Repro Flashcards
What is the SHH gene responsible for? What can mutation cause?
- Anterior posterior patterning at limb buds
- Holoprosencephaly
What is the WNT7 gene responsible for?
Distal limb development
Role of fibroblast growth factor in development? Mutation?
Limb lengthening: mutation can cause achondroplasia
What do mutations in HOX genes cause?
Synpolydactyly: fingers /toes in wrong place
- Code for DNA binding TF
- Vitamin A dysregulates HOX in pregnancy
What is egg arrested in before fertilization?
Metaphase of meiosis II
What does the trophoblast become?
The placenta
Vitamin deficiency causing neural tube defects?
Folate
What do alar and basal plate give rise to?
Alar: sensory neurons (dorsal)
Basal: motor neurons (ventral)
When is embryo most susceptible to teratogens?
Embryonic period: weeks 3 - 8
When do heart and limb development begin?
Week 4: 4 chambers, 4 limbs
When does gender development begin?
Week ten
Derivatives of ectoderm and what do they become?
- Surface ectoderm: skin
- Neuroectoderm: Brain / spinal cord
- Neural crest: PNS
What are melanocytes derived from?
Neural crest
What does the mesoderm become?
- Muscle, bone, connective tissue, CV, lymphatics, blood, kidneys, spleen
What does endoderm become?
Gut, lungs, liver, pancreas, gallbladder, thyroid, parathyroid
What is agenesis?
Absent organ from absence of primordial tissue
What is aplasia?
Absent organ with present primordial tissue
Difference between deformation and malformation
Deform: extrinsic interruption after embryonic period
Malform: internal interruption during embryonic (3-8 weeks)
What do aminoglycosides cause?
Ototoxicity
What does cocaine cause?
Placental abruption
What does Li cause?
Ebstein anomaly: atrialization of right ventricle
Heparin or warfarin in pregnancy?
Heparin: does not cross placenta
Presentation of fetal alcohol syndrome?
- Small, widely spaced eyes
- Thin upper lip
- Smooth philtrum
* ***Caused by failure of cell migration
What does # chorions equal?
Number of placentas
Most common number of amnions / chorions in twins?
Monochorionic, diamniotic
What cells release Bhcg?
Syncytiotrophoblasts
What are the maternal and fetal components of placenta?
Maternal: decidua basalis
Fetal: Cytotrophoblasts/syncytiotrophoblasts
What does the allantois become?
Urachus: urine out belly button if does not close
What does the vitelline duct do?
Connect yolk sac to midgut lumen: poop out belly button if does not close
What doe the allantois and the umbilical arteries become?
Arteries: MediaL umbilical ligament
Allantois: Median umbilical ligament
What does 1st arch become?
Maxillary artery
What does 2nd arch become?
Stapedial and hyoid arteries
What does 3rd arch become?
Common and proximal internal carotid
What does fourth arch become?
Left: aortic arch
Right: Proximal right subclavian
What does 5th arch become?
Nothing
What does 6th arch become?
Ductus arteriosus and proximal pulmonary artery
What is a lump on side of neck that does not move when swallowing?
Branchial cleft cyst: from persistent cervical sinus derived from 2 - 4th cleft
What muscles does CN VII innervates?
Muscles of facial expression
What innervates muscles of mastication?
vIII
Pouches involved in digeorge syndrome?
III and IV as they develop into thyroids and parathyroids
Mutation seen in digeorge?
22q.11 deletion
What does 22q.11 deletion cause?
Digeorge
What results in cleft lip?
Failure of fusion of maxillary and medial nasal processes
What is the default genital pathway?
Female with persistence of paramesonephric / mullerian ducts
What do the mullerian ducts become?
Fallopian tubes, uterus, upper 1/3 vagina
What allows for male development?
- SRY gene on y chromosome producing testis determining factor
- Allows testis to develop creating sertoli and leydig cells
What secretes mullerian inhibitory factor?
Sertoli cells
What secretes testosterone?
Leydic cells to promote wolffian growth
What makes DHT?
5-alpha reductase makes this more potent testosterone from testosterone
What is DHT responsible for?
Prostate and male external structures
What do the urogenital folds become?
men: ventral shaft penis
women: labia minora
What is hypospadias?
