Embryology (Endo and Repro) Flashcards

(91 cards)

1
Q

Thyroid development

A
  1. ) Thyroid diverticulum arises from floor of primitive pharynx and DESCENDS into neck
  2. ) Connected to tongue by thyroglossal duct –>may persist as pyramidal lobe
  3. ) Most common ectopic thyroid site is tongue (lingual thyroid)
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2
Q

Thyroglossal duct

A
  1. ) Foramen cecum is normal remnant of thyroglossal duct

2. ) May persist as thyroglossal duct cyst – anterior midline neck mass that moves with swallowing

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3
Q

Fetal adrenal gland

A

Inner active fetal zone
Outer adult zone - secretes cortisol (lung maturation, surfactant production) during late gestation under control of fetal pituitary and placenta (ACTH, CRH)

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4
Q

Sonic hedgehog

A
  1. ) A/P axis patterning; produced at base of limbs in ZPA

2. ) Involved in CNS development; mutation can cause holoprosencephaly (forebrain does not form 2 hemispheres)

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5
Q

Wnt-7

A

D/V axis patterning; produced at apical ectodermal ridge (thickened ectoderm at distal end of each developing limb)

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6
Q

FGF gene

A

Produced at apical ectodermal ridge; stimulates mitosis of underlying mesoderm –>limb elongation

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7
Q

Hox genes

A

DNA-binding TFs that regulate morphogenesis; involved in segmental organization of embryo in craniocaudad direction; mutation –>appendages in wrong locations

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8
Q

Fetal development: day 0

A

Fertilization by sperm forming zygote, initiating embryogenesis

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9
Q

Fetal development: within week 1

A

hCG secretion begins after implantation of blastocyst

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10
Q

Fetal development: within week 2

A

Bilaminar disc (epiblast, hypoblast) **2 weeks = 2 layers

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11
Q

Fetal development: within week 3

A

Gastrulation –>trilaminar disk **3 weeks = 3 layers

Epiblast invaginates to from primitive streak, notochord, mesoderm + organization, neural plate

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12
Q

Fetal development: weeks 3-8

A

Neural tube formed by neuroectoderm and closes
Organogenesis
Extremely susceptible to teratogens

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13
Q

Fetal development: within week 4

A

Heart begins to beat

Upper and lower limb buds begin to form **4weeks = 4 limbs

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14
Q

Fetal development: week 8 (start of fetal period)

A

Fetal movement, fetus looks like a baby

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15
Q

Fetal development: week 10

A

Genitalia have male/female characteristics

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16
Q

Surface ectoderm derivatives

A
Epidermis
Rathke's pouch (ant. pit)
Lens and cornea
Inner ear sensory organs
Nasal, oral, and olfactory epithelium
Salivary, sweat, mammary glands
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17
Q

Neuroectoderm (neural tube) derivatives

A

Brain and spinal cord
Posterior pituitary
Pineal gland
Retina

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18
Q

Neural crest derivatives

A
Autonomic, sensory, and celiac ganglia
Adrenal medulla
Pia and arachnoid mater
Melanocytes
Schwann cells
Aorticopulmonary septum
Endocardial cushions
Branchial arches (bones & cartilage)
Skull bones
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19
Q

Mesoderm derivatives

A
Paraxial mesoderm
Muscles (skeletal, cardiac, smooth)
Bones & cartilage
Connective tissue
Cardiovascular system and blood
Lymphatics
Serosal linings
Spleen (foregut mesentery)
Wall of gut tube
Adrenal cortex

Intermediate mesoderm
Kidney & ureters
Internal genitalia

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20
Q

Endoderm derivatives

A
Middle ear
Lung
Thymus
Thyroid follicular cells
Parathyroids
GI tract
Liver
Pancreas
Bladder and urethra
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21
Q

