1
Q
What is the SHH gene responsible for? What can mutation cause?
A
- Anterior posterior patterning at limb buds
- Holoprosencephaly
2
Q
What is the WNT7 gene responsible for?
A
Distal limb development
3
Q
Role of fibroblast growth factor in development? Mutation?
A
Limb lengthening: mutation can cause achondroplasia
4
Q
What do mutations in HOX genes cause?
A
Synpolydactyly: fingers /toes in wrong place
- Code for DNA binding TF
- Vitamin A dysregulates HOX in pregnancy
5
Q
What is egg arrested in before fertilization?
A
Metaphase of meiosis II
6
Q
What does the trophoblast become?
A
The placenta
7
Q
Vitamin deficiency causing neural tube defects?
A
Folate
8
Q
What do alar and basal plate give rise to?
A
Alar: sensory neurons (dorsal)
Basal: motor neurons (ventral)
9
Q
When is embryo most susceptible to teratogens?
A
Embryonic period: weeks 3 - 8
10
Q
When do heart and limb development begin?
A
Week 4: 4 chambers, 4 limbs
11
Q
When does gender development begin?
A
Week ten
12
Q
Derivatives of ectoderm and what do they become?
A
- Surface ectoderm: skin
- Neuroectoderm: Brain / spinal cord
- Neural crest: PNS
13
Q
What are melanocytes derived from?
A
Neural crest
14
Q
What does the mesoderm become?
A
- Muscle, bone, connective tissue, CV, lymphatics, blood, kidneys, spleen
15
Q
What does endoderm become?
A
Gut, lungs, liver, pancreas, gallbladder, thyroid, parathyroid
16
Q
What is agenesis?
A
Absent organ from absence of primordial tissue
17
Q
What is aplasia?
A
Absent organ with present primordial tissue
18
Q
Difference between deformation and malformation
A
Deform: extrinsic interruption after embryonic period
Malform: internal interruption during embryonic (3-8 weeks)
19
Q
What do aminoglycosides cause?
A
Ototoxicity
20
Q
What does cocaine cause?
A
Placental abruption
21
Q
What does Li cause?
A
Ebstein anomaly: atrialization of right ventricle
22
Q
Heparin or warfarin in pregnancy?
A
Heparin: does not cross placenta
23
Q
Presentation of fetal alcohol syndrome?
A
- Small, widely spaced eyes
- Thin upper lip
- Smooth philtrum
* ***Caused by failure of cell migration
24
Q
What does # chorions equal?
A
Number of placentas
25
Most common number of amnions / chorions in twins?
Monochorionic, diamniotic
26
What cells release Bhcg?
Syncytiotrophoblasts
27
What are the maternal and fetal components of placenta?
Maternal: decidua basalis
Fetal: Cytotrophoblasts/syncytiotrophoblasts
28
What does the allantois become?
Urachus: urine out belly button if does not close
29
What does the vitelline duct do?
Connect yolk sac to midgut lumen: poop out belly button if does not close
30
What doe the allantois and the umbilical arteries become?
Arteries: MediaL umbilical ligament
Allantois: Median umbilical ligament
31
What does 1st arch become?
Maxillary artery
32
What does 2nd arch become?
Stapedial and hyoid arteries
33
What does 3rd arch become?
Common and proximal internal carotid
34
What does fourth arch become?
Left: aortic arch
Right: Proximal right subclavian
35
What does 5th arch become?
Nothing
36
What does 6th arch become?
Ductus arteriosus and proximal pulmonary artery
37
What is a lump on side of neck that does not move when swallowing?
Branchial cleft cyst: from persistent cervical sinus derived from 2 - 4th cleft
38
What muscles does CN VII innervates?
Muscles of facial expression
39
What innervates muscles of mastication?
vIII
40
Pouches involved in digeorge syndrome?
III and IV as they develop into thyroids and parathyroids
41
Mutation seen in digeorge?
22q.11 deletion
42
What does 22q.11 deletion cause?
Digeorge
43
What results in cleft lip?
Failure of fusion of maxillary and medial nasal processes
44
What is the default genital pathway?
Female with persistence of paramesonephric / mullerian ducts
45
What do the mullerian ducts become?
Fallopian tubes, uterus, upper 1/3 vagina
46
What allows for male development?
- SRY gene on y chromosome producing testis determining factor
- Allows testis to develop creating sertoli and leydig cells
47
What secretes mullerian inhibitory factor?
Sertoli cells
48
What secretes testosterone?
Leydic cells to promote wolffian growth
49
What makes DHT?
5-alpha reductase makes this more potent testosterone from testosterone
50
What is DHT responsible for?
Prostate and male external structures
51
What do the urogenital folds become?
men: ventral shaft penis
women: labia minora
52
What is hypospadias?
