Steve Avery's Reproductive Lockup Flashcards
Sonic headgehog gene
Produced at the base of the limbs in zone of polarizing activity;
involved in patterning along anterior-posterior axis;
Involved in CNS development;
Mutation can cause holoprosencephaly
Wnt-7 gene
Produced at the apical ectodermal ridge (thickened ectoderm at distal end of each developing limb);
Necessary for proper organization along dorsal-ventral axis
FGF gene
Produced at the apical ectodermal ridge;
stimulates mitosis of underlying mesoderm;
providing for lengthening of limbs
Homeobox (Hox) genes
Involved in segmental organization of embryo in a craniocaudal direction. Hox mutations lead to appendages in wrong locations
Early fetal development: day 0
Fertilization of egg by sperm forming the zygote, initiating embryogenesis
Early fetal development: within 1 week of fertilization
hCF secretion begins around the time of implantation of the blastocyst
Early fetal development: within 2 weeks of fertilization
bilaminar disc (epiblast and hypoblast); 2 weeks= 2 layers
Early fetal development: within 3 weeks of fertilization
trilaminar disc, 3 weeks=3 layers;
gastrulation;
primitive streak, notochord, mesoderm and its organization, and neural plate begin to form
Early fetal development: weeks 3-8 post fertilization
Embryonic period;
neural tube formed by neuroectoderm and closes by week 4;
organogenesis;
extremely susceptible to teratogens
Early fetal development: Week 4
Heart begins to beat;
upper and lower limb buds begin to form;
4 weeks= 4 limbs
Early fetal development: week 6
Fetal cardiac activity visible by transvaginal ultrasound
Early fetal development: week 10
Genitalia have male/female characteristics
Grastrulation
Process that forms the trilaminar embryonic disc;
Establishes the ectoderm, mesoderm, and endoderm germ layes;
starts with the epiblast invaginating to form primitive streak
Surface ectoderm leads to what notable structures
Adenohypophysis (from Rathke pouch); lens of the eye; epithelial lining of the oral cavity, sensory organs of ear, and olfactory epithelium; Epidermis; anal canal below the pectinate line; parotid, sweat, and mammary glands
Craniopharyngioma
Benign Rathke pouch tumor with cholesterol crystals, calcifications
Neuroectoderm leads to what notable structures
Brain (neurohypophysis, CNS neurons, oligodendrocytes, astrocytes, ependymal cells, pineal gland), retina, optic nerve, spinal cord;
Just think CNS
Neural crest leads to what notable structures
PNS (dorsal root ganglia, cranial nerves, celiac ganglion, Schwann cells, ANS); Melanocytes; chromaffin cells of adrenal medulla; Parafollicular C cells of thyroid; pia and arachnoid; bones of the skull; Odontoblasts; aorticopulmonary septum
Mesoderm leads to what structures
Muscle, bone, connective tissue, serous linings of body cavities(e.g. peritoneum), spleen (from foregut mesentery), cardiovascular structures, lymphatics, blood, wall of gut tube, vagina, kidneys, adrenal cortex, dermis, testes, ovaries;
Notochord induces ectoderm to form neuroectoderm (neural plate). Its post natal structures are
Nucleus pulposus of the intervertebral disc. That is it.
Endoderm
Gut tube epithelium (including anal canal above the pectinate line), most of urethra (derived from urogenital sinus), luminal epithelium derivatives (e.g. lungs, liver, gall bladder, pancreas, eustachian tubes, thymus, parathyroid, thyroid follicular cells)
Errors in morphogenesis: agenesis
Absent organ due to absent primordial tissue
Errors in morphogenesis: aplasia
Absent organ despite presence of primordial tissue
Errors in morphogenesis: Hypoplasia
Incomplete organ development;
primordial tissue present
Errors in morphogenesis: Deformation
extrinsic disruption;
occurs after the embryonic period
Errors in morphogenesis: Disruption
secondary breakdown of a previously normal tissue or structure (e.g. amniotic band syndrome)
Errors in morphogenesis: malformation
Intrinsic disruption;
occurs during embryonic period (weeks 3-8)
Errors in morphogenesis: sequence
Abnormalities result from single primary embryologic event (e.g. oligohydramnios leads to potter sequence)
Teratogen and its effect: ACE inhibitors
Renal damage
Teratogen and its effect: Alkylating agents
absence of digits, multiple abnormalities
Teratogen and its effect: Aminoglycosides
CN VIII toxicity;
a mean guy hit the baby in the ear
Teratogen and its effect: Carbamazepine
Neural tube defects, craniofacial defects, fingernail hypoplasia, developmental delay, IUGR
Teratogen and its effect: Diethylstilbestrol (DES)
Vaginal clear cell adenocarcinoma, congenital Mullerian anomalies; Adenosis (persistance of columnar cells in upper 2/3 of vagina, should be replaced by squamous cells) which leads to Vaginal clear cell adenocarcinoma