Errors: agenesis

A

Absent organ due to absent primordial tissue

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22
Q

Errors: aplasia

A

Absent organ despite primordial tissue

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23
Q

Errors: deformation

A

Extrinsic disruption; occurs after the embryonic period

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24
Q

Errors: hypoplasia

A

Incomplete organ development; primordial tissue present

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25
Errors: malformation
Intrinsic disruption; occurs during the embryonic period (weeks 3-8)
26
Teratogen timing of effect
Before week 3: all or nothing effects Weeks 3-8: most susceptible After week 8: growth and function affected
27
Teratogen: ACEi
Renal damage
28
Teratogen: Alkylating agents
Absence of digits, multiple anomalies
29
Teratogen: Aminoglycosides
CN VIII toxicity (ototoxicity)
30
Teratogen: Carbamazepine
NTDs, craniofacial defects, fingernail hypoplasia, developmental delay, IUGR
31
Teratogen: DES
Vaginal clear cell adenocarcinoma, congenital Mullerian anomalies
32
Teratogen: Folate antagonists
NTDs
33
Teratogen: Lithium
Ebstein's anomal (atrialized RV)
34
Teratogen: Phenytoin
Fetal hydantoin syndrome: microcephaly, dysmorphic craniofacial features, hypoplastic nails and distal phalanges, cardiac defects, IUGR, mental retardation
35
Teratogen: Tetracyclines
Discolored teeth
36
Teratogen: Thalidomide
Limb defects (flipper limbs)
37
Teratogen: Valproate
Inhibition of maternal folate absorption -->NTDs
38
Teratogen: Warfarin
Bone deformities, fetal hemorrhage, abortion, ophthalmologic abnormalities
39
Substance abuse: alcohol
Birth defects, mental retardation, fetal alcohol syndrome
40
Substance abuse: cocaine
Abnormal fetal development and fetal addiction; placental abruption -->prematurity
41
Substance abuse: smoking (nicotine, CO)
Preterm labor, placental problems, IUGR, ADHD
42
Iodide imbalance
Congenital goiter or hypothyroidism (cretinism)
43
Maternal diabetes
Caudal regression syndrome (anal atresia to sirenomelia; agenesis of lower spine/sacrum), congenital heart defects, NTDs
44
X rays
Microcephaly, mental retardation
45
Fetal alcohol syndrome
Congenital abnormalities, mental retardation, pre- and post-natal developmental retardation, microcephaly, holoprosencephaly, facial abnormalities, limb dislocation, heart and lung fistulas
46
Twinning: monozygotic
Dichorionic diamniotic, fused or separate placenta (0-4d, 25%) Monochorionic diamniotic (4-8d, after morula, 75%) Monochorionic, monoamniotic (8-12d, after blastocyst, 13d)
47
Twinning: dizygotic
Always dichorionic, dizygotic
48
Cytotrophoblast
Inner layer of chorionic villi; makes cells
49
Syncytotrophoblast
Outer layer of chorionic villi; secretes hCG (similar to LH; stim of CL to make progesterone during 1st trimester)
50
Decidua basalis
Derived from endometrium; maternal blood in lacunae
51
Umbilical cord
2 umbilical arteries (deox blood from fetal internal iliac aa.), 1 umbilical vein (ox blood from placenta); derived from allantois, surrounded by Wharton jelly
52
Urachal duct
3rd week - yolk sac forms allantois which becomes urachus -- connects bladder and yolk sac
53
Patent urachus
Urine discharge from umbilicus
54
Vesicourachal diverticulum
Outpouching of bladder
55
Vitelline duct
7th week - obliteration of vitelline duct which connects yolk sac to midgut lumen
56
Vitelline fistula
Meconium discharge from umbilicus
57
Meckel's diverticulum
Partial closure, with patent portion attached to ileum. May have ectopic gastric mucosa -->melena, periumbilical pain, and ulcer
58
1st aortic arch derivative
Maxillary artery
59
2nd aortic arch derivative
Stapedial artery
60
3rd aortic arch derivative
Common carotid and proximal part of internal carotid artery
61
4th aortic arch derivative