Urethral opening on underside of penis
What is epispadias?
Urethral opening on top of penis
What happens when tunica vaginalis fails to fuse in man?
Risk of indirect hernia / hydrocele
Venous drainage of left/right ovary/testis?
Left: gonadal vein, renal vein, IVC
Right: Gonadal vein, IVC
Which side is varicocele more common on?
Left: left gonadal - > renal - > IVC
Cancer leading to varicocele?
RCC
Where do the ovaries and testis drain lymphatically?
Lumbar / Para aortic lymph nodes
Where does lymph from distal vagina, vulva, and scrotum drain?
Superficial inguinal nodes
What lymphatics do the clitoris and glans penis drain do?
Deep inguinal nodes
Where does proximal 2/3 vagina drain?
Obturator, external iliac, and hypogastric nodes
Consideration of cardinal ligament in hysterectomy?
Need to ligate cardinal ligament to prevent bleeding but need to be careful not to ligate ureter as it is extremely close
What vessels are in round ligament?
None
Pudendal nerve roots?
S2 - S4
What does the ureter pass posterior to?
Man: vas deferans
Woman: uterine artery
What do ovarian arteries arise from? Uterine?
Ovarian: directly from abdominal aorta
Uterine: Internal illiac
What needs to be ligated in hysterectomy as the suspensory ligament is cut?
Ovarian vessels
Where are ciliated columnar cells found in female tract?
Fallopian tubes
Are meta and dysplasia reversible?
Yes: neoplasia is NOT reversible
What of sperm?
"Seven UP" Seminiferous tubules Epididymis Vas def Ejaculatory ducts Nothing Urethra Penis
Where do sperm mature / are stored?
Epididymis: reach full maturity in vagina with help of secretions
What is ligated in male sterilization?
Vas def
What is diagnosis for present, non motile sperm?
Kartagener
- Situs inversus
- Chronic respiratory infx
- Infertility
- Mutation in dynein arm for flagella
What fracture damages posterior urethra?
Pelvic
Where does urine leak in urethral injury?
Retropubic space
What does NO release cause in penis?
- Increased cGMP relaxing smooth muscle
- Increases blood flow = erection
Role of phosphodiesterase inhibitors in erection?
Stop breakdown on cGMP allowing erection to persist
Where does spermatogenesis occur?
Seminiferous tubules - takes 9 weeks
Where are spermatogonia found?
Line seminiferous tubules maintaining gene pool
Function of sertoli cells?
- Inhibin and androgen binding protein
- Blood testis barrier
- Protect from autoimmune attack - Support and nourishment
- Mullerian inhibitory factor
Function of leydig cells?
- Testosterone production
What does inhibin do?
Release by sertoli stopping FSH secretion
What do FSH and LH stimulate in males?
LH: Leydig
FSH: Sertoli
Negative feedback of testosterone?
LH
Sertoli or leydig cells impacted by temperature?
- Sertoli: sperm count will drop
- Leydig cells produces normal testosterone with increased temp
What is inferior to spermatic artery?
Ureter
Where do ovarian vessels lie?
Suspensory ligament
Where do uterine vessels lie?
Cardinal ligament
Impact of LH in women?
Acts on theca converting cholesterol to testosterone via desmolase
Function of FSH in women?
On granulosa cells to convert androgen to estrogen via aromatose
Functions of progesterone?
- Increasing endometrial secretions / spiral artery development
- Decreased myometrial excitability
- Negative FSH / LH feedback
- Maintenance of pregnancy
Where are eggs arrested between birth and pregnancy?
Prophase of meiosis 1
Where are secondary oocytes arrested?
Metaphase II until fertilization
What does rising estrogen cause increase in?
LH surge causing ovulation
What divides follicular and luteal phase?
Ovulation
Length of luteal phase?
Always 14 days, follicular phase can vary
Hormones high in follicular and luteal phase?
Follicular: estrogen
Luteal: progesterone
Most common cause of irregular / heavy uterine bleeding?
Anovulation: unopposed estrogen continues to build up endometrium
What is happening with lactation during pregnancy?
- Prog and E2 are increasing breast growth however they inhibit prolactin
What regulates prolactin release from anterior pituitary?
Dopamine
Function of HCG?
