1A: Dt 5 - 2

Front 1

Foregut vs Midgut vs Hindgut:
Anatomic regions
Blood supply

Back 1

Foregut: Pharynx-->Duodenum; celiac artery

Midgut: Duodenum to transverse colon; SMA

Hindgut: Transverse colon to rectum; Inferior mesenteric Artery

Front 2

Gostroschisis:
What is it?
Liver extrusion?
Other anomalies (common/uncommon)

Back 2

Extrusion of abdominal contents through abdominal folds; not covered by peritoneum

Other anomalies uncommon
Liver never protrudes

Front 3

Omphalocele:
What is it?
Liver extrusion?
Other anomalies (common/uncommon)

Back 3

Persistence of herniation of abdominal contents into umbilical cord; covered by peritoneum

Liver commonly protrudes

Other anomalies COMMON--GI, GU, CV, CNS, MS

Front 4

Back 4

Omphalocele

Front 5

Describe the development of the midgut beginning at 6 weeks.

What can go wrong in this process?

Back 5

Midgut herniates through umbilical ring.

10th week: returns to abdominal cavity and rotates around SMA

-if doesn't return to abdomen-->omphalocele

-malrotation of midgut-->intestinal obstruction, volvulus

Front 6

Tracheoesophageal fistula:
What is it?
Most common form?

Back 6

Abnl connection b/t esophagus and trachea

Blind esophageal pouch (atresia)
Stomach (lower esophagus technically) attached to trachea

Front 7

Polyhydramnios is a sign of ______.

Back 7

Inability to swallow (anancephaly--lack brain center to execute swallowing; tracheoesophageal fistula where esophagus = blind pouch)

Front 8

Congenital pyloric stenosis:
What is it?

Back 8

Hypertrophy of pylorus causing obstruction

Results in nobilious projectile vomiting at ~2 weeks of age

Tx = surgery

Front 9

Palpable olive mass in epigastric region of new born
Projectile vomiting (non-bilious)

Back 9

Congenital pyloric stenosis

Can also result in hypochloremic metabolic alkalosis

Front 10

Spleen is derived from ____.

Back 10

Mesentery

Front 11

Pancreas is derived from ____.

Back 11

Mesoderm

Front 12

Annular pancreas:
What is it?
How does it arise?
Presentation

Back 12

Ventral pancreatic bud abnormally encircles duodenum, forms ring of pancreatic tissue that may cause duodenal narrowing

2/3 of pts asyx throughout life

Symptom onset includes children w/bilious vomiting, feeding intolerance, abdominal distention

Adults present with abdominal pain, postprandial fullness/nausea, peptic ulceration, pancreatitis

Front 13

Ureteric bud:
Origin
Role

Back 13

Derived from mesonephros

Gives rise to ureter, renal pelvises, and, through BRANCHING, calyces and collecting ducts

Fully canalized by 10th week

Front 14

Pronephros vs Mesonephros vs Metanephros:
General roles

Back 14

Pronephros: around 'til week 4, then degenerates

Mesonephros: interim kidney for 1st trimester; contribtues to male genital system

Metanephros: permanent kidney

Front 15

Potter's syndrome:
Pathophys
Presentation

Back 15

Caused by malformation of ureteric bud

B/L renal agenesis-->oligohydramnios-->limb deformitis, facies, pulm hypoplasia

Front 16

Back 16

Horseshoe kidney--normal function; inferior poles of both kidneys fuse during development, trapped under inferior mesenteric artery and remain low in abdomen

Front 17

Horseshoe kidney:
Pathophys

Back 17

Inferior poles of both kidneys fuse and as they ascend, get trapped under INFERIOR MESENTERIC ARTERY

Kidney fn is nl

Front 18

SRY gene:
Role

Back 18

On Y chromosome
Contribute to testes development;

Gene for Müllerian inhibiting factor from Sertoli cells to suppress paramesonephric ducts

Front 19

Role of Leydig cells in male genitourinary development.

