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Reproductive pathophysiology > Embryo/Anatomy/Physiology > Flashcards

Embryo/Anatomy/Physiology Flashcards

1
Q

Sonic hedgehog gene (Shh)

A

produced at base of limbs in zone of polarizing activity

  • patterning along anterior posterior axis and involved in CNS development
  • mutation can cause holoprosencephaly
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2
Q

Wnt-7 gene

A

produced at apical ectodermal ridge (distal end of developing limb)

-necessary for organizing along dorsal-ventral axis

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3
Q

FGF gene

A

produced at apical ectodermal ridge (distal end of developing limb)

-stimulates mitosis of mesoderm to lengthen limbs

Achondroplasia is AD disorder of FGF-3 -> shortened limbs but normal sized head and trunk

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4
Q

Homeobox (Hox) genes

A

Segmental organization in craniocaudal direction; codes for transcription factors

Hox mutations -> appendages in wrong places (ex polysyndactyly)

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5
Q

When does hCG secretion begin?

A

implantation of blastocyst ~day 6 (detect via urine/blood 8-14 days after implantation)

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6
Q

What is the acrosome and flagellum of the sperm derived from?

A

acrosome derived from golgi apparatus

flagellum derived from centriole

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7
Q

When does the embryo become a bilaminar disc?

A

2 weeks; epiblast, hypoblast and amniotic cavity and yolk sac form

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8
Q

When do all 3 layers of the embryo form?

A

Trilaminar disc at 3 weeks

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9
Q

What period is most susceptible to teratogens?

A

weeks 3-8

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10
Q

What occurs at week 4 of embryogenesis?

A
  • heart beings to beat
  • upper and lower limb buds being to form
  • neural tube closes
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11
Q

At what week does the fetus have F/M genitalia characteristics? When can it be detected by ultrasounds?

A

week 10, but week 16-18 by ultrasound

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12
Q

Embryologic derivates of surface ectoderm

A
  • Epidermis
  • Adenohypophysis (from Rathke pouch)
  • Lens of eye
  • Epithelial linings of oral cavity, sensory organs of ear and olfactory epithelium
  • Epidermis
  • Anal canal BELOW pectinate line
  • Parotid, sweat and mammary glands
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13
Q

Embryologic derivatives of neuroectoderm

A

(think CNS)

  • Brain (neurohypophysis, CNS neurons, oligodendrocytes, astrocytes, ependymal cells, pineal gland)
  • Retina
  • Optic nerve
  • Spinal cord
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14
Q

Embryologic derivatives of neural crest

A

(think PNS and nearby non-neural structures)

  • PNS (DRG, CNs, celiac ganglion, Schwann cells, ANS)
  • melanocytes
  • Chromaffin cells of adrenal medulla
  • Parafollicular (C) cells of thyroid
  • Pia and arachnoid
  • Bones of skull, odontoblasts
  • Aorticopulmonary septum
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15
Q

Embryologic derivatives of Mesoderm

A
  • Muscle, bone, connective tissue
  • Serous linings of body cavities (peritoneum),
  • Spleen (from foregut mesentery)
  • Cardiovascular structures
  • Lymphatics
  • Blood
  • Wall of gut tube
  • Vagina
  • Kidneys
  • Adrenal cortex
  • Dermis
  • Testes and ovaries
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16
Q

Embryologic derivatives of Endoderm

A
  • Gut tube epithelium (including anal canal ABOVE pectinate line)
  • most of urethra (derived from urogenital sinus)
  • Luminal epithelial derivatives (lungs, liver, gallbladder, pancreas, eustachian tube, thymus, parathyroid, thyroid follicular cells)
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17
Q

Agenesis vs aplasia

A

Agenesis - absent organ due to absent primordial tissue

Aplasia - absent organ despite presence of primordial tissue (DiGeorge thymic aplasia)

