Clinical Correlates Flashcards
1
Q
Peritonitis
A
Bacterial contamination via gut trauma causing rupture of the stomach (laparotomy)
Results in infection/inflammation of the peritoneum via surgery, ruptures or ulceration
Primary = caused via infection and disease
Secondary = caused by accidental lacerations during surgery MORE COMMON
2
Q
Peritoneal adhesions and adhesiotomy
A
Damaged peritoneal surfaces may become inflamed and sticky with fibrin
Fibrin is eventually replaced with fibrous tissue causing chronic pain.
If fibrous tissue forms, requires adhesiolysis which is surgical separation of the fibrous tissue/ adhesions
3
Q
Ascites
A
Accumulation of ascetic fluids inside the peritoneal cavity causing abdominal distention and swelling
Caused by surgical lacerations, cirrhosis of liver or malignant cancer
- very distended stomach and may cause respiratory issues
- Usually pools in hepatorenal recess during supine and the rectovesical pouch when standing*
4
Q
Abscess formation
A
Collections of purulent exudate that accumulates and causes localized infection in a peritoneal space
- Caused usually by duodenal ulcers, ruptured gallbladder or appendix.
- most common site is subphrenic recess
5
Q
Internal hernia through omental foramen
A
Rare hernia that occurs via small intestine passing through omental bursa
6
Q
Temporary control of hemorrhage from cystic artery
A
Pringle maneuver: cystic artery may be lighted or clamped and and then severed during a cholecystectomy
7
Q
Rupture of diaphragm
A
A sudden increase in intra-abdominal pressure may rupture the diaphragm
- can be traumatic or congenital
8
Q
Abdominal hernias
A
Structures penetrate and pass through abdominal wall in areas of potential weakness
Areas of weakness include
- inguinal
- umbilical
- epigastric regions
9
Q
Abdominal aortic aneurism
A
Localized enlargement of the abdominal aorta.
High mortality rate when ruptured
10
Q
Gastro-Esophageal Refulx Disorder (GERD)
A
Recurrent “heartburn” caused by regurgitation of gastric fluid into the abdominal esophagus
- caused by failure of lower esophageal sphincter
11
Q
Para-esophageal hiatal Hernia
A
Fundus of the stomach herniated through the esophageal hiatus without going into the esophagus itself
Cardia stays in place.
- no regurgitation since cardinal orifice is still in normal position.
12
Q
Sliding Hiatal Hernia
A
Esophagus, cardia, fundus all herniate through the esophageal hiatus and into the esophagus itself
Causes likely regurgitation and is more damaging than para-esophageal hernias
13
Q
Pylorospasm
A
Spasmodic contractions of the pyloric between 2-12 weeks of age.
- caused by smooth muscle fibers encircling the pyloric canal to be in constant spasm and failure to relax
- results in food not passing properly to duodenum and stomach becomes overfilled, often resulting in discomfort and vomiting
14
Q
Congenital Hypertrophic Pyloric Stenosis
A
Marked thickening of the smooth muscles along the pyloric sphincter.
- Impairs gastric emptying into the duodenum.
- often marked by a non-bilious projectile vomiting, dehydration and olive sized masses during palpating of the epigastric region
More common in males than females
Single-Bubble sign in radiographs*
15
Q
Duodenal atresia
A
Congenital absence or complete closure of the duodenum at the duodenajejunal flexure.
- often found in Downs pregnancies or overproduction of amnotic fluid during pregnancy.
- fetus cant swallow or absorb fluid resulting in distention of the stomach and duodenum.
- marked by bilious projectile vomiting
- Double-Bubble* sign in radiographs
16
Q
Paraduodenal hernias
A
2-3 inconstant folds and fossa around the duodenojejunal flexure.
- intestinal loop can enter these fossa and cause bowl strangulations
Can affect inferior mesenteric artery/vein and/or the left colic artery due to close proximity
17
Q
Peptic Ulcers
A
Infection of Helicobacter pylori in the duodenum or stomach
H. Pylori erodes the mucous lining of the stomach and inflaming the mucosa, making it vulnerable to effects of gastric acid and enzymes.
- if unchecked, can erode the wall of the organ and subsequent arteries causing lethal hemorrhage.