Keep corpeus luteum functioning to secrete progesterone until placenta can create its own
Causes of excessively high HCG?
- Hydatidiform mole
- Choriocarcinoma
- Multiple gestations
What is a good apgar score?
> 7,
Which immunoglobulin can cross placenta?
IgG
- IgA is what is found in breast milk
Vitamin deficiency if exclusively breast fed?
D
FHS, LH, GNRH levels in menopause?
Elevated from loss of estrogen negative feedback
***FSH is higher than LH
What organs does DHT stimulate?
Penis, Scrotum, Prostate
- Testosterone responsible for internal organs
What does 5-a-reductase do?
Convert testosterone to DHT
What does finasteride do?
Inhibits 5-a-reductase
What do spermatids become?
Mature spermatozoa - vira spermiogenesis
What leads to condyloma acuminatum?
6 / 11
Which are the low / high risk HPVs?
High: 16, 18, 31, 33
Low: 6, 11
***Based on DNA sequencing
What is lichen sclerosis?
- Thinning of epidermis and fibrosis of dermis
- Presents with leukoplakia with parchment like skin
- Benign with small risk of SCC
What is lichen simplex chronicus?
- Hyperplasia of vulval epithelium
- Leukoplakia w/ thick leathery skin
- From chronic irritation
- No risk of cancer
2 etiologies of vulvar carcinoma?
- HPV - 16, 18, 31, 33 - younger females
2. Non HPV - lichen sclerosis - older females
What is extramammary paget’s?
- Erythematous, itchy ulcerated skin on vulva
- Carcinoma in situ with NO underlying carcinoma
- **In breast means there IS cancer
How to tell pagets from melanoma?
Paget’s: PAS +, Keratin +, S100 -
Melanoma: PAS - / Keratin - / S100 +
What is the vagina derived from?
Upper 2/3: Mullerian duct
Lower 1/3: urogenital sinus
What happens to vaginal lining in development?
Upper 2/3 from mullerian duct is originally columnar that is replaced by squamous migrating up from lower 1/3
What is adenosis? What is the risk?
- Persistence of columnar cells up upper 2/3 vagina
- Normally replaced by Squamous
- Increased risk from DES in utero
- Has increased risk of clear cell adenocarcinoma
What does DES lead to increased risk in?
- Adenosis progressing to clear cell adenocarcinoma
What is risk with DES in mother?
Breast cancer
Presentation of embryonal rhabdomyosarcoma?
- Bleeding grape like mass protruding from vagina or penis
- Usually seen
What is the following histology indicative of:
- Cytoplasmic cross striations
- Positive IHC staining for desmin and myogen
Rhabdomyoblast cells see in rhabdomyocarcoma
Where do upper and lower vagina drain to?
Upper 2/3: illiac nodes
Lower 1/3: Inguinal nodes
Mutations involved in high risk HPV?
E6: knocks out p53
E7: knocks out retinoblastoma
What does P53 do?
- Regulate G1 - S phase in cell cycle
- Makes sure any damage is repaired before progress is allowed
What happens when p53 doesnt want cell to progress?
- Calls in Bax
- Bax knocks out BLC2 which was stabilizing mitochondrial membrane keeping cytochrome C inside
- Cytochrome C activates apoptosis killing cell
What does RB do?
- Holds E2F: when RB is phosphorylated it releases it
allowing cell cycle to progress
Difference between CIS and dysplasia?
CIS is not reversible and will soon invade
Risk factors for cervical carcinoma?
- HPV: most important
- Smoking
- Immunodeficiency: aids defining illness
What types of cancer does HPV cause?
- SCC
2. Adenocarcinoma
Where does cervical cancer invade?
Through anterior uterine wall into bladder causing hydronephrosis
What is next step after abnormal pap?
Confirmatory colposcopy and biopsy
2 limitations of pap?
- Does Not screen for adenocarcinoma
2. Not effective if you dont wipe transformation zone
What does HPV vaccination cover?
- 6, 11, 16, 18
- Lasts 5 years
- Still need paps
Hormonal impact on endometrium?
Grows with estrogen, prepares with progesterone, sheds with removal of P
What is asherman syndrome?
- Secondary amenorrhea from loss of basalis and scarring
- Usually from over aggressive D and C