Reproductive Flashcards
CNS development
SONIC HEDGEHOG GENE
Mutation results in holoprosencephaly
Gene produced at apical ectodermal ridge
Organization along dorsal-ventral axis
WNT-7 GENE
Gene produced at apical ectodermal ridge
Stimulates underlying mesoderm (lengthening)
FGF GENE
Gene for segmental craniocaudal organization
Codes for transcription factors
HOMEOBOX GENES
Mutation results in appendages in wrong locations
Timing of hCG production and implantation of blastocyst
note: hcG levels peak at around 10 weeks . Are produced by a developing blastocyst and later the placental syncytiotrophoblast
WEEK 1
Timing of bilaminar disc - epiblast and hypoblast
WEEK 2
Timing of granulation and trilaminar disc:
Epiblast forms primitive streak (endoderm, mesoderm, ectoderm)
Midline mesoderm becomes notochord
Overlying ectoderm becomes neural plate
WEEK 3
Neuroectoderm forms neural tube
Organogenesis begins
Note - Very susceptible to teratogens (before all-or-none)
WEEK 3-8
Timing of... Heart begins to beat TVUS detects heart Fetal movement begins Genitalia become M/F
4 weeks
6 weeks
8 weeks
10 weeks
Derivatives of surface ectoderm
Adenohypophysis (Rathke pouch) Epidermis Salivary, sweat, and mammary glands Anal canal below pectinate line Oral cavity epithelium Olfactory epithelium Auditory sensory organs Lens
Derivatives of neuroectoderm
Brain Spinal cord Neurohypophysis Pineal gland Retina
Derivatives of neural crest
PNS Pia/Arachnoid Cranial nerves Skull bones Odontoblasts Melanocytes Chromaffin cells (adrenal medulla) Parafollicular (C) cells Aorticopulmonary septum Endocardial cushions
Derivatives of mesoderm
Dermis Muscle, bone, and connective tissue CV structures, lymphatics, and blood Serous linings Spleen Kidneys Ureters Adrenal cortex Upper vagina Testes and Ovaries Notochord (nucleus pulposus)
Note - Defects result in VACTERL (vertebral, anal, cardiac, TE fistula, renal, limb) defects
Derivatives of endoderm
Gut tube epithelium Lungs Thyroid Thymus and Parathyroid Eustachian tube Stomach Liver Gallbladder Pancreas Bladder and Urethra Lower vagina
Difference between agenesis and aplasia
Agenesis - Absent primordial tissue
Aplasia - Primordial tissue present
Difference between deformation and malformation
Deformation - Extrinsic disruption after embryonic period
Malformation - Intrinsic disruption during embryonic period (weeks 3-8)
Teratogenic effect of alkylating agents
Absence of digits
Teratogenic effect of Methimazole
Aplasia cutis congenita
Teratogenic effect of Tetracyclines
Discolored teeth
Inhibited bone growth
Teratogenic effect of Thalidomide
Limb defects
Teratogenic effect of Warfarin
Bone deformities
Fetal hemorrhage
Ophthalmologic abnormalities
Note - Use Heparin instead
Teratogenic effect of cocaine, smoking
Note - Mechanism is vasoconstriction
Low birth weight
Preterm birth
IUGR
Placental abruption
Note - Smoking also increases risk of SIDS
Teratogenic effects of maternal diabetes
Macrosomia
Caudal regression syndrome
Congenital heart defects
Neural tube defects
Note - Caudal regression syndrome presents with flaccid paralysis, limb contractures, anal atresia, and syringomyelia
Teratogenic effect of methylmercury - found in fish
Neurotoxicity
Teratogenic effect of X-rays
Microcephaly
Intellectual disability
Mechanism of fetal alcohol syndrome
Failure of cell migration
Note - Most severe form can present with heart-lung fistulas and holoprosencephaly
Timing of cleavage for twins with... Dichorionic diamniotic Monochorionic diamniotic Monochorionic monoamniotic Conjoined
Before Morula (0-4 days)
Before Blastocyst (4-8 days)
Before embryonic disc (8-12 days)
> 13 days
Function of fetal placental component…
Cytotrophoblasts
Syncytiotrophoblasts
Inner layer - Produces cells
Outer layer - Produces hormones (e.g. b-hCG)
Note - Fetal component of placenta lacks MHCI to prevent attack by maternal immune system
Structure of maternal component of placenta
Decidua basalis contains maternal blood from endometrial vessels in lacunae around chorionic villi
Embryologic origin of umbilical arteries and umbilical vein
Allantois - Surrounding fluid is Wharton jelly
Note - Single artery associated with congenital and chromosomal abnormalities
Origin and function of urachus - 3rd week
Connects fetal bladder to umbilicus - derived from urogenital sinus (allantois)
Origin and function of vitelline duct (omphalomesenteric duct) - 7th week
Connects yolk sac to midgut lumen
Note - Failure to close forms vitelline fistula leading to meconium discharge from umbilicus
Location of looping of recurrent laryngeals
Right recurrent - Around right subclavian