18
Q
Pancreatic cancer
A
Drains to lymph nodes that’s re relatively inaccessible and metastasize quickly making mortality rates high.
Often obstructs IVC, Bile duct or hepatopancreatic ampulla.
19
Q
Hirschsprung’s disease (congenital megacolon)
A
Failure of neural crest cells to migrate to the distal colon during embryogenesis
Causes abnormal development of the autonomic nerves and the enteric system in the distal large intestine.
Ultimately results in non-functional distal colon and accumulation of colon contents in proximal colon.
20
Q
Diverticulosis
A
Rupture of Multiple outpockets of the wall of the colon at weak points between teniae coli.
Causes infection and peritonitis
21
Q
Appendicitis
A
Blocked appendix causes acute inflammation in the appendix.
Clinical signs = vomiting, nausea, fever, pain and lack of appetite
- Pain is usually in the peri-umbilical region, lumbar region and McBurney’s point.
- contains fecaliths or hyperplasia lymphatic vesicles
- if untreated can cause ischemia and peritonitis (when ruptured)
22
Q
Ischemia of the intestine
A
Occlusion of vasa recta by emboli originating in heart or atherosclerotic occlusions results in ischemia.
Severe cases cause necrosis and paralysis.
Clinical signs = colicky pain, abdominal distention, vomiting, fever, dehydration.
Most common site is Superior mesenteric artery (SMA) due to more obtuse angle.
Requires SMA angiogram to clear obstruction.
23
Q
Volvulus of sigmoid colon
A
Rotation and twisting of mobile loop of sigmoid colon
Results in obstruction of lumen of the colon proximal to the twisted segment
Progressively results in ischemia, necrosis and obstipation (inability to pass stool) if left untreated.
24
Q
Inflammatory bowel disease (IBD)
A
Includes ulcerative colitis and Crohn’s disease
Inflammation of the intestines in various ways.
25
Ulcerative colitis
Chronic inflammation and ulceration of the innermost mucosal lining of the large intestine.
- forms pseudopolyps
- increase risk of colorectal cancer
26
Crohn’s disease
Patch inflammation anywhere in the GI tract extending to deeper layers of intestinal wall.
*most common in small intestine*
Etiology is unknown
- increases risk of colorectal cancer
27
Most common flow and site of ascites or peritonitis pooling
Uses the parabolic gutters to flow the ascetic fluid and infections through out the peritoneal cavity.
*hepatorenal recess when supine and pelvic floor when standing*
Draining requires patents to sit at >45degrees
28
Esophageal varices
Inferior esophageal veins markedly enlarge and form a portal-caval anastomoses when the hepatic portal vein is blocked (portal hypertension).
These varices can rupture and cause internal hemorrhage.
*very common in alcoholic cirrhosis in the liver*
29
Displacement of the stomach
Pancreatic pseudocysts, pancreatitis and abscesses in the omental bursa can cause the stomach to displace
Pancreatitis = posterior displacement
Pancreatic pseudocysts and omental abscesses = anterior displacement
*can cause adhesion of the stomach to the pancreas*
30
Visceral referred pain in the stomach
Stomach pain caused by multiple reasons can cause skin pain along the T7-T8 dermatome
31
Duodenal ulcers
Inflammatory erosions of the duodenal mucosa w/ the majority of ulcers occurring in the posterior wall of the superior duodenum.
Ulcers can perforate the wall causing peritonitis.
Ulcers can also adhere the liver, gallbladder or pancreas to the duodenum via chronic inflammation.
32
Spleen rupture
Rupturing of the spleen occurs by disruption of its soft pulp. Always results in intraperitoneal hemorrhage and shock.
*spleen is most commonly injured abdominal organ*
33
Splenectomy
Removal of the spleen when ruptured due to incapability of healing.
Usually partial is preformed when possible.
Results in greater susceptibility to encapsulated bacterial infections
34
Splenomegaly
Enlargement of the spleen by roughly 10x due to a diseased spleen or hypertension.
If the lower edge of the spleen is palpable always means splenomegaly.
35
Pyloric stenosis
Extreme narrowing of the pyloric lumen and sphincter obstructing passage of food.
Results in severe projectile vomiting
Can also result in atretic pyloric (complete closure of the pyloric lumen).
36
Annular pancreas
Obstruction of the duodenum via fashion of the dorsal pancreatic bud with an abnormal bifid vental pancreatic bud.