Urethral opening on underside of penis
53
What is epispadias?
Urethral opening on top of penis
54
What happens when tunica vaginalis fails to fuse in man?
Risk of indirect hernia / hydrocele
55
Venous drainage of left/right ovary/testis?
Left: gonadal vein, renal vein, IVC
Right: Gonadal vein, IVC
56
Which side is varicocele more common on?
Left: left gonadal - > renal - > IVC
57
Cancer leading to varicocele?
RCC
58
Where do the ovaries and testis drain lymphatically?
Lumbar / Para aortic lymph nodes
59
Where does lymph from distal vagina, vulva, and scrotum drain?
Superficial inguinal nodes
60
What lymphatics do the clitoris and glans penis drain do?
Deep inguinal nodes
61
Where does proximal 2/3 vagina drain?
Obturator, external iliac, and hypogastric nodes
62
Consideration of cardinal ligament in hysterectomy?
Need to ligate cardinal ligament to prevent bleeding but need to be careful not to ligate ureter as it is extremely close
63
What vessels are in round ligament?
None
64
Pudendal nerve roots?
S2 - S4
65
What does the ureter pass posterior to?
Man: vas deferans
Woman: uterine artery
66
What do ovarian arteries arise from? Uterine?
Ovarian: directly from abdominal aorta
Uterine: Internal illiac
67
What needs to be ligated in hysterectomy as the suspensory ligament is cut?
Ovarian vessels
68
Where are ciliated columnar cells found in female tract?
Fallopian tubes
69
Are meta and dysplasia reversible?
Yes: neoplasia is NOT reversible
70
What of sperm?
```
"Seven UP"
Seminiferous tubules
Epididymis
Vas def
Ejaculatory ducts
Nothing
Urethra
Penis
```
71
Where do sperm mature / are stored?
Epididymis: reach full maturity in vagina with help of secretions
72
What is ligated in male sterilization?
Vas def
73
What is diagnosis for present, non motile sperm?
Kartagener
1. Situs inversus
2. Chronic respiratory infx
3. Infertility
- Mutation in dynein arm for flagella
74
What fracture damages posterior urethra?
Pelvic
75
Where does urine leak in urethral injury?
Retropubic space
76
What does NO release cause in penis?
- Increased cGMP relaxing smooth muscle
| - Increases blood flow = erection
77
Role of phosphodiesterase inhibitors in erection?
Stop breakdown on cGMP allowing erection to persist
78
Where does spermatogenesis occur?
Seminiferous tubules - takes 9 weeks
79
Where are spermatogonia found?
Line seminiferous tubules maintaining gene pool
80
Function of sertoli cells?
1. Inhibin and androgen binding protein
2. Blood testis barrier
- Protect from autoimmune attack
3. Support and nourishment
4. Mullerian inhibitory factor
81
Function of leydig cells?
1. Testosterone production
82
What does inhibin do?
Release by sertoli stopping FSH secretion
83
What do FSH and LH stimulate in males?
LH: Leydig
FSH: Sertoli
84
Negative feedback of testosterone?
LH
85
Sertoli or leydig cells impacted by temperature?
- Sertoli: sperm count will drop
| - Leydig cells produces normal testosterone with increased temp
86
What is inferior to spermatic artery?
Ureter
87
Where do ovarian vessels lie?
Suspensory ligament
88
Where do uterine vessels lie?
Cardinal ligament
89
Impact of LH in women?
Acts on theca converting cholesterol to testosterone via desmolase
90
Function of FSH in women?
On granulosa cells to convert androgen to estrogen via aromatose
91
Functions of progesterone?
1. Increasing endometrial secretions / spiral artery development
2. Decreased myometrial excitability
3. Negative FSH / LH feedback
4. Maintenance of pregnancy
92
Where are eggs arrested between birth and pregnancy?
Prophase of meiosis 1
93
Where are secondary oocytes arrested?
Metaphase II until fertilization
94
What does rising estrogen cause increase in?
LH surge causing ovulation
95
What divides follicular and luteal phase?
Ovulation
96
Length of luteal phase?
Always 14 days, follicular phase can vary
97
Hormones high in follicular and luteal phase?
Follicular: estrogen
Luteal: progesterone
98
Most common cause of irregular / heavy uterine bleeding?
Anovulation: unopposed estrogen continues to build up endometrium
99
What is happening with lactation during pregnancy?
- Prog and E2 are increasing breast growth however they inhibit prolactin
100
What regulates prolactin release from anterior pituitary?
Dopamine
101
Function of HCG?
Keep corpeus luteum functioning to secrete progesterone until placenta can create its own
102
Causes of excessively high HCG?
1. Hydatidiform mole
2. Choriocarcinoma
3. Multiple gestations
103
What is a good apgar score?