Back 19

Leydig cells secrete androgens to promote dev't of mesonephric ducts (everything except prostate)--SVs, Epididymis, Ejaculatory Duct, Ductus Deferens (SEED)

Front 20

Why is female GU development considered the default?

Back 20

Will occur unless receive inhibition by Müllerian inhibitory factor from Sertoli cells

Mesonephric duct will degenerate (no androgens) and paramesonephric duct will develop

Front 21

Bicornuate uterus:
What is it?
Pathophys

Back 21

Incomplete fusion of paramesonephric ducts

Front 22

Genital tubercle:
What does it become (in males and females)?
Based on which hormones?

Back 22

If estrogen (female): glans clitoris, vestibular bulbs

If DHT (male): glans penis, corpus cavernosum, spongiosum

Front 23

Urogenital Sinus:
What does it become (in males and females)?
Based on which hormones?

Back 23

Estrogen (female):
Vestibular glands
Urethral, paraurethral glands

DHT (male):
bulbourethral glands
prostate

Front 24

Urogenital Folds:
What does it become (in males and females)?
Based on which hormones?

Back 24

Female (E2):
Labia minora

Men (DHT):
Ventral shaft of penis (penile urethra)

Front 25

Labioscrotal swelling:
What does it become (in males and females)?
Based on which hormones?

Back 25

E2-->labia majora

DHT-->scrotum

Front 26

Epispadias vs Hypospadias

Back 26

Epispadias--urethra opens on dorsal side of penis

Hypospadias--urethra opens on ventral side of penis

Front 27

Exstrophy of the bladder is associated with _______.

Back 27

Epispadias (dorsal urethra)

Front 28

Back 28

Exstrophy of bladder--assocd w/epispadias in males

Front 29

Who has Barr bodies?

Back 29

Women and men with Klinefelter's (have an extra X chromosome)

Front 30

47XXY

Back 30

Klinefelter's

Front 31

45XO

Back 31

Turner syndrome

Front 32

Turner Syndrome:
Chromosomal abnormality
Presentation
Hormone levels

Back 32

45XO

Short stature
Streak overies with infertility
WEBBED NECK
Shield chest

Most common cause of primary amenorrhea!

Low E2-->high LH and FSH

Front 33

This chromosomal disorder causes women to lack a Barr body.

Back 33

Turner's

Don't have Barr body because only have 1 X chromosome--no need to inactivate

Front 34

Very tall
Severe Acne
Normal fertility
Anti-social behavior

Back 34

Double Y Syndrome--XYY

Front 35

Back 35

Klinefelter's:
gynecomastia
no secondary sex chars
hypogonadism

Front 36

Back 36

Turner's Syndrome:
webbed neck
shield chest

Front 37

Diagnose:
High testosterone
High LH

Back 37

Defective androgen receptor (at level of CNS--no negative feedback)

Front 38

Diagnose:
High testosterone
Low LH

Back 38

Testosterone-secreting tumor
Exogenous steroids

Front 39

Diagnose:
Low testosterone
High LH

Back 39

Primary hypogonadism

Front 40

Diagnose:
Low testosterone
Low LH

Back 40

Hypogonadotropic hypogonadism

Front 41

True hermaphrodite vs Pseudohermaphrodite:
General
Karyotype

Back 41

True hermaphrodite: both ovary and testicular tissue present (ovotestis); ambiguous genitalia. RARE
(46 XX or 47XXY)

Pseudohermaphrodite:
External genitalia ≠ gonadal sex (testes vs ovaries)

Female: XX; ovaries present but external genitalia are virilized/ambiguous (inappropriate exposure to androgens during early gestation)

Male: XY; testes present but external genitalia are female or ambiguous. Most common form is androgen insensitivity syndrome (testicular feminization)

Front 42

Androgen insensitivity:
Pathophys
Presentation
Hormone levels?