Results in a “ring” appearance.
37
Mobile cecum
Failure of the mesentary attached to the ascending colon to fuse with the abdominal wall.
Allows for abnormal movement of the cecum and ascending colon and sometime Volvulus (looping in itself causing a herniation) of the cecum and colon.
- can also result in retrocolic portions behind the colon allowing additional sites of herniation and pooling.
38
Omphalocele
Herniation of abdominal viscera through the umbilical ring of the fetus in the womb.
Caused by failure of the bowel to return to body cavity during development.
High mortality and chromosomal abnormalities.
39
Gastroschisis
Protrusion of abdominal contents through the body wall directly into amniotic cavity lateral to umbilicus in the womb.
Caused by abnormal closure around the connecting stalk
Results in bowel damage and exposure to amnotic fluid.
40
Meckel diverticulum
Small portion of Vitelli need duct persists resulting in an abnormal outpocket in the ileum close to the ileocecal valve
Asymptomatic baring extreme increases of pressure (results in rupture)
41
Enterocystoma
Both ends of vitelline duct transforms into fibrous cords and forms a large cyst in the middle of the duct.
Fibrous cords can cause volvulus or strangulation of the intestines.
42
Umbilical fistula
Vitelline duct does not devolve over its entire length causing a direct communication between the umbilicus and intestines.
Can result in fecal discharge at the umbilicus
43
Rectourethral/ rectovaginal fistulas
Failure to form the cloaca and urorectal septum
Asymptomatic
44
Imperforate anus
Incomplete seperation of the cloaca into urogential and anorectal portions.
No urorectal septum
45
Congenital megacolon (Hirschsprungs disease)
Dilation of distal colon (descending or sigmoid usually) due to lack of autonomic ganglia in myenteric plexus distal to the segment dilated.
Prevents movement along that part of the colon resulting in fecal build up and distended stomach.
46
Pancreatic pseudocysts
Pancreatic fluid pooling in the omental bursa
Caused by inflamed, ruptured or lacerated pancreas
Often pushes the stomach anteriorly and if pancreatitis is present, can form a direct adhesion between posterior omental bursa and stomach
47
Pyrosis
“Heart burn”
Most common cause of esophageal discomfort and Sub-sternal pain
GERD is most common form but can also be associated with hiatal hernias
48
Caput Medusae
Type of varices caused by portal obstruction and subsequent portal-caval anastomoses.
- caused when peri-umbilical veins become enlarged due to this process and can rupture.
49
Hemorrhoids
Caused by enlarged superior and inferior rectal veins due to portal-caval anastomoses.
The primary cause is portal hypertension to some degree, causing a need for the rectal veins to anastomoses
Two types: internal and external
50
Pancreatic cancer
Often obstruct IVC, bile duct or hepatopancreatic ampulla resulting in bile blockage, jaundice and enlarged gallbladders
-metastasis quickly and often
51
Gallstones (cholelithiasis)
Concentrations of crystals in the gallbladder, cystic duct or bile duct
- usually asymptomatic unless lots are present. High numbers can cause obstruction, cholecystitis (inflammation of gallbladder).
- left untreated can cause cholecysto-enteric fistulas
* illieocecal valvue is a very common site of obstruction*
52
Porcelain gallbladder
Inflammatory scarring and calcification of the gallbladder usually caused by cholelithiasis.
-very common in overweight females
53
Subphrenic abscess
Collections of pus within the subphrenic recess.
When patient is supine drains to the hepatorenal recess.
54
Cirrhosis of the liver
Fatty or fibrous scar tissue accumulation within the liver.
Causes firm liver and impedes circulation of blood through portal venous system which causes portal hypertension and variable varices pending on where portal-caval anastomoses occurs.
* looks hobnail-like*
55
Cholecysto-enteric fistula
Large gallstones can cause inflammation of the gallbladder
Adhesions with gallbladder and intestinal viscera occur during intense inflammation and subsequent ulceration of this adhesion.
Gallstones now move throughout intestines instead of remaining in gallbladder.
56
Colorectal carcinoma
Malignant tumors of colon and rectum that often metastasis to the liver or lungs
- metastasis to liver is more common due to superior rectal vein draining directly into portal system
- metastasis in lungs occurs through drainage by middle and inferior rectal veins which skip the portal system initially.
clinical signs = loss of appetite, diarrhea, weight loss and blood in stool.