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18
Q

Hypoplasia

A

incomplete organ development, primordial tissue present

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19
Q

Deformation vs disruption vs malformation

A

Disruption- secondary breakdown of previously normal tissue/structure

Deformation- EXTRINSIC deformation; AFTER embryonic period (weeks3-8); example compression

Malformation- INTRINSIC deformation; DURING embryonic period

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20
Q

Sequence error

A

multiple abnormalities arise from single embryologic event

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21
Q

Dizygotic twins

A

twins from 2 eggs fertilized by 2 different sperm

dichorionic and diamniotic

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22
Q

Monozygotic twins, cleavage at 0-4days

A

~25% of monozygotic twins (cleavage before implantation)

can have fused placenta or separate placenta - dichorionic and diamniotic

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23
Q

Monozygotic twins, cleavage 4-8days

A

~75% of monozygotic twins (cleavage just before implantation)

monochorionic, diamniotic

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24
Q

Monozygotic twins cleavage 8-12 days

A
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25
Q

Conjoined twins

A

Cleavage at >13 days of monozygotic twins, embryonic disc already formed at time of cleavage

monochorionic, monoamniotic

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26
Q

What are the fetal and maternal components of the placenta and what are their functions?

A

Fetal:

  • cytotrophoblast (inner layer of chorionic villi)
  • syncytiotrophoblast (outer layer) secretes hCG, invades uterine wall; lacks MHC I to prevent attack by maternal autoimmune system
Maternal:
Decidua basalis (derived from endometrium), maternal blood in lacunae
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27
Q

Umbilical arteries

A

return deoxygenated blood from fetal internal iliac arteries to mom

Regresses into mediaL ligaments

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28
Q

Umbilical vein

A

supplies oxygenated blood from placenta to fetus, drains into IVC via liver or ductus venosus

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29
Q

Wharton jelly

A

has stem cells, fibroblasts and macrophages. surrounds vessels in umbilical cord to provide protection and support

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30
Q

Urachus

A

3rd week yolk sac forms allantois and extends into urogenital sinus

Allantois becomes urachus (duct btwn fetal bladder and yolk sac)

Regresses into mediaN ligament

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31
Q

Patent urachus

A

total failure of urachus to obliterate -> urine from umbilicus

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32
Q

Urachal cyst

A

partial failure of urachus to obliterate, fluid cavity lined with uroepithelium btwn umbilicus and bladder

Can lead to infection, adenocarcinoma

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33
Q

Vesicourachal diverticulum

A

slight failure of urachus to obliterate -> outpouching of bladder

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34
Q

Vitelline duct

A

connects yolk sac to midgut lumen and obliterates in the 7th week (omphalo-mesenteric duct)

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35
Q

Vitelline fistula

A

vitelline duct fails to close -> meconium discharge from umbilicus

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36
Q

Meckel diverticulum

A

partial closure of vitelline duct, patent portion attached to ileum (true diverticulum)

may have heterotropic gastric and/or pancreatic tissue -> melena, hematochezia, abdominal pain

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37
Q

1st aortic arch derivatives

A

part of maxillary artery (branch of external carotid)

*middle meningeal artery branches off maxillary (epidermal hematoma)

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38
Q

2nd aortic arch derivatives

A
  • Stapedial artery (supplies stapedius muscle, damage causes hyperacussis)
  • Hyoid artery
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39
Q

3rd aortic arch derivatives

A

Common carotid artery and proximal part of internal carotid artery

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40
Q

4th aortic arch derivatives

A

L- aortic arch
R- proximal part of R subclavian artery (note R. recurrent laryngeal nerve loops nearby)

(supplies limbs)

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41
Q

6th aortic arch derivatives

A

Proximal part of pulmonary arteries and on left ductus arteriosus (if patent ductus arteriosus machine-like murmur)

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42
Q

What is the pharyngeal/branchial apparatus composed of?