Back 42

Defect in androgen receptor-->normal-appearing female externally, but with rudimentary vagina

Develops testes---often found in labia majora; surgically removed to prevent malignancy

High T, E, and LH (AR's aren't being activated, so keep pumping out T)

Front 43

Ambiguous genitalia until puberty

Back 43

5-alpha reductase deficiency--inability to convert testosterone to DHT

Puberty provides inc'd T to cause masculinization and growth of external genitalia

Front 44

What is cryptorchidism?
Risks?

Back 44

Failure of testis to descend into scrotum

Usually unilateral

35x inc'd risk of malignant tumor in undescended testicle (usually germ cell tumor)

Front 45

23 year-old patient presents with one testicle.

What is the patient at risk of?

Back 45

Undescended testicle-->germ cell tumor

Front 46

24 year-old male develops testicular cancer.

Metastatic spread occurs by what route?

Back 46

Para-aortic LNs-->body

Front 47

16 year-old female presents with amenorrhea. She lacks a uterus and uterine tubes and there are 2 round structures in the midline superior to the labia majora.

Cause of amenorrhea?

Back 47

Androgen insensitivity syndrome

Front 48

Female homologue:
Scrotum

Back 48

Labia majora

Front 49

Female homologue:
Prostate gland

Back 49

Urethra and paraurethral glands

Front 50

Female homologue:
Glans penis

Back 50

Glans clitoris

Front 51

Female homologue:
Corpus spongiosum

Back 51

Vestibular bulb

Front 52

Female homologue:
Bulbourethral glands

Back 52

Vestibular glands

Front 53

Female homologue:
Ventral shaft of penis

Back 53

Labia minora

Front 54

Gene that codes for testes determining factor

Back 54

SRY on Y chrom

Front 55

Female short stature
No Barr body

Back 55

Turner's

Front 56

XXY

Back 56

Kleinfelter's

Front 57

XO

Back 57

Turner's

Front 58

Presence of ovaries with external male genitalia

Back 58

Female pseudohermaphrodite

Front 59

Unable to generate DHT

Back 59

5-alpha-reductase deficiency

Front 60

Both ovarian and testicular tissues present

Back 60

True hermaphrodite

Front 61

Webbing of neck

Back 61

Turner's

Front 62

Male with Barr body in PMNs

Back 62

Kleinfelter's

Front 63

Ambiguous genitalia until puberty, then masculinization

Back 63

5-alpha-reductase deficiency

Front 64

Congenital cause:
Most common cause of early cyanosis

Back 64

Tetralogy of Fallot

Front 65

Congenital cause:
Most common cause of late cyanosis

Back 65

VSD-->Eisenmeyer's syndrome

Front 66

Congenital cause:
Most common cause of primary amenorrhea

Back 66

Turner's

Front 67

Congenital cause:
Most common chromosomal disorder

Back 67

Down's

Front 68

Congenital cause:
Most common cause of Mental Retardation
Second most common?

Back 68

FAS followed by Down's and Fragile X

Front 69

Congenital cause:
Most common cause of lethal genetic disease in Caucasians

Back 69

CF

Front 70

Congenital cause:
Most common cause of congenital malformations in US

Back 70

FAS

Front 71

Germ layer:
Retina

Back 71

Neuroectoderm

Front 72

Germ layer:
Salivary glands

Back 72

Surface ectoderm

Front 73

Germ layer:
Pancreas

Back 73

Endoderm

Front 74

Germ layer:
Muscles of abdominal wall

Back 74

Mesoderm

Front 75

Germ layer:
Thymus

Back 75

Endoderm

Front 76

Germ layer:
Spleen

Back 76

Mesentary

Front 77

Germ layer:
Aorticopulmonary septum

Back 77

NCC (ectoderm technically?)