57
Esophageal atresia
Caused by deviation of the tracheoesophageal septum in the posterior direction, causing incomplete separation or sometimes complete failure of esophageal recanalization
Causes the proximal esophagus to blindly end where as the distal esophagus attaches to the trachea via fistula
- results in polyhydramnios (accumulation of amniotic fluid in fetus(
58
Tracheo-esophageal fistula
Failure of recanalization of the tracheoesophageal septum causing incomplete Division of the esophagus and trachea at various points
59
Esophageal stenosis
Narrowing of the esophageal lumen at various locations (usually distal 1/3rd)
Caused by incomplete recanalization of esophagus during week 8
60
Abnormal shapes in female pelvis
Platypelloid: wider but shorter
- “platypus beak”
Android: heart/funnel shaped
Anthropoid: longer but narrower
All can result in complications for birth through vaginal delivery
61
Pelvic fractures
Almost always are segmented fractures
Common types of pelvic injuries and the sites of common associated fractures
Crush accidents = anywhere
Heavy object falling onto pelvis = pubic rami
Falls from high heights directly onto feet = acetabulum
62
Latrogenic injury of ureters
When uterine, ovarian or testicular arteries need to be ligated for a procedure, the ureters are at risk for being injured
63
Injury to pelvic nerves
Obturator nerve is most likely to be hurt during surgery or childbirth
- injury is marked by painful spasms of the adductor thigh muscles and loss of sensation to the medial thigh
64
Ureteric calculi
Dilated ureters and kidneys are seen in CT/MRIs if kidney stones block the ureter
- causes severe pain if large
- treatment is surgery, passing manually or lithotripsy (shock waves break up stones)
65
Cystocele
Herniation of the urinary bladder through the anterior wall (usually in females so vaginal wall)
66
Rupture of the bladder
Results in urine pooling based on how it was ruptured.
Superior ruptures = intraperitoneal/ extravasation pooling
Posterior ruptures = Extraperitoneal pooling
67
Abscesses in seminal glands
Collections of pus in seminal glands usually a result of gonococci (gonorrhea pathogens) infections
- palpable seminal glands are usually an indication of abscesses in seminal glands
68
Hypertrophy of prostate
Common occurrence when aging.
- most common in the middle lobule
Causes urethral obstruction if big enough and causes dysuria and urgency
Can also increase bladder and kidney infections (cystitis)
69
Ectopic tubal pregnancy
Most common type of ectopic gestation/ pregnancy. (1/250)
- implantation in the uterine tube instead of uterus.
70
Hysterectomy
Surgical excision of the uterus
Can be done through the anterior abdominal wall (transabdominal)
Or through the vagina (transvaginal)
Ligation of arteries are done as distal to the vaginal artery as possible (heals quicker)
71
Vaginal fistulae
Abnormal passages between the vaginal lumen and the bladder, urethra, bowel, or rectum.
Vesicovaginal, ureterovaginal, and urethrovaginal fistulas result in urine pooling
72
Pelvic organ prolapse
Stretching or tearing of the levator ani or pelvic fascia
Often occurs during child birth, extreme trauma, inflammation and infection
*Can result in a vaginal fistula*
73
Types of vaginal prolapse
Urethrocele, cystocele, uterovaginal, rectocele, enterocele
Urethrocele: prolapse of lower vaginal wall with urethra
Cystocele: prolapse of anterior vaginal wall with bladder
Uterovaginal prolapse: prolapse of uterus, cervix or superior vagina
Rectocele: prolapse of the lower posterior vaginal wall into rectum
Enterocele: prolapse of the upper posterior vaginal wall involving rectovaginal pouch.
74
Pelvic organ prolapse quantification (POP-Q)
Four degrees of prolapse
- 1st degree: prolapse of organ halfway to the hymen
- 2nd degree: prolapse of organ to hymen
- 3rd degree: prolapse of organ past hymen
- 4th degree: complete descent of organ out or normal position
75
Internal hemorrhoids
Prolapses of rectal mucosa containing dilated rectal veins.