A

Branchial clefts/grooves: derived from ectoderm

Branchial arches: derived from mesoderm (muscles,arteries) and neural crest (bones, cartilage)

Branchial pouches: derived from endoderm

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43
Q

Branchial cleft derivatives

A

1st cleft -> external auditory meatus
2nd-4th clefts-> temporary cervical sinuses, which are obliterated *note: persistent cervical sinus -> branchial cleft cyst w/in lateral neck

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44
Q

1st branchial arch derivatives- cartilage

A

Meckel cartilage: Mandible, Malleus, incus, sphenoMandibular ligament

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45
Q

1st branchial arch derivatives- muscles

A

Muscles of Mastication (temporalis, Masseter, lateral and Medial pterygoids), Mylohyoid, anterior belly of digastric, tensor tympani, tensor veli palatini

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46
Q

1st branchial arch derivatives- nerves

A

CN V2 (maxillary) and V3 (mandibular)

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47
Q

1st branchial arch derivatives- abnormalities

A

Treacher collins syndrome- 1st arch neural crest fails to migrate -> mandibular hypoplasia, facial abnormalities

48
Q

2nd branchial arch derivatives- cartilage

A

Reichert cartilage: Stapes, Styloid process, lesser horn of hyoid, Stylohyoid ligament

49
Q

2nd branchial arch derivatives- muscles

A

Muscles of facial expression, Stapedius*, Stylohyoid, platySma, posterior belly of digastric

50
Q

2nd branchial arch derivatives- nerves

A

CN VII (facial expression)

51
Q

2nd branchial arch derivatives- abnormalities

A

Congenital pharyngocutaneous fistula - persistence of cleft and pouch -> fistula btwn tonsillar area and lateral neck

52
Q

3rd branchial arch derivatives- cartilage, muscles, nerves

A

cartilage: greater horn of hyoid
muscles: Stylopharyngeus
nerve: CN IX (glossopharyngeal nerve)

53
Q

4th-6th branchial arch derivatives - cartilages

A

thyroid, cricoid, arytenoids, corniculate, cuneiform

54
Q

4th-6th branchial arch derivatives - muscles

A

4th arch: most pharyngeal constrictors; cricothyroid, levator veli palatini

6th arch: all intrinsic muscles of larynx EXCEPT cricothyroid

55
Q

4th-6th branchial arch derivatives - nerves

A

4th arch: CN X (superior laryngeal branch) -> swallowing

6th arch: CN X (recurrent laryngeal branch)-> speaking

56
Q

Which arches form posterior 1/3 of tongue?

A

arches 3 and 4

57
Q

1st pouch derivatives

A

Middle ear cavity, eustachian tube, mastoid air cells

-contributes to endoderm-lined structures of ear

58
Q

2nd pouch derivatives

A

Epithelial lining of palatine tonsil

59
Q

3rd pouch derivatives

A

dorsal wings- inferior parathyroids
ventral wings- thymus

note: 3rd pouch structures end up below 4th pouch structures

60
Q

4th pouch derivatives

A

dorsal wings- superior parathryoids

61
Q

Cleft lip

A

failure of fusion of maxillary and medial nasal processes (formation of primary palate)

62
Q

Cleft palate

A

failure of fusion of 2 lateral palatine processes OR failure of fusion of lateral palatine processes with nasal septum and/or median palatine process (formation of secondary palate)

63
Q

Paramesonephric (Mullerian) duct

A

Default, develops into F internal structures

  • fallopian tubes
  • uterus
  • upper 2/3 of vagina (lower 1/3 derived from urogenital sinus)
64
Q

Mullerian agenesis

A

primary amenorrhea due to lack of uterine development in females w fully developed secondary sexual characteristics (functional ovaries)

65
Q

Mesonephric (Wolffian) duct

A

Develops into internal male structures (except prostate)

-seminal vesicles, epididymis, ejaculatory duct, ductus deferens

Female - remnant becomes Gartner duct

66
Q

SRY gene

A

SRY on Y chromosome -> testis-determining factor -> testes development

  • > sertoli cells -> Mullerian inhibitory factor-> degeneration of Mullerian duct (female internal genitalia)
  • > Leydig cells -> testosterone -> stimulates Wolffian duct -> male internal genitalia (minus prostate)
67
Q

Septate uterus

A

incomplete resorption of septum, decreased fertility

68
Q

Bicornuate uterus

A

Incomplete fusion of Mullerian ducts -> increases risk of pregnancy complications

69
Q

Uterus didelphys

A

Complete failure of Mullerian ducts to fuse -> 2 uteruses, vaginas and cervixes

pregnancy possible

70
Q

What are the M/F homologs that are derived from the genital tubercle?

