in this age group are epithelial (cystadenocarcinoma) - malignant for this age group
Monitor progress by monitoring CA-125 (not good for screening)
What factors increase the risk for ovarian neoplasms? What decreases risk?
Risk INCR: advanced age, infertility, endometriosis, PCOS, genetic predisposition (BRCA1 BRCA2 mut, HNPCC, strong family history).
Risk DECR: previous pregnancy, history of breastfeeding, OCPs, tubal ligation.
What ovarian mass looks like a complex mass on ultrasound and presents with pelvic pain, dysmenorrhea and dyspareunia? What is this patient also at risk for?
15% have separate endometroid carcinoma in endotrium
What is the most common ovarian tumor in women 20-30 years old, that can present with pain secondary to ovarian enlargement/torsion, and hyperthyroidism (struma ovarii)? What are the components of this mass?
Mature cystic teratoma (dermoid cyst)
-Germ cell tumor with elements from all 3 germ layers (teeth, hair, sebum, thyroid tissue possible)
A woman presents with adnexal mass. Biopsy reveals solid tumor that is pale yellow-tan in color and looks encapsulated. H&E stain reveals "coffee bean" nuclei in a bladder shaped structure. What type of mass is this?
Brenner Tumor - benign
What is the classic triad seen in Meigs syndrome and what findings will you find on ovarian mass biopsy?
Triad of ovarian fibroma, ascites, and hydrothorax, w/ pulling sensation in groin.
Bundles of spindle shaped fibroblasts
Which drugs decrease Leydig cell stimulation by LH?
GnRH agonists - leuprolide, goserelin, nafarelin, histrelin
Which drugs decrease Leydig cell stimulation by LH?
GnRH agonists - leuprolide, goserelin, nafarelin, histrelin
Name a weak anti-androgen that decreases testosterone production in the Leydig cells and steroid production in the adrenals:
Which drug will decrease peripheral aromatization of androgen, and where is it used?
Anastrozole - aromatase inhibitor
postmenopausal women with breast cancer.