Result from muscularis mucosa breakdown and are only treated if they prolapse or ulcerated
Can ulcerated and impede blood flow if they prolapse into anal canal
When bleed, blood is bright red
Are not painful since they are above the pelvic painline
76
External hemorrhoids
Result of thrombosis in external rectal plexus veins
Can result from pregnancy, chronic constipation, and anything that impedes venous return and increases intra-abdominal pressure.
Often result from portal hypertension which produces anastomoses between superior, middle and inferior rectal veins.
Are painful since they are below the pelvic pain line
77
Possible reasons for distention of scrotum
Indirect inguinal hernias
Inflammation of testies
Mumps or other inflections (especially parasitic infections)
Bleeding or chronic lymph obstruction
78
Hypospadias
Most common congenital anomaly of the penis
Changes in positioning of the external urethral
Types:
Glandular = ventral surface of penis
Penile = Body of the penis
Scrotal =. Perineum
79
Phimosis and paraphimosis
Phimosis:
Tight fit of the prepuce over the glans of the penis and cannot be easily retracted
- often produces smegma and irritation
Paraphimosis: retraction of prepuce over the glans penis causes construction of blood vessels in the penis
Both are most commonly treated with circumcision
80
Impotence and erectile dysfunction
Inability to obtain erection due to two primary causes
- lesions of the prostatic plexus or cavernosium nerves/ blood vessels
- CNS or endocrine disorders (specifically hypothalamus testicular and pituitary)
81
Bartholinitis
Infection of the greater vestibular glands and impinge onto the rectum.
- can produce gland cysts
82
Pudendal nerve block
Very common procedure used to release perineal pain during childbirth or surgery
Only does anterior perineum/ posterior vagina , posterior cutaneous nerve of the thigh does posterior perineum.
Provides parasthesia of S2-S4 dermatomes
83
Vaginismus
Involuntary muscle spasms that occur in the vagina often during sexual inter pours easily
Is caused by distended perineal muscles and almost always realists in dyspareunia and prevents vaginal entry
84
Rupture of the urethra in males
Intermediate part of urethra:
- often caused by pelvic girdle fractures
- commonly associated with hematocele and urine build up
- build up is found in deep perineal pouch
Spongy part:
common through straddle injury and results in extravastion of urine into scrotum or superior abdominal wall
85
Hydrocele
Accumulation of fluid into the tunica vaginalis of the testis or along the spermatic cord.
Often due to infection or occlusion of processes vaginalis.
86
Varicocele
Enlargement of panpiniform plexus via black age upstream.
Appears bag of worms-like
Usually caused by blockage to the left renal vein, causing downstream blockage of the left panpiniform plexus
87
Ilioinguinal nerve block
Applies parasthesia over the anterior part of the perineum.
Often applied in conjunction with pudendal nerve block to complete desensitize vagina during birth.
88
Nutcracker syndrome
Compression of the left renal vein between the SMA and the abdominal aorta.
Blocks the left testicular vein and can often cause a varicocele
89
Superior mesenteric artery syndrome
Compression of the duodenum between the SMA and abdominal aorta.
Often caused due to a lack of peritoneal fat
90
Fabellar syndrome
Painful irritation of the lateral popliteal fossa
Due to presence of fabella Desmond bone that did not degenerate
91
Potts (Dupuytren) fracture
Hyper Eversion ankle sprain
Results in the flowing:
torn anterior and posterior tibiofibular ligament
Torn deltoid ligaments
Interosseous membrane tears
Fracture of medial malleolus
Spiral fracture of proximal fibula
92
Bakers cyst
Abnormal fluid-filled synovial sac between semimembrouns tendon and medial head of gastrocnemius
93
Hallux valgus
Lateral deviation of hallux often caused by degenerative joint disease of chronic pressure from footwear
- can result in corns or bunions
94
Claw toe
Hyperextension of metatarophalangeal joints and flexion of DIP foot joints
Develop callouses and corns
95
Hammer toe
Proximal phalanx is permanently dorsiflexion and middle phalanx is permanently plantarflexed
Unknown caused by theorized weak lumbaricals or interosseous Muscles
96
Maisonneuve fracture
Eversion ankle injury
Tear:
- Tibiofibula ligaments
- deltoid ligaments
- Interosseous membranes
Fractures:
- posterior medial malleus
- spiral fracture of fibula
97
Hydronephrosis
Obstruction of the Ureter caused by an accessory artery to the inferior pole of the kidney that does not degenerate while the kidneys ascend.