A

M (DHT)/F (Estrogen)
Glans penis/ Glans clitoris
Corpus cavernosum and spongiosum/ vestibular bulbs

71
Q

What are the M/F homologs that are derived from the urogenital sinus?

A

M (DHT)/F (Estrogen)

Bulbourethral glans (of Cowper)/Greater vestibular glans (of Bartholin)

Prostate gland/Urethral and paraurethral glands (of Skene)

72
Q

What are the M/F homologs that are derived from the urogenital folds?

A

M (DHT)/F (Estrogen)

Ventral shaft of penis (penile urethra)/ labia minora

73
Q

What are the M/F homologs that are derived from the labioscrotal swelling?

A

M (DHT)/F (Estrogen)

Scrotum/ Labia majora

74
Q

What are the male and female remnants of the gubernaculum (band of fibrous tissue)

A

male: anchors testes w/in scrotum
female: ovarian ligament+ round ligament of uterus

75
Q

What are the male and female remnants of the processus vaginalis (evagination of peritoneum)

A

Male: tunica vaginalis (if patent can cause hydrocele)
Female: obliterated

76
Q

Ovarian/Testicular venous drainage

A

L ovary/testes -> L ovarian/testicular vein -> L renal vein -> IVC

R ovary/testes -> R ovarian/testicular vein - IVC

77
Q

Gonadal lymphatic drainage

A

Ovaries/testes -> para-aortic (retroperitoneal) LNs

Distal vagina/vulva/scrotum -> superficial inguinal nodes

Proximal 2/3 of vagina/uterus -> obturator, extermal iliac and hypogastric nodes

78
Q

Infundibulopelvic ligament (suspensory ligament of the ovary)- what does it connect and what structures does it contain?

A

Connects ovaries to lateral pelvic wall

Structures contained: ovarian vessels (come from abdominal aorta)

79
Q

Cardinal ligament- what does it connect and what structures does it contain?

A

Connects cervix to side wall of pelvis

Structures contained: uterine vessels (from internal iliac vessels)

note risk of injuring ureter during ligation of uterine vessels in hysterectomy since ureter passes under

80
Q

Round ligament of the uterus- what does it connect and what structures does it contain?

A

Connects uterine fundus to labia majora

Structures contained: none

Derivative of gubernaculum, travels through round inguinal canal; above artery of Sampson (anastamosis of uterine and ovarian artery)

81
Q

Broad ligament- what does it connect and what structures does it contain?

A

Connects uterus, fallopian tubes, and ovaries to pelvic side wall

Structures contained: ovaries, fallopian tubes, round ligaments of uterus

Comprised of mesosalpinx, mesometrium and mesovarium

82
Q

Ovarian ligament- what does it connect and what structures does it contain?

A

Connects medial pole of ovary to lateral uterus

Structures contained: none

Derived from gubernaculum

83
Q

How does the uterus epithelium change from the follicular phase to the luteal phase?

A

follicular phase: columnar epithelium with long tubular glands

luteal phase: columnar epithelium with coiled glands

84
Q

What type of epithelium lines the vagina, ectocervix, transformation zone, endocervix, uterus, fallopian tube, and ovarian outer surface

A

Vagina and ectocervix: nonkeratinized stratified squamous epithelium

Transformation zone: squamocolumnar junction

Endocervix and uterus: simple columnar epithelium

Fallopian tube: simple columnar epithelium, ciliated

Ovary (outer surface): simple cuboidal epithelium

85
Q

When does the uterus elevate during the female sexual response?

