Reproductive 1 Flashcards
Sonic hedgehog gene
Produced at base of limbs in the zone of polarizing activity. Involved in patterning along the anteroposterior axis and CNS development. Mutations - holoprosencephaly.
Wnt-7 gene
Produced at the apical ectodermal ridge (thickened ectoderm at the distal end of each developing limb).
Necessary for the proper organization along the dorsal-ventral axis.
Fibroblast growth factor (FGF) gene
Produced at the apical ectodermal ridge. Stimulates mitosis of underlying mesoderm, providing for lengthening of limbs. “Look at that Fetus, Growing Fingers.”
Homeobox (Hox) genes
involved in the segmental organization of embryo in a craniocaudal direction.
Code for transcription factors.
Mutations -> appendages in the wrong locations.
Embryologic derivatives - Surface ectoderm
M - mammary glands E - Epidermis A - anal canal below the pectinate line L - lens of eye S - sweat glands
P - parotid
E - epithelial linings of the oral cavity
A - adenohypophysis (from Rathke pouch)
S - sensory organs of ear, and olfactory epithelium
Embryologic derivatives - Neural tube
NON-PEA Really Simple!
N - neurohypophysis
O - oligodendrocytes
N - neurons (CNS)
P - pineal gland
E - ependymal cells
A - astrocytes
R - retina
S - spinal cord
Embryologic derivatives - Neural crest
M - Melanocytes O - Odontoblasts T - Tracheal lining E - Enterochromaffin cells L - Leptomeninges
G - Ganglia (PNS) A - Adrenal medulla S - Schwann cells S - Spiral membrane E - Endocardial cushions S - Skull bones
Embryologic derivatives - Mesoderm
M - Mesothelioum (peritoneum, pericardium, pleura)
E - External layer of adrenals (cortex)
S - spleen (derived from foregut mesentery)
O - Osseus tissue (bone), ovaries + upper vagina
D - dermis
e
R - Renal tissue
M - Muscle + testes
C - cardiovascular structures + lymphatics, Connective tissue, u B - Blood i N - Notochord i G - Gut tube wall
Embryologic derivatives - Endoderm
P - pancreas/ parathyroid/ parafollicular (C) cells
L - lungs/ liver
A - anal canal (above the pectinate line)
G - gallbladder
U - urethra
E - eustachian tube, epithelium of gut tube
T - thymus
V - vagina (lower)
Mesodermal defects
Mesodermal defects= VACTERL: Vertebral defects Anal atresia Cardiac defects Tracheo-Esophageal fistula Renal defects Limb defects (bone and muscle)
Warfarin - Teratogenic outcomes
In war: Bones break - Bone deformities Bleed - fetal hemorrhage Abort missions - abortion, horrible sights - ophthalmologic abnormalities
Maternal diabetes
Caudal regression syndrome (anal atresia to sirenomelia), congenital heart defects (eg, VSD, transposition of the great vessels), neural tube defects, macrosomia, neonatal hypoglycemia, polycythemia
Monozygotic Twinning - timing of cleavage:
S: 0-4 days -> seperate chorion amd amnion
C: 4-8 days -> shared chorion
A: 8-12 days -> shared amnion
B: 13+ days -> shared body
1 egg + 1 sperm (vs. 2 eggs + 2 sperms)
Cytotrophoblast
The inner layer of chorionic villi.
Cytotrophoblast makes Cells
Syncytiotrophoblast
Syncytiotrophoblast synthesizes hormones.
Lacks MHC-1 expression - dec chance of attack by maternal immune system.
The outer layer of chorionic villi; synthesizes and secretes hormones, eg, hCC (structurally similar to LH; stimulates corpus luteum to secrete progesterone during the first trimester).
Maternal circulation (things transferred to the embryo)
H - Hormones O - O2/H2O N - Nutrients I - IgG E - electrolytes D - drugs
V- Viruses
Fetal circulation (things transferred to the mother)
H - Hormones
U - Urea, and waste
C - CO2
H - H2O
Aortic arch derivatives - 1st
Part of the maxillary artery (branch of external carotid).
Aortic arch derivatives - 2nd
Stapedial artery and hyoid artery.