Causes enlarged urinary bladder that can be seen in imaging
98
Unilateral renal agenesis
one kidney (usually the left one) does not form. Caused by failure of the ureteric buds to penetrate the metanephrogenic blastema or complete absence of ureteric bud.
- Usually asymptomatic until puberty and causes hypertrophy of the remaining kidney
- 1/1000 neonates w/ males more likely affected
- should be suspected if an infant only has a single umbilical artery
99
Bilateral renal agenesis
Both kidneys do not form. Usually caused by failure of both ureteric buds to penetrate both metanephrogenic blastema or complete absence of both ureteric buds.
- causes oligohydramnios (low amniotic fluid levels), anuria, hypoplastic lungs
- Also associated with Potter syndrome (20%) and polycystic kidneys.
- Usually results in infant death shortly after birth
100
Polycystic kidney disease
Genetic disorder where renal tubules don’t develop properly and result in multiple cysts in kidneys
101
Ectopic kidneys
Abnormal positioning of kidneys usually caused by failure to rotate during development.
- most common sites are pelvis and inferior abdominal wall
- pelvic kidneys usually fuse together and form a “pancake kidney
102
Crossed renal ectopia
One kidney becomes ectopic and moves over to the same side as the normal kidney when ascending.
- Almost always results in fusion
103
Horseshoe kidney
Unilateral fused kidney that fuse at the inferior poles just at the beginning of ascension.
- usually found in the pubic region right under the inferior mesenteric artery
- usually asymptomatic unless blockage occurs, then deadly.
104
Bifid ureter
Results from partial early division of a ureteric bud before penetrating the metanephrogenic blastoma
- results in one proximal ureter, but has two distal ends in the kidney
105
Potter sequence
Abnormal appearance during birth causes incompatibility with life.
Presents with the following
- Low-set eyes
- Beaked nose
- Prominent epicanthic
- Downward slanted eyes with eyelids folded over.
-Often presented with bilateral renal agenesis
106
Autosomal recessive polycystic kidney disease (ARPKD)
Progressive disorder where cysts form in the collecting ducts causing extreme hypertrophy of the cystic kidney.
- renal failure at infancy/childhood
- Occurs in 1/5000 (much more rare)
- genes affected are PKD1/2 and PKHD1
107
Autosomal dominant polycystic kidney disease (ADPKD)
Progressive disorder where cysts form in the nephrons causing extreme hypertrophy of the cystic kidney.
- renal failure in adulthood
- occurs in 1/500 - 1/1000 (more common)
- genes are affected PKD1/2 and PKHD1
108
Double ureter
Results from complete early division of a ureteric bud before penetrating the metanephrogenic blastoma
- results in two separate Ureteral that go to the same kidney (usually)
- can result in an ectopic ureter
109
Common locations for ectopic ureter and its definition
Ectopic ureter: double ureter where one ureter does not enter the urinary bladder
Females:
- Vagina
- Urethra
- Vestibule
Males:
- neck of bladder
- prostatic portion of urethra
- ductus deferens
- prostatic utricle
- seminal gland
110
Urachal fistula
Entire Allantois does not degenerate and persists
- causes urine to drain from umbilicus (pee out your belly button)
111
Urachal cyst
Local area of allantois persists and urachus forms. Generates a fixed cyst that gradually fills
- usually forms in median umbilical ligament and causes pain when it is full
- connects to the umbilicus and urinary bladder and is tender at touch
112
Urachal sinus
Upper part of allantois persists and the urachus does not seal. Forms a Blind-ended sac that can be a sight for infection
- if not infected, is asymptomatic
113
Exstrophy of the bladder
Ventral wall of the bladder does not develop. Caused by later staged failure of lateral body wall folds to fuse in the midline.
- causes bladder to be exposed but is present
- occurs 1/5000 (rare)
114
Exstrophy of the cloaca
Ventral body wall defect where the lateral body wall folds don’t initiate or are disrupted early when initiating closure. This results in no bladder being formed at all
- occurs in 1/30,000 (very rare)
- also disrupts urorectal septum and usually results in imperforate anus
115
XX Testicular DSD
A rare disorder that produces a chromatin-positive nuclei that results in a 46 XX chromosome
- SRY gene is translocated to the X chromsome
- results in male external genitalia with small testes and hypospadias
116
XY Gonadal Dysgenesis
Disorder that produces chromatin negative nuclei and a 46 XY chromosome.