A

excitement phase

86
Q

What is the pathway of sperm during ejaculation?

A 
Seminiferous tubules
Epididymis
Vas deferens
Ejaculation duct
Urethra
Penis
87
Q

Where does maturation of sperm occur?

A

Majority of maturation takes place in epididymis, final maturation takes place in vagina

88
Q

What is the autonomic innervation of erection, emission, ejaculation?

A

Erection: Parasympathetic NS (pelvic nerve)
-> NO increases cGMP (+ with PDE5 inhibitors like sildenafil) -> smooth muscle relaxation -> vasodilation of corpus spongiosum
(NE->increase intracellular Ca2+ -> vasoconstriction -> antierectile)

Emission- Sympathetic NS (hypogastric nerve)
-> just before ejaculation; sperm released from epididymis

Ejaculation- visceral and somatic nerves (pudendal nerve)

89
Q

Spermatogonia (germ cells)

A

maintain germ pool and produce primary spermatocytes -> secondary spermatocytes -> spermatids -> spermatozoon

90
Q

Sertoli cells (non-germ cells)

A

Line seminiferous tubules

  • secrete inhibin -> inhibits FSH
  • Secretes androgen binding protein -> maintain LOCAL levels of testosterone
  • Tight jxn btwn cells creates blood-testes barrier -> isolates gametes from immune system
  • support spermatozoa
  • regulate spermatogenesis
  • produce MIF
  • Temperature sensitive: less sperm and inhibin production with increased temps (varicocele, cryptorchidism)

Converts testosterone and androstenedione to estrogen via aromatase

(homolog of female granulosa cells)

91
Q

Leydig cells

A

Located in interstitium

secretes testosterone in presence of LH, unaffected by temperature

(homolog of female theca cells)

92
Q

What are sources of estrogen?

A 
Ovary (17beta-estradiol)
Placenta (estriol)
Adipose tissue (estrone via aromatization)
93
Q

What are the functions of estrogen?

A
  • Development of female genitalia and breast, fat distribution
  • Growth of follicle, endometrial proliferation, increases myometrial excitability
  • upregulates estrogen, LH and progesterone receptors
  • feedback inhibition of FSH and LH
  • LH surge
  • stimulates prolactin secretion
  • increase transport proteins, sex-hormone binding globulin (SHBG)
  • increases HDL and decreases LDL *cardio protective
  • closing of epiphyseal plates
94
Q

How does estrogen change in pregnancy?

A

50x increase in estradiol and estrone

1000x increase in estriol

95
Q

How does pulsatility of GnRH affect LH and FSH release?

A

low amplitude, high frequency -> stimulates FSH

high amplitude, low frequency -> stimulates LH

96
Q

What enzymes in which cells convert cholesterol to androgens to estrogens?

A

LH stimulates desmolase in theca interna cell to convert cholesterol to androgens

The androgens are transported to granulosa cell where stimulation by FSH causes aromatase to convert androgens to estrone, 17beta hydroxylase converts estrone to estradiol

97
Q

Where are estrogen receptors located?

A

cytosol, translocate to nucleus when bound by estrogen

98
Q

Where is progesterone produced?

A 
corpus luteum (up to  pregnenalone -> progesterone)
testes
99
Q

What are the functions of progesterone?

A
  • stimulation of endometrial glandular secretions and spiral artery development
  • maintenance of pregnancy
  • decreases myometrial excitability
  • produces thick cervical mucus to prevent sperm entry
  • increases body temp
  • inhibits gonadotropins (LH, FSH)
  • uterine smooth muscle relaxation (prevents contractions)
  • decreases estrogen receptor expression
  • Fall in progesterone after delivery disinhibits prolactin
  • high progesterone = ovulation
100
Q

Tanner stages of sexual development

A

I - prepubertal (halted here in Turner syndrome)

II - public hair appears (pubarche); breast buds form (thelarche)

III - public hair darkens and becomes curly; penis length increases; breasts enlarge

IV - penis width increases, darker scrotum, development of glans; raised areolae

V - Adult; areolae no longer raised, hair on thighs

101
Q

How long are the follicular (proliferative) and luteal (secretory) phases?