Left recurrent - Distal to ductus arteriosus
Embryologic origin of branchial clefts, arches, and pouches
Cleft - Ectoderm
Arch - Mesoderm (muscle, arteries) and Neural crest (cartilage)
Pouch - Endoderm
1st branchial arch cartilage, muscle, and nerve
Note - Used for mastication
Cartilage:
Maxillary and Mandibular processes
Malleus and Incus
Muscle: Muscles of mastication (masseter, temporalis, pterygoid) Mylohyoid Anterior belly of Digastric Tensor tympani Tensor veli palatini
Nerve:
CN V2 and V3
2nd branchial arch cartilage, muscle, and nerve
Note - Used for facial expression
Cartilage: Styloid Stylohyoid ligament Lesser horn of hyoid Stapes
Muscle: Muscles of facial expression Stylohyoid Platysma Posterior belly of Digastric Stapedius
Nerve:
CN VII
Note - Auditory volume modulation by Stapedius (CN VII)
3rd branchial arch cartilage, muscle, and nerve
Note - Used for swallowing
Cartilage:
Greater horn of hyoid
Muscle:
Stylopharyngeus
Nerve:
CN IX
4th-6th branchial arch, cartilage, muscle, and nerve
Note - Used for swallowing and speaking
Cartilage: Arytenoid Cricoid Corniculate Cuneiform Thyroid
Muscle:
Levator veli palatini
Pharyngeal constrictors
Intrinsic laryngeal muscles
Nerve:
4th - CN X superior laryngeal branch (swallow)
6th - CN X recurrent laryngeal branch (speak)
Micrognathia
Glossoptosis
Cleft palate
Airway obstruction
PIERRE ROBIN SEQUENCE
Mandibular hypoplasia
Facial abnormalities
TREACHER COLLINS SYNDROME
Neural crest dysfunction
Branchial pouch derivatives
1st - Middle ear, Eustachian tube, Mastoid air cells
2nd - Palatine tonsils
3rd - Inferior parathyroid, Thymus
4th - Superior parathyroid, Ultimobranchial body (parafollicular C cells)
Failure of the left or right maxillary process to fuse with the intermaxillary segment
Intermaxillary segment formed by fusion of medial nasal prominence - Failure to fuse is associated with severe midline defect
CLEFT LIP
Note - Cleft palate is failure of the secondary palate to fuse together, or to fuse with the primary palate
Mechanism of female genital development
Mesonephric duct degenerates
Paramesonephric (Mullerian) duct develops
Forms fallopian tubes, uterus, and upper vagina
In males remnant forms appendix testis
Note - Lower portion of vagina from urogenital sinus
Primary amenorrhea (hypoplastic uterus) Fully developed secondary characteristics (ovaries)
Note - Increased risk of unilateral renal agenesis
MULLERIAN AGENESIS (MAYER-ROKITANSKY-KUSTER-HAUSER SYNDROME)
Mechanism of male genital development
SRY on Y chromosome produces TDF
Testes develop
Sertoli cells secrete MiF
Leydig cells secrete Testosterone
Testosterone develops mesonephric (Wolffian) ducts
Forms seminal vesicles, Epididymis, Ejaculatory duct, Ductus deferens (not Prostate)
In females remnant forms Gartner’s duct
Note - External genitalia/Prostate (Genital tubercle, Urogenital sinus) require DHT (5a-reductase)
Development of both male and female internal genitalia, and male external genitalia
No Sertoli cells or lack of MiF
Double uterus, vagina, and cervix
Complete failure of Mullerian duct fusion
Note - Partial failure results in Bicornuate uterus
Male and female derivatives of... Genital tubercle Urogenital sinus Urogenital folds Labioscrotal swelling
Glans penis/Corpus or Glans clitoris/Vestibular bulbs
Bulbourethral glands/Prostate or Bartholin/Skene glands
Penile urethra or Labia minora
Scortum or Labia
Note - Bartholin glands are Greater vestibular glands, and Skene’s glands are urethral/paraurethral glands
Mechanism of hypospadia
Note - Associated with inguinal hernias and cryptorchidism
Failure of urethral folds to fuse
-can cause increased UTI and sterility
Mechanism of epispadias
Note - Associated with bladder exstrophy
Faulty positioning of genital tubercle
Male and female derivatives of…
Gubernaculum - fibrous tissue
Processus vaginalis - invaginated peritoneum
Anchors testis to scrotum or ovarian/round ligaments
Tunica vaingalis or obliterated
Lymphatic drainage of…
Ovaries, Testes
Uterus, Cervix, Superior bladder
Prostate, Penis, Cervix, Proximal vagina, Inferior bladder
Vulva, Scrotum, Distal anus, Distal vagina
Glans penis
Para-aortic (where testicular artery arises) External iliac Internal iliac Superficial inguinal Deep inguinal
Structures with in…
Infundibulopelvic (suspensory) ligament
Cardinal ligament (cervix)
Round ligament (fundus to labia majora)
Ovarian vessels/ovarian nerve plexus (ovarian torsion)
Uterine vessels
Sampson’s artery
Epithelial histology of fallopian tube and ovary
Fallopian - Simple columnar with cilia
Ovary - Simple cuboidal
Note - No cilia in uterus
Path of sperm during ejaculation