SHeni
Aortic arch derivatives - 3rd
Common Carotid artery and proximal part of the internal Carotid artery.
Aortic arch derivatives - 4th
On left, aortic arch; on right, the proximal part of the right subclavian artery.
Aortic arch derivatives - 6th
The proximal part of pulmonary arteries and (on left only) ductus arteriosus.
1st pharyngeal arch - CARTILAGE
CARTILAGE -
Maxillary processe (maxilla and zygomatic bone)
Mandibular processe (mandibule bone amd Meckele cartilage)
Malleus and incus, sphenoMandibular ligament.
1st pharyngeal arch - MUSCLES/NERVES
T - Temperalis
e
M - Masseter
P - Pterygoids
M - Mylohyoid
D - Digastric (ant belly)
T - Tounge (ant 2/3)
a
T - Tensor veli paltini
T - Tensor tympani
CN V3
2nd pharyngeal arch - MUSCLES/NERVES
Muscles of facial expression, Stapedius, Stylohyoid, posterior belly of digastric
SSD + facial expression.
CN VII
2nd pharyngeal arch - CARTILAGE
Reichert cartilage:
Stapes, Styloid process, Stylohyoid ligament, the lesser horn of hyoid.
“3 S’s make me a little horny”
3rd pharyngeal arch - /CARTILAGE
Greater horn of hyoid
Stylopharyngeus
CN IX
4th- 6th pharyngeal arches - CARTILAGE
A - Arytenoids C - Cricoid C - Corniculate C - Cuneiform T - Thyroid
4th- 6th pharyngeal arches - MUSCLES/NERVES
4th arch: most pharyngeal constrictors; cricothyroid, levator veli palatini. CN X - sup. laryngeal branch (swallow).
6th arch: all intrinsic muscles of the larynx except cricothyroid. CN X recurrent/ inferior laryngeal branch (speak).
3rd - 4th pharyngeal arches form the:
post, 1/3 of the tongue.
Pierre Robin sequense
G - glossoptosis
O - obstruction of the airway
M - micrognathia
P - palate cleft
Treacher Collins syndrome
C - craniofacial abnormalities (zygomatic bone and mandibular hypoplasia} H - hearing loss A - airway compromise i N - neural crest dysfunction e D - dominant (AD)
1st pharyngeal pouch
Middle ear cavity, eustachian tube, mastoid air cells.
endoderm-lined structures of the ear.
2nd pharyngeal pouch
The epithelial lining of palatine tonsil.
“TWOnsils”
3rd pharyngeal pouch
Dorsal wings - inferior parathyroids.
Ventral wings - thymus (“Threemus”)
4th pharyngeal pouch
Dorsal wings - superior parathyroids.
Ventral wings: ultimopharyngeal body (ultimo-4-nigeal) parafollicular (C} cells of thyroid. (para-4-licular)
Cleft lip
failure of fusion of the maxillary and merged medial nasal processes (formation of primary palate}.
Cleft palate
Failure of fusion of the two lateral palatine shelves with:
- each other
- nasal septum
- median palatine shelf (secondary palate)
Mullerian agenesis (Mayer-RokitanskyKuster- Hauser syndrome)
May present as 1° amenorrhea (due to a lack of uterine development) in females with fully developed 2° sexual characteristics (functional ovaries).
Paramesonephric (Mullerian) duct
Develops into female internal structuresfallopian tubes, uterus, upper portion of vagina (lower portion from urogenital sinus). Male remnant is appendix testis.
Mesonephric (Wolffian) duct
Develops into male internal structures (except prostate) :
S - Seminal vesicles
E - Epididymis,
E - Ejaculatory duct
D - Ductus deferens
Female remnant is Gartner duct.
Absence of Sertoli cells
Lack of Mullerian inhibitory factor - develop both male and female internal genitalia and male external genitalia
5a-reductase deficiency-
inability to convert testosterone into DHT - male internal genitalia, ambiguous external genitalia until puberty (when inc. testosterone levels cause masculinization)
Septate uterus
Common anomaly vs normal uterus.
Incomplete resorption of the septum.
Dec fertility and early miscarriage/pregnancy loss. Treat with septoplasty.