(L) Aortic arch and (R) right subclavian artery
62
6th aortic arch derivative
Proximal part of pulmonary artery and (L) ductus arteriosus
63
Branchial cleft derivatives
1st cleft becomes external auditory meatus; the remaining clefts make temporary cervical sinuses which obliterate with development of 2nd arch mesenchyme
64
1st branchial arch
Mandible, Malleus, incus, Mandibular ligament, muscles of mastication, CN V2 and V3
65
1st branchial arch abnormality
Treacher Collins syndrome: neural crest of 1st arch fails to migrate -->mandibular hypoplasia, micrognathia, facial abnormalities
66
2nd branchial arch
Stapes, Styloid process, Stylohyoid ligament, less horn of hyoid, Stapedius, Stylohyoid, posterior belly of digastric, CN VII
67
3rd branchial arch
Greater horn of hyoid, stylopharyngeus, CN IX
68
3rd branchial arch abnormality
Congenital pharyngo-cutaneous fistula: persistence of cleft and pouch -->fistula between tonsillar area, cleft in lateral neck
69
4th-6th branchial arches
Thyroid, cricoid, arytenoids, corniculate, cuneiform cartilages 4th arch - pharyngeal constrictors, cricothyoid, levator veli palatini, CN X (superior laryngeal branch) 6th arch - all intrinsic muscles of larynx except cricothyroid, CN X (recurrent laryngeal branch)
70
1st branchial pouch
Middle ear cavity, eustachian tubes, mastoid air cells
71
2nd branchial pouch
Develops into epithelial lining of palatine tonsil
72
3rd branchial pouch
Dorsal wings -->inferior parathyroids | Ventral wings -->thymus
73
4th branchial pouch
Dorsal wings -->superior parathyroids
74
DiGeorge syndrome
Aberrant development of 3rd and 4th branchial pouches -->T cell deficiency (thymic aplasia), hypocalcemia (absent parathyroids)
75
MEN2a syndrome
Mutation of germline RET (neural crest): Adrenal medulla (pheo) Parathyroid tumor: 3rd-4th pharyngeal pouches Parafollicular cells (MTC): 4th-5th pharyngeal pouches
76
Cleft lip
Failure of fusion of the maxillary and medial nasal processes (formation of 1st palate)
77
Cleft palate
Failure of fusion of the lateral palatine processes, the nasal septum, and/or the median palatine process (formation of the 2nd palate)
78
Female genital development
Default development; mesonephric duct degenerates and paramesonephric duct develops
79
Male genital development
SRY gene on Y chromosome produces testes determining factor -->testes Sertoli cells secrete MIF -->suppresses development of paramesonephric ducts Leydig cells secrete androgens -->promotes development of mesonephric ducts
80
Paramesonephric duct
Develops into female internal structures
81
Mullerian duct abnormalities
Result in primary amenorrhea with secondary sex characteristics (Mullerian agenesis/imperforate hymen)
82
Bicornuate uterus
Failure of fusion of paramesonephric ducts | Assoc. with urinary tract abnormalities and miscarriages
83
Mesonephric duct
Develops into male internal structures except prostate | Ductules differentiate to form efferent ductules
84
Absent Sertoli cells/no MIF
Develop both male and female internal genitalia, male external genitalia
85
5a-reductase deficiency
Male internal genitalia, ambiguous external genitalia until puberty (small phallus, hypospadias), no electrolyte abnormalities
86
Genital tubercle (structure)
DHT -->glans penis, corpus cavernosum and spongiosum | Estrogen -->glans clitoris, vestibular bulbs
87
Urogenital sinus
DHT --> Cowper's glands, prostate gland | Estrogen -->Bartholin's glands, Skene's glands
88
Urogenital folds
DHT -->penile urethra | Estrogen -->labia minora
89
Labioscrotal swelling
DHT -->scrotum | Estrogen -->labia majora
90
Hypospadias
Opening of penile urethra on inferior side of penis due to failure of urethral fold closure
91
Epispadias
Opening of penile urethra on superior side of penis due to faulty positioning of genital tubercle