- causes by inadequate testosterone ant anti-mullarian Hormone in testies
- results in external and internal female appearing genitalia and under devolped gonads
- do not produce secondary sexual characteristics at puberty
117
Ovotesticular DSD
Disorder that has chromatin positive nuclei and has a variety of chromosomal constitution (usually 46 XX)
- can result in 46 XX/ 46XY mosaicism.
- produce nonfunctional testicular and ovarian tissues in the gonads since medulla and cortex both develop.
- always produces ambiguous genitalia in both males or females
118
Androgen insensitivity syndrome
Male with 46 XY chromosomal that has female external genitalia and breasts. Caused by resistance to testosterone of the genital tubercle, labioscrotal and urethra folds.
- possesses testies in inguinal canal or abdomen usually.
- female genitalia is a blind end pouch with no uterus or uterine tubes
- usually caused by point mutations in androgen receptors and is X-linked recessive inheritance.
119
Glandular hypospadias
* Most common type of hypospadias*
| - external urethral orifice is on the ventral surface of the Glans penis.
120
Penile hypospadias
External urethral orifice is on the ventral surface of the penis body.
121
Penoscrotal hypospadias
External urethral orifice is between the unfused half’s of the scrotum
- caused by failure of the labioscrotal folds to fuse
122
What is the cause of all hypospadias?
Inadequate production of androgens by fetal testies and/or inadequate receptors
123
Epispadias
External urethral orifice is on the dorsal surface of penis
- results from improper location of genital tubercle. Produces urogenital membrane rupture and the sinus opens on the dorsal surface.
- urine is expelled at the roof of the penis in the superficial perineal pouch.
- often associated with exstrophy of the bladder
124
Agenesis of external genitalia
Results from genital tubercle to devolve and the urethra as a result opens into the perineum near the anus
125
Diphallia or bifid penis
Double penis
- results from two genital tubercles being developed
- often associated with exstrophy of the bladder
126
Micropenis
Results from failure of the fetal testies to form properly and also hypopituitarism
127
Double uterus (uterus didelphys)
Distal (inferior) parts of both paramesonephric ducts fail to fuse
- double uterus, usually double cervix and single vagina
128
Unicornuate uterus
One paramesonephric duct forms properly however the other does not develops at all or very rudimentary
- single cervix and a single vagina
129
Bicornuate uterus
Occurs when the superior-inferior portion of the paramesonephric ducts do not fuse but the inferior-most portions do (uterus portion).
- two uterus, one cervix and one vagina present
130
Septate uterus
Both paramesonephric ducts fuse however the partition/septum between them remains, producing a septum
- One uterus, two cervix and one vagina usually
- can result in two cervix and two vaginas pending on how complete the patent septum is
- almost always produces miscarriage unless fixed
131
Absence of vagina
Failure of the sinovaginal bulbs to develop and form the vaginal plate.
- usually is accompanied with an absent uterus as well since the uterus induces the formation of the sinovaginal bulbs.
132
Atresia of the vagina
Blockage of the vaginal opening caused by a failure of canalization
133
Double vagina
Distal paramesonephric ducts dont fuse and both contact the urogenital sinus. Produces two sinus tubercles that dont fuse together.
- double uterus, cervix and vaginal canals
134
Rudimentary horn uterus
One paramesonephric duct forms properly, whereas the other begins to form and then arrests suddenly idiopathically.
- usually forms a unicornate uterus with the other uterus engorging with uterine lining and unable to get rid of it. In this case would have to be surgically removed
- one uterus, 1 cervix and 1 vagina
135
Cervical atresia
No cervix forms due to the paramesonephric ducts fusing together, but not penetrating the urogential sinus properly and deteriorating.
- one uterus, no cervix and one vagina
136
Vagina atresia
Caused by the sinovaginal bulbs not forming once the paramesonephric ducts contact the urogential sinus.
One uterus, one cervix, no vagina
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Scrotal hypospadias
Labioscrotal folds dont form causing urethra opening to form on the scrotum