Seminiferous tubules Rete testis Efferent ductules Epididymis Vas deferens Ejaculatory duct Urethra Penis
Note - Seminal vesicle joins ejaculatory duct in prostate, and Cowper’s (bulbourethral) joins after prostate
Difference between presentation of posterior (membranous) and anterior (penile) urethral injury
Posterior - Pelvic fracture causing urine to leak into retropubic space between pubis and bladder
Anterior - Perineal straddle injury causing urine to leak beneath Buck’s fascia or through it into perineal space (scrotum, in front of pubis)
Innervation of erection, emission, and ejaculation
Erection - Pelvic nerve (parasympathetic)
Emission - Hypogastric (sympathetic)
Ejactulation - Pudendal (somatic)
Functions and regulation of Sertoli cells - line inside of seminiferous tubules
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With FSH…
Regulate spermatogenesis
Support and nourish spermatozoa
Tight junctions form blood-testis barrier
Secrete androgen binding protein (maintain local levels)
Secrete Inhibin B to feedback inhibit FSH
Secrete MiF
Convert testosterone and androstenedione to estrogen
Note - Increased temperature decreases spermatogenesis (and inhibin production)
Function and regulation of Leydig cells - interstitium between seminiferous tubules
With LH…
Secretes testosterone
Note - Temperature independent
Relative potency of estrogens (greatest to least)
17b-Estradiol (ovary)
Estrone (adipose)
Estriol (placenta)
Note - Estradiol/Estrone increase 50x in pregnancy, while Estriol (fetal well being) increases 1000x
Metabolic effects of estrogen
Stimulates PRL
Stimulates SHBG
Stimulates HDL
Inhibits LDL
Note - Also inhibits Osteoclasts
Mechanism of estrogen production in granulosa cells
Pulsatile GnRH
LH activates Desmolase
Convert Cholesterol to Androgen
Androgen moves from Theca interna to Granulosa
Aromatase (under FSH) converts Androgen to Estrogen
Note - Ovary can also produce Androstenedione (P-450) which can be converted to Estrone
Timing of oogenesis
Primary oocyte arrested in prophase I until ovulation Secondary oocyte (haploid) arrested in metaphase II until fertilization If fertilization does not occur within 1 day the oocyte degenerates
Mechanism of ovulation and menstruation
Note - Luteal phase is always 14 days after ovulation
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Follicular phase:
Developing follicle stimulates GnRH release
Estrogen leads to proliferation of endometrium (tubular glands)
Estrogen switches to positive feedback of LH and FSH
LH surge
Rupture of follicle and ovulation
Luteal phase: Corpus luteum (theca-lutein) begins producing Progesterone (major) and Estrogen (minor) - Progesterone maintains endometrium (coiled glands)
Menstruation:
Corpus luteum regresses and endometrium sheds
Note - Increased temperature after ovulation is due to increase in Progesterone
Appendicitis-like pain associated with follicular swelling/rupture, or fallopian tube contraction
MITTELSCHMERZ
Definition of oligomenorrhea and polymenorrhea
Oligo - > 35 day cycle
Poly - < 21 day cycle
Menorrhagia (heavy) and Metrorrhagia (frequent, irregular)
Menometrorrhagia
Most frequent site of fertilization
Ampulla of fallopian tube
Placental hormone secretion during pregnancy
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b-hCG rises until 14 days then drops
17-OH progesterone rises in first trimester then declines
hPL rises throughout pregnancy in proportion ot fetal mass
CRH rises sharply around week 28
Note - b-hCG detected in serum at 1 week and on pregnancy tests at 2 weeks
Note - Decreased Estriol levels indicate placental abnormalities/FGR
Gestational age vs Embryonic age
Gestational - Last menstrual period
Embryonic - Gestational - 2
Physiological adaptations during pregnancy... CO Preload (BV) Afterload (SVR) HR RR Plasma volume RBC Viscosity Coagulability
Increased Increased Decreased Increased Increased Markedly increased Increased Decreased Increased
Note - Increase in plasma volume is greater than increased in RBC leading to anemia
Function of b-hCG
Secreted by syncytiotrophoblasts to maintain corpus luteum and progesterone production - eventually placenta is able to make its own progesterone and estrogen and b-hCG decreases
Effects of Progesterone during pregnancy
note: hCG maintains the corpus luteum during the first trimester of pregnancy. A deficiency of hCG allows progesterone to drop and increasing the risk of miscarriage
Decreased myometrial excitability Production of thick cervical mucus Inhibition of FSH, LH Decreased Estrogen receptor expression Fall after delivery disinhibits Prolactin
Note - Estrogen induces Prolactin