Bicornuate uterus
Incomplete fusion of Mullerian ducts -> inc risk of complicated pregnancy, early pregnancy loss, malpresentation, prematurity.
Uterus didelphys
Complete failure of fusion - double uterus, cervix, vagina.
Pregnancy is possible.
Gubernaculum
Band of fibrous tissue.
Anchors testes within the scrotum - in males.
Ovarian ligament + round ligament of the uterus - in females.
Processus vaginalis
Evagination of peritoneum.
Forms tunica vaginalis - in males.
Obliterated - in females.
Female reproductive LIGAMENTS
B - Broad ligament O - Ovarian ligament R - Round ligament of the uterus I - infundibulopelvic ligament C - Cardinal (transverse cervical) ligament
Infundibulopelvic ligament
CONNECTS
STRUCTURES CONTAINED
CONNECTS - Ovaries to lateral pelvic wall
STRUCTURES CONTAINED - Ovarian vessels
Cardinal (transverse cervical) ligament
CONNECTS
STRUCTURES CONTAINED
CONNECTS - Cervix to side wall of pelvis
STRUCTURES CONTAINED - Uterine vessels
Round ligament of the uterus
CONNECTS
STRUCTURES CONTAINED
CONNECTS - Uteri ne horn to labia majora
Derivative of gubernaculum.
Travels through round inguinal canal;
Above the artery of Sampson.
Broad ligament
CONNECTS
STRUCTURES CONTAINED
CONNECTS - Uterus, fallopian tubes, and ovaries to the pelvic sidewall.
STRUCTURES CONTAINED - Ovaries, fallopian tubes, round ligaments of the uterus
Fold of peritoneum that comprises the mesosalpinx, mesometrium, and mesovarium.
Ovarian ligament
CONNECTS
CONNECTS - Medial pole of ovary to uterine horn
Derivative of gubernaculum. Ovarian ligament latches to lateral uterus.
Anterior urethral injury
Bulbar (spongy) urethra
Perineal straddle injury
Blood accumulates in scrotum. If Buck fascia is torn, urine escapes into perineaI space.
Blood at urethral meatus and scrotal hematoma
“Buck and Bulber”
Posterior urethral injury
Membranous urethra
Pelvic fracture
Urine leaks into retropubic space
Blood at urethral meatus and high-riding prostate
Membranous and Lmalla.
Autonomic innervation of male sexual response - Erection
Erection- Parasympathetic nervous system (pelvic splanchnic nerves, S2-S4):
- NO - Inc cGMP -> smooth muscle relaxation -> vasodilation -> proerectile.
- Norepinephrine -> Inc [Ca2+] -> smooth muscle contraction -> vasoconstriction -> antierectile.
Autonomic innervation of male sexual response
Emission and Expulsion
Emission - Sympathetic nervous system (hypogastric nerve, T11-L2).
Expulsion - visceral and Somatic nerves (pudendal nerve).
Sertoli cells
G - Granulosa cell (analog)
A - androgen-binding protein - maintain local levels of testosterone
M - MlF
B - blood-testis barrier - isolate gametes from autoimmune attack.
I - inhibin B -> inhibit FSH
T - Temperature-sensitive
S - Support and nourish developing spermatozoa
S - Seminefrus tubles (lines it)
Leydig cells
T - testosterone in the presence of LH, theca interna cells analog.
I - interstitium
T - temperature non-sensitive
E - Endocrine cells
Estrogen
E - Endocrine (feedback inhibition of FSH and LH, then LH surge; stimulation of prolactin)
S - sexual characteristics
T - transport proteins, SHBC; inc HDL; dec LDL
R - Receptors of estrogen, LH, and progesterone (Upregulation)
O - Organs - Growth of follicle, endometrial proliferation.
G - Granulosa cells
E - estriol inc x 1000 in pregnancy, 50-fold inc in estradiol and estrone.
N - Nipple development
S - Sources: Ovary ( 17 beta-estradiol), placenta (estriol), adipose tissue (estrone via aromatization).
U - Uterine excitability.
X - Oxytocin sensitivity
Progesterone
M - mucus (thick cervical - inhibits sperm entry into the uterus)
E - endometrial hyperplasia prevention, endometrial glandular secretions and spiral artery development.