Teratogen and its effect: Folate antagonists
Neural tube defects
Teratogen and its effect: Lithium
Ebstein anomaly (atrialized right ventricle)
Teratogen and its effect: Methimazole
Aplasia cutis congenita (“Congenital absence of skin”)
Teratogen and its effect: Phenytoin
Fetal hydantoin syndrome: microcephaly, dysmorphic craniofacial features, hypoplastic nails and distal phalanges, cardiac defects, IUGR, intellectual disability
Teratogen and its effect: Tetracyclines
Discolored teeth; Teethracyclines
Teratogen and its effect: Thalidomide
Limb defects (phocomelia, micromelia-flipper limbs; limb defects with tha-limb-domide
Teratogen and its effect: valproate
Inhibition of maternal folate absorption leading to neural tube defects;
Valproate inhibits folate absorption
Teratogen and its effect: warfarin
Bone deformities, fetal hemorrhage, abortion, opthalmologic abnormalities;
Do not wage war on the baby, keep it heppy with heparin (does not cross placenta)
Teratogen and its effect: Alcohol
Common cause of birth defects and intellectual disability; fetal alcohol syndrome
Teratogen and its effect: cocaine
Abnormal fetal growth and fetal addiction; placental abruption
Teratogen and its effect: Smoking (nicotine, CO)
A leading cause of low birth weight in developed countries;
Associated with preterm labor, placental problems, IUGR, ADHD
Teratogen and its effect: Iodine (lack of or excess)
Congenital goiter or hypothyroidism (cretinism)
Teratogen and its effect: Maternal diabetes
Caudal regression syndrome (anal atresia to sirenomelia);
congenital heart defects;
neural tube defects
Teratogen and its effect: Vitamin A excess
Extremely high risk for spontaneous abortions and birth defects (Cleft palate, cardiac abnormalities)
Teratogen and its effect: X-rays
Microcephaly, intellectual disability
Fetal alcohol syndrome
One of the leading causes of congenital malformations in the US;
Increased risk for: intellectual disability, pre and postnatal developmental retardation, microcephaly, holoprosencephaly, facial abnormalities (smooth philtrum, thin upper lip, small palpebral fissures, hypertelorism), limb dislocation, and heart defects
Dizygotic twins arise from
Arise from 2 separate eggs fertilized by 2 separate sperm;
have 2 separate amniotic sacs;
2 separate placents (chorions).
Monozygotic twins arise from
arise from 1 fertilized egg that splits into 2 zygotes in early pregnancy
Monozygotic twins that separate in the first 4 days
before morula forms;
cleavage can cause fused or separate placenta;
either way you get dichrorionic and diamniotic placenta;
Monozygotic twins that separate in the 4-8 day range
(after morula forms, but before blastocyte);
Cleavage leads to monochorionic diamniotic twins
monozygotic twins that separate in the 8-12 day range
After blastocyst forms;
get monochorionic monoamniotic twins
Monozygotic twins that separate after 12 days
Cleavage leads to monochorionic monoamniotic conjoined twins
Fetal component of placental: cytotrophoblast
inner layer of chorionic villi;
Cytotrophoblast makes Cells
Fetal component of placental: Syncytiotrophoblast
Outer layer of chorionic villi; secretes hCG (structurally similar to LH; stimulates corpus luteum to secrete progesterone during first trimester)
Maternal component of placental: Decidua basalis
Derived from the endometrium, the maternal blood would be in the lacunae
Umbilical cord
contains 2 umbilical arteries (look like the eyes): return deoxygenated blood from fetal internal iliac arteries to placenta;
Contains 1 umbilical vein (looks like the mouth): supplies oxygenated blood from placenta to fetus, drains into IVC via liver or ductus venosus;
Arteries and veins are derived from allantois
Urachus
In the 3rd week the yolk sac forms the allantois, which extends into the urogenital sinus. Allantois becomes the urachus, a duct between fetal bladder and yolk sac
Failure of urachus to obliterate causes
Patent urachus- urine discharge from umbilicus;
Urachal cysts- partial failure of urachus to obliterate, fluid-filled cavity lined with uroepithelium, between umbilicus and bladder, can lead to infection and adenocarcinoma;
Vesiourachal diverticulum- outpouching of bladder
Vitelline duct
7th week-obliteration of vitelline duct (omphalo-mesenteric duct), which connects yolk sac to midgut lumen;
Failure of the vitelline duct to obliterate causes
Vitelline fistula- meconium discharge from umbilicus;
Meckel diverticulum- Partial closure, with patent portion attached to ileum (true diverticulum). May have ectopic gastric and pancreatic tissue leading to melena, periumbilical pain, and ulcers
What arterial system does this aortic arch develop into: 1st arch