A

follicular - varies
luteal - always 14 days

ovulation day + 14days=menstruation

102
Q

MuCune Albright syndrome

A

GNAS1 mutation -> increases FSH receptor function; precocious puberty

103
Q

At what stage are primary oocytes arrested?

A

Arrested in prophase I until ovulation (diploid)

104
Q

At what stage are secondary oocytes arrested?

A

Arrested in metaphase II until fertilization (haploid)

105
Q

Ovulation

A

increased estrogen increases GnRH receptors on anterior pituitary -> estrogen surge stimulates LH release -> ovulation (rupture of Graafan follicle)

Temperature incerases

106
Q

Mittelschmerz

A

mid-cycle ovulatory pain, can mimic appendicitis

107
Q

Lactation

A

post delivery-> decrease in progesterone and estrogen disinhibits lactation

Suckling -> increases nerve stimulation -> increased oxytocin and prolactin

prolactin-lactation, decreases repro fxn
oxytocin-milk let down, promotes uterine contractions

108
Q

What does breast milk contain?

A

Passive immunity source:
maternal immunoglobulins, mostly IgA
macrophages
lymphocytes

Associated with decreased risk for child to get asthma, allergies, DM and obesity; decreased risk for mother to get breast and ovarian cancer

*requires vitamind D supplementation

109
Q

What is the source of hCG? What are its functions and when is it typically high and low?

A

source: syncytiotrophoblast of placenta

Function: maintain corpus luteum (progesterone) by acting like LH for first 8-10weeks, after that placenta synthesizes own estriol and progesterone

  • identical alpha subunit as Lh, FSH, TSH
  • higher hCG in multiple gestations, hydatidiform moles, choriocarcinomas, Down syndrome
  • lower hCG in ectopic/failing pregnancy, Edward and Patau syndromes
110
Q

What causes menopause?

A

low estrogen due to decline in number of ovarian follicles

avg age of onset is 51yrs (earlier in smokers)
*if before 40yo, can indicate premature ovarian failure

-usually preceded by several years of abnormal menstrual cycles

Hormonal changes: low estrogen, much higher FSH, high LH, high GnRH

*very high FSH is specific for menopause (loss of negative feedback from less estrogen)

111
Q

What are symptoms of menopause?

A 
Hot flashes
Hirsutism
Atrophy of vagina
Osteoporosis
Coronary artery disease
Sleep distrubances
112
Q

Spermiogenesis versus spermatogenesis

A

spermATOgenesis: begins at puberty, spermatogonia -> spermatids full development takes 2 months; occurs in seminiferous tubules

spermIOgenesis: spermatids mature into spermatozoon; loss of cytoplasmic contents, gain of acrosomal cap; occurs mostly in epididymis

113
Q

Where are the androgens produced and what is their relative potency?

A

DHT>testosterone> androstenedione

Testis: DHT and testosterone
Adrenal cortex: Androstenedione

114
Q

What are the functions of testosterone?

A
  • differentiation of internal genitalia (except prostate)
  • growth spurt: penis, seminal vesicles, sperm, muscle, RBCs
  • deepening of voice
  • closing of epiphyseal plates (via estrogen)
  • libido
115
Q

What are the functions of DHT?

A

Early: differentiation of penis, scrotum, prostate
Late: prostate growth, balding, sebaceous gland activity

116
Q

In males how are androgens converted to estrogen?

A

by cytochrome P450 aromatase (in adipose and testis)

117
Q

What hormones are responsible for BPH?

A

DHT and estrogen (increased estrogen ratio causes increased DHT density on prostate)

Reproductive pathophysiology (3 decks)

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