T - temperature inc.
E - Endocrine ( dec LH, FSH)
R - receptor of estrogen expression dec.
S - Sources (Yellow TAP - Corpus luteum, testes, adrenal cortex, placenta)
In pregnancy:
• Maintenance of pregnancy
• Dec myometrial excitability - dec contraction frequency and intensity
• Dec prolactin action on breasts
Oogenesis
1° oocytes begin meiosis I during fetal life and complete meiosis I just prior to ovulation.
Meiosis I is arrested in prOphase I for years until Ovulation (1° oocytes).
Meiosis II is arrested in metaphase II until fertilization (2° oocytes). “An egg met a sperm.”
If fertilization does not occur within 1 day, the 2° oocyte degenerates.
Menstrual cycle
The follicular phase can vary in length.
The luteal phase is 14 days. Ovulation day+ 14 days = menstruation.
Estrogen stimulates endometrial proliferation.
Progesterone maintains endometrium to support implantation.
Dec. progesterone - dec fertility.
Follicular growth is the fastest during_____week of the follicular phase.
2nd
Abnormal uterine bleeding
These are further subcategorized by PALM COE-IN:
• Structural causes (PALM): Polyp, Adenomyosis, Leiomyoma, or Malignancy/ hyperplasia
• Non-structural causes (COE-IN):
Coagulopathy, Ovulatory, Endometrial, Iatrogenic, Not yet classified
Gestational age vs Embryonic age
Gestational age- calculated from the date of last menstrual period.
Embryonic age- calculated from the date of conception (gestational age minus 2 weeks).
Physiologic adaptations in pregnancy - Heart
Inc CO, HR, Preload
Dec. afterload
Physiologic adaptations in pregnancy - Blood
Anemia (Inc RBC, but much greater plasma inc)
Hypercoagulability.
Physiologic adaptations in pregnancy - lung
Hyperventilation - eliminate fetal CO2
Physiologic adaptations in pregnancy - metabolism
lipolysis and fat utilization (due to maternal hypoglycemia and insulin resistance) -> preserves glucose and amino
acids for utilization by the fetus.
Placental hormone secretion generally increases
over the course of pregnancy, but hCC peaks at_____
8- IO weeks.
identical a subunit as
F - FSH i L - LH T - TSH H - hCC
States of inc can cause hyperthyroidism.
The beta subunit is unique (pregnancy tests detect beta subunit).
hCG Inc and dec in:
hCG is Inc in multiple gestations, hydatidiform moles, choriocarcinomas, and Down syndrome;
hCG is dec. in ectopic/failing pregnancy, Edwards syndrome, and Patau syndrome.
Human placental lactogen
Also known as chorionic somatomammotropin.
SOURCE: Syncytiotrophoblast of placenta.
FUNCTION: Stimulates insulin production; overall t insulin resistance.
Gestational diabetes can occur if maternal pancreatic function cannot overcome the insulin resistance.
Testosterone - Growth spurt:
S - seminal vesicles P - penis e R - RBCs M - muscle S - sperm
Testosterone
Differentiation of:
S- seminal vesicles
E- epididymis
E- ejaculatory duct
D- vas deferens
(internal genitalia, except prostate).
- Deepening of voice.
- Closing of epiphyseal plates (via estrogen converted from testosterone).
- Libido
Menopause
Hormonal changes: Dec estrogen, BIG inc in FSH, inc LH (no surge), inc GnRH
C - Coronary artery disease H - Hot flashes A - Atrophy of the Vagina O - Osteoporosis S - Sleep disturbances
Turner syndrome - Characteristics
Female, 45, XO. Short stature (if untreated; preventable with growth hormone therapy), ovarian dysgenesis (streak ovary), shield chest rn, bicuspid aortic valve, coarctation (femoral< brachial pulse), lymphatic defects (result in a webbed neck or cystic hygroma; lymphedema in feet, hands), horseshoe kidney, high-arched palate, shortened 4th metacarpals.
The most common cause of 1° amenorrhea. No Barr body.
Menopause before menarche. Pregnancy is possible in some cases
Turner syndrome - genetics
Sex chromosome (X, or rarely Y) loss often due to nondisjunction during meiosis or mitosis.