Part of the maxillary artery (branch of external carotid);
1st arch is the max
What arterial system does this aortic arch develop into: 2nd arch
Stapedial artery and hyoid artery;
Second=Stapedial
What arterial system does this aortic arch develop into: 3rd arch
Common Carotid artery and proximal part of internal Carotid artery;
C is 3rd letter
What arterial system does this aortic arch develop into: 4th arch
on left-aortic arch;
on right-proximal part of right subclavian artery;
4th arch=4 limbs=systemic
What arterial system does this aortic arch develop into: 6th arch
Proximal part of the pulmonary arteries and ductus arteriosis (on left only);
6th=pulmonary and pulmonary to systemic shunt
Branchial apparatus
AKA pharyngeal apparatus;
composed of clefts, arches, pouches;
Clefts-derived from ectoderm, AKA branchial grooves;
Arches-derived from mesoderm (muscles, arteries) and neural crest (bones, cartilage);
Pouches- derived from endoderm;
CAP covers inside to outside= Clefts, Arches, Pouches
Branchial cleft derivates
1st cleft develops into external auditory meatus;
2nd through 4th clefts form temporary cervical sinuses, which are obliterated by proliferation of 2nd arch mesenchyme;
Persistent cervical sinus leads to branchial cleft cyst within lateral neck (remnant of 2nd cleft)
Branchial arch derivatives of 1st arch
Cartilage: Meckel cartilage (Mandible, Malleus, incus, spheno-Mandibular ligament;
Muscles: Muscles of Mastication (temporalis, Masseter, lateral and medial pterygoids), Mylohyoid, anterior belly of digastric, tensor tympani, tensor veli palatini;
Nerves: CN V2, V3 (chew);
Branchial arch derivatives of 2nd arch
Cartilage: Reichert cartilage (Stapes, Styloid process, lesser horn of hyoid, Stylohyoid ligament);
Muscles: Muscle of facial expression )Stapedius, Stylohyoid, platySma), belly of digastic;
Nerves: CN VII (facial expression);
Abnormalities in 1st branchial arch development
Treacher collins syndrome (failure of 1st arch neural crest cells to migrate leading to mandibular hypoplasia, facial abnormalities)
Abnormalities in 2nd branchial arch development
Congenital pharyngo-cutaneous fistula: persistance of cleft and pouch leading to fistula between tonsillar area and lateral neck
Branchial arch derivatives of 3rd arch
Cartilage: greater horn of hyoid;
Muscles: Stylopharyngeus (think of stylopharyngeus innervated by the glossopharyngeal nerve);
Nerves: CN IX (stylo-pharyngeus), swallow stylishly
Branchial arch derivatives of 4th and 6th arch
Cartilage: thyroid, cricoid, arytenoids, corniculate, cuneiform;
Muscles: 4th-Most pharyngeal constrictors, cricothyroid, levator veli palatini, 6th- all intrinsic muscles of larynx except crycothyroid;
Nerves: 4th- CN X (superior laryngeal branch, simply swallow), 6th- CN X (recurrent laryngeal branch, speak)
Branchial arches 3 and 4 create what together
the posterior 1/3 of tongue
What is derived from this branchial pouch: 1st
Develops into the middle ear cavity, eustachian tube, mastoid air cells;
1st pouch contributes to endoderm-lined structures of ear
What is derived from this branchial pouch: 2nd
Develops into the epithelial lining of the palatine fossa
What is derived from this branchial pouch: 3rd
Dorsal wings-develops into the inferior parathyroids;
Ventral wings-develops into the thymus;
3rd pouch= 3 structures (thymus, left and right parathyroid);
3rd pouch ends up below the 4th
What is derived from this branchial pouch: 4th
Dorsal wings-develops into superior parathyroids
DiGeorge syndrome
Aberrant development of 3rd and 4th pouches leads to T cell deficiency (thymic aplasia) and hypocalcemia (failure of parathyroid development). Associated with cardiac defects (conotruncal anomalies)
MEN 2A
Mutation of Germline RET (neural crest cells);
Adrenal medulla (pheochromocytoma);
Parathyroid (tumor): 3rd and 4th pharyngeal pouch;
Parafollicular cells (medullary thyroid cancer): derived from neural crest cells: associated with 4th and 5th pharyngeal pouches
Cleft lip
Failure of fusion of the maxillary and medial nasal processes (formation of primary palate)
Cleft palate
Failure of fusion of the two lateral palatine processes or failure of fusion of lateral palatine processes with the nasal septum and/or median palatine process (formation of secondary palate)
Genital embryology: males and the SRY gene
SRY gene on chromosome Y produces testis determining factor (testes development)
Genital embryology: Male Sertoli cells make what
Secrete Mullerian inhibitory factor (MIF);
suppresses development of paramesonephric ducts
Genital embryology: Male leydig cells do what
Secrete androgens that stimulate development of mesonephric ducts
Mesonephric (wolffian) duct develops into
male internal structures (Except prostate): SEED; Seminal vesicles; Epididymis; Ejaculatory Duct; Ductus deferens