Front 78

Germ layer:
Anterior pituitary

Back 78

Surface ectoderm

Front 79

Germ layer:
Posterior pituitary

Back 79

Neuroectoderm

Front 80

Germ layer:
Bones of skull

Back 80

NCC

Front 81

Germ layer:
Cranial nerves

Back 81

NCC

Front 82

What is the most common type of TE fistula?

Back 82

Blind esophagus, lower esophageal segment attached to trachea

Front 83

What is Potter's syndrome?

Back 83

Bilateral renal agenesis due to malformation of ureteric bud

Front 84

Classic presentation of congenital pyloric stenosis?

Back 84

Olive mass
Poor feeding
Projectile vomiting (non-bilious)
Hypochloremia metabolic alkalosis

Front 85

Label

Back 85

Front 86

Anti-centromere antibodies

Back 86

Scleroderma (CREST)

Front 87

Anti-desmoglein antibodies

Back 87

Pemphigus vulgaris (blistering)

Front 88

Anti-glomerular BM antibodies

Back 88

Goodpasture's Syndrome (GN and hemoptysis)

Front 89

Anti-histone antibodies

Back 89

Drug-Induced lupus (hydralazine, INH, phenytoin, procainamide)

Not HIPP to have Lupus!

Front 90

Anti-IgG antibodies

Back 90

Rheumatoid artrhitis

Front 91

Anti-mitochondrial antibodies

Back 91

Primary biliary cirrhosis (female, cholestasis, portal HTN)

Front 92

Anti-neutrophil cytoplasmic antibodies

Back 92

Vasculitis--
C-ANCA:
Wegener's

P-ANCA:
Churg-Strauss
Microscopic polyangitis

Front 93

Anti-platelet antibodies

Back 93

Idiopathic thrombocytopenic purpura (ITP)

Front 94

Anti-topoisomerase antibodies

Back 94

Diffuse scleroderma

Front 95

Anti-transglutaminase/anti-gliadin

Back 95

Celiac

Front 96

Back 96

Bamboo spine featuring calcifications between vertebrae

Ankylosing Spondylitis

Front 97

Azurophilic granular needles in leukemic blasts

Back 97

Auer rods--AML; esp. promyelocytic type

Front 98

Bamboo spine on x-ray

Back 98

Ankylosing spondylitis (HLA-B27)

Front 99

Basophilic nuclear remnants in RBCs

Back 99

Howell-Jolly Bodies

Front 100

Basophilic stippling of RBCs

Back 100

Lead poisoning
Sideroblastic anemia

Front 101

Bloody tap on LP

Back 101

SAH

Front 102

Boot-shaped heart on x-ray

Back 102

Tetralogy of Fallot
RVH

Front 103

Branching gram-positive rods with sulfur granules

Back 103

Actinomyces israeli

Front 104

Bronchogenic apical lung tumor

Back 104

Pancoast's Tumor

Front 105

Brown tumor of bone

Back 105

Hemorrhage causes brown color of osteolytic cysts; due to Hyperparathy

Front 106

Cardiomegaly with apical atrophy

Back 106

Chagas' Disease

Front 107

Cardiomegaly
Megacolon
Megaesophagus

Back 107

Chagas'

Front 108

Cellular crescents in Bowman's capsule

Back 108

Rapidly progressive crescentic glomerulonephritis

Front 109

Chocolate cyst of ovary

Back 109

Endometreiosis

Front 110

Circular grouping of dark tumor cells surrounding pale neurofibrils

Back 110

Homer Wright rosettes--neuroblastoma (it's an adrenal tumor!!), medulloblastoma, Ewing sarcoma

Front 111

Colonies of mucoid Pseudomonas in lung

Back 111

Cystic Fibrosis (CFTR mutation in Caucasians-->fat-soluble vitamin deficiency and mucus plugs)

Front 112

Anti-nuclear antibodies

Back 112

ANAs: anti-Smith and anti-dsDNA-->SLE (type III hypersens)