Meiosis errors usually occur in paternal gametes - sperm missing the sex chromosome.
Mitosis errors occur after zygote formation - loss of sex chromosome in some but not all cells - mosaic karyotype
(eg. 45,X/46XX).
(45,X/46,XY) mosaicism associated with increased risk for gonadoblastoma.
Placental aromatase
deficiency
Inability to synthesize estrogens from androgens. Masculinization of female (46,XX DSD) infants
(ambiguous genitalia), t serum testosterone, and androstenedione. Can present with maternal
virilization during pregnancy (fetal androgens cross the placenta).
Androgen insensitivity
syndrome
Defect in androgen receptor resulting in normal-appearing female (46,XY DSD); female external genitalia with scant axillary and pubic hair, rudimentary vagina; uterus and fallopian tubes absent. Patients develop normal functioning testes (often found in labia majora; surgically
removed to prevent malignancy). Inc testosterone, estrogen, LH (vs sex chromosome disorders).
5a-reductase deficiency
Autosomal recessive; sex limited to genetic males (46,XY DSD). Inability to convert testosterone to DHT. Ambiguous genitalia until puberty, when t testosterone causes masculinization/t growth of
external genitalia. Testosterone/estrogen levels are normal; LH is normal or t. Internal genitalia
are normal.
Kallmann syndrome
Failure to complete puberty; a form of hypogonadotropic hypogonadism.
Defective migration of GnRH-releasing neurons and subsequent failure of olfactory bulbs to develop - dec synthesis of GnRH in the hypothalamus; hyposmia/anosmia; Dec GnRH, FSH, LH testosterone.
Infertility (low sperm count in males; amenorrhea in females).
Abruptio placentae - Risk factors:
Trauma (eg, motor vehicle accident), smoking,
hypertension, preeclampsia, cocaine abuse.
Presentation: abrupt, painful bleeding (concealed or apparent) in the third trimester;
possible DIC (mediated by tissue factor activation), maternal shock, fetal distress. Life-threatening for mother and fetus.
Morbidly adherent placenta
Placenta accreta -placenta attach es to myometrium without penetrating it; most-common type.
Placenta increta -placenta penetrates into the myometrium.
Placenta percreta -placenta penetrates through myometrium into uterine serosa (invades entire u te rine wall)
Defect in decidual layer - abnormal attachment and separation after delivery. Risk factors : (irritation)
prior C -section or uterine surgery involving myometrium, inflammation, placenta previa, advanced maternal age, multiparity
Vasa Previa triad
Presents with a triad of membrane rupture, painless vaginal bleeding, fetal bradycardia (< 110 beats/min).
Emergency C-section usually indicated. Frequently associated with velamentous umbilical cord insertion (cord inserts in chorioamniotic membrane rather than placenta - fetal vessels travel to placenta unprotected by Wharton jelly).
Postpartum
hemorrhage
Due to 4 T’s:
Tone (uterine atony; most common)
Trauma (lacerations, incisions, uterine rupture)
Thrombin (coagulopathy),
Tissue (retained products of conception).
Polyhydramnios
Too much amniotic fluid. Often idiopathic, but associated with fetal malformations (eg,
esophageal/duodenal atresia, anencephaly; both result in an inability to swallow amniotic fluid) and
D - (diabetes) maternal
A - anemia (fetal)
M -multiple gestations
Preeclampsia Pathology
New-onset hypertension with either proteinuria or end-organ dysfunction after 20th week of gestation (< 20 weeks suggests molar pregnancy}.
Caused by abnormal placental spiral arteries - endothelial dysfunction, vasoconstriction, ischemia.
Treatment: antihypertensives, IV magnesium sulfate (to prevent seizure}; definitive is delivery of the fetus.
Preeclampsia - risk factors and complications
Incidence inc in patients with:
H - hypertension (pre-existing) A - autoimmune disorders (eg, antiphospholipid antibody syndrome) CK - chronic kidney disease e D - diabetes
Complications: placental abruption, coagulopathy, renal failure, pulmonary edema, uteroplacental insufficiency; may lead to eclampsia (+ seizures} and/or HELLP syndrome.