Bicornuate uterus
Results from incomplete fusion of the paramesonephric ducts (vs. complete failure of fusion, resulting in double uterus and vagina). Can lead to anatomic defects such as recurrent miscarriages
Lets say you have a male with SRY gene on his Y chromosome (normal), but he has no sertoli cells or no mullerian inhibitory factor
Develop both male and female internal genitalia and male external genitalia
What if you have a XY male that has a defect in 5alpha reductase
can’t convert testosterone into dihydrotestosterone;
Male internal genitalia, ambiguous external genitalia until puberty (then increased testosterone will cause manly development)
What does this structure grow into when exposed to dihydrotestosterone (male) vs Estrogen (female): Genital tubercle
Men: glans penis, Women: Glans clitoris;
Men: Corpus cavernosum and spongiosum, women: vestibular bulbs
What does this structure grow into when exposed to dihydrotestosterone (male) vs Estrogen (female): urogential sinus
Men: bulbourethral glands of Cowper, Women: Greater vestibular glands of Bartholin;
Men: prostate gland, Women: Urethral and paraurethral glands of Skene
What does this structure grow into when exposed to dihydrotestosterone (male) vs Estrogen (female): Labioscrotal swelling
Men: scrotum, Women: Labia majora
Hypospadias
Abnormal opening of the urethra on inferior (ventral) side of penis due to failure of urethral folds to close;
More common than epispadius;
Fix to prevent UTIs and infertility;
Hypo is below
Epispadias
Abnormal opening of penile urethra on superior (dorsal) side of penis due to faulty positioning of genital tubercle;
Exstrophy of bladder is associated with epispadias;
What are the female and male remnants of: Gubernaculum
males: anchors testes within scrotum;
Females: ovarian ligament + round ligament of uterus.
What are the female and male remnants of: Processus vaginalis
Males: forms tunica vaginalis;
Female: obliterated
Venous drainage of gonads
Left ovary/testes drains into left gonadal vein into the left renal into the IVC;
Right ovary/testes drains into the right gonadal vein into the IVC
Lymphatic drainage of gonads
Ovaries/testes drain into the para-aortic lymph nodes;
Distal vagina/vulva/scrotum drain into the inguinal nodes;
Proximal vagina/uterus drains into the obturator, external iliac and hypogastric
Infundibulopelvic ligament (suspensory ligament of the ovaries): does what, contains what
Connects ovaries to lateral pelvic wall;
Contains the ovarian vessels;
Ligate vessels during oophorectomy to avoid bleeding;
Ureter courses retroperitoneally, close to gonadal vessels. At risk of injury during ligation of ovarian vessels
Cardinal ligament: does what, contains what
Connects cervix to side wall of pelvis;
contains uterine vessels;
Ureter at risk of injury during ligation of uterine vessels in histerectomy;
Round ligament of the uterus: does what
Uterine fundus to labia majora;
Derivative of gubernaculum. Travels through round inguinal canal; above the artery of sampson
Broad ligament: connects what, contains what
Connects uterus, fallopian tubes, and ovaries to pelvic side wall;
Ovaries, fallopian tubes, and round ligaments of uterus;
Mesosalpinx, mesometrium, and mesovarium are the components of the broad ligament
Ovarian ligament: connects what
Connects the medial pole of ovary to lateral uterus;
a derivative of the gubernaculum;
Ovarian Ligament Latches to Lateral uterus
Female epithelial histology that makes up the: vagina
Stratified squamous epithelium, nonkeratinized
Female epithelial histology that makes up the: Ectocervix
Stratified squamous epithelium, nonkeratinized
Female epithelial histology that makes up the: Endocervix
Simple columnar epithelium
Female epithelial histology that makes up the: Transformation zone
squamocolumnar junction (most common area for cervical cancer
Female epithelial histology that makes up the: Uterus
Simple columnar epithelium with long tubular glands
Female epithelial histology that makes up the: Fallopian tube
simple columnar epithelium, many ciliated cells, a few secretory (peg) cells
Female epithelial histology that makes up the: Ovary, outer surface
Simple cuboidal epithelium (germinal epithelium covering surface of ovary)
Female sexual response cycle
Most commonly describe as phase of excitement (uterus elevates, vaginal lubrication), plateau (expansion of inner vagina), orgasm (contraction of uterus), and resolution;
mediated by autonomic nervous system;
also causes tachycardia and skin flushing
Male reproductive anatomy: pathway of sperm during ejaculation
SEVEN UP;
Semininferous tubules, Epididymis, Vas deferens, Ejaculatory ducts, Nothing, Urethra, Penis