> 7,
104
Which immunoglobulin can cross placenta?
IgG
| - IgA is what is found in breast milk
105
Vitamin deficiency if exclusively breast fed?
D
106
FHS, LH, GNRH levels in menopause?
Elevated from loss of estrogen negative feedback
| ***FSH is higher than LH
107
What organs does DHT stimulate?
Penis, Scrotum, Prostate
| - Testosterone responsible for internal organs
108
What does 5-a-reductase do?
Convert testosterone to DHT
109
What does finasteride do?
Inhibits 5-a-reductase
110
What do spermatids become?
Mature spermatozoa - vira spermiogenesis
111
What leads to condyloma acuminatum?
6 / 11
112
Which are the low / high risk HPVs?
High: 16, 18, 31, 33
Low: 6, 11
***Based on DNA sequencing
113
What is lichen sclerosis?
- Thinning of epidermis and fibrosis of dermis
- Presents with leukoplakia with parchment like skin
- Benign with small risk of SCC
114
What is lichen simplex chronicus?
- Hyperplasia of vulval epithelium
- Leukoplakia w/ thick leathery skin
- From chronic irritation
- No risk of cancer
115
2 etiologies of vulvar carcinoma?
1. HPV - 16, 18, 31, 33 - younger females
| 2. Non HPV - lichen sclerosis - older females
116
What is extramammary paget's?
- Erythematous, itchy ulcerated skin on vulva
- Carcinoma in situ with NO underlying carcinoma
* **In breast means there IS cancer
117
How to tell pagets from melanoma?
Paget's: PAS +, Keratin +, S100 -
| Melanoma: PAS - / Keratin - / S100 +
118
What is the vagina derived from?
Upper 2/3: Mullerian duct
| Lower 1/3: urogenital sinus
119
What happens to vaginal lining in development?
Upper 2/3 from mullerian duct is originally columnar that is replaced by squamous migrating up from lower 1/3
120
What is adenosis? What is the risk?
- Persistence of columnar cells up upper 2/3 vagina
- Normally replaced by Squamous
- Increased risk from DES in utero
- Has increased risk of clear cell adenocarcinoma
121
What does DES lead to increased risk in?
- Adenosis progressing to clear cell adenocarcinoma
122
What is risk with DES in mother?
Breast cancer
123
Presentation of embryonal rhabdomyosarcoma?
- Bleeding grape like mass protruding from vagina or penis
| - Usually seen
124
What is the following histology indicative of:
- Cytoplasmic cross striations
- Positive IHC staining for desmin and myogen
Rhabdomyoblast cells see in rhabdomyocarcoma
125
Where do upper and lower vagina drain to?
Upper 2/3: illiac nodes
| Lower 1/3: Inguinal nodes
126
Mutations involved in high risk HPV?
E6: knocks out p53
E7: knocks out retinoblastoma
127
What does P53 do?
- Regulate G1 - S phase in cell cycle
| - Makes sure any damage is repaired before progress is allowed
128
What happens when p53 doesnt want cell to progress?
- Calls in Bax
- Bax knocks out BLC2 which was stabilizing mitochondrial membrane keeping cytochrome C inside
- Cytochrome C activates apoptosis killing cell
129
What does RB do?
- Holds E2F: when RB is phosphorylated it releases it
| allowing cell cycle to progress
130
Difference between CIS and dysplasia?
CIS is not reversible and will soon invade
131
Risk factors for cervical carcinoma?
1. HPV: most important
2. Smoking
3. Immunodeficiency: aids defining illness
132
What types of cancer does HPV cause?
1. SCC
| 2. Adenocarcinoma
133
Where does cervical cancer invade?
Through anterior uterine wall into bladder causing hydronephrosis
134
What is next step after abnormal pap?
Confirmatory colposcopy and biopsy
135
2 limitations of pap?
1. Does Not screen for adenocarcinoma
| 2. Not effective if you dont wipe transformation zone
136
What does HPV vaccination cover?
- 6, 11, 16, 18
- Lasts 5 years
- Still need paps
137
Hormonal impact on endometrium?
Grows with estrogen, prepares with progesterone, sheds with removal of P
138
What is asherman syndrome?
- Secondary amenorrhea from loss of basalis and scarring
| - Usually from over aggressive D and C
139
What is regenerative layer of endometrium?
Basalis: grows to produce functionalis which sheds with menstruation
140
What is anovulatory cycle?
- Go through proliferative phase by no ovulation occurs
- No secretory phase will occur
- Leads to dysfunctional uterine bleeding in menarche and menopause
141
What is required for diagnosis of chronic endometritis?
Plasma cell on histology
142
Which drug can cause endometrial polyp?
Tamoxifen: anti estrogen in breast but pro in uterus
143
What is adenomyosis?
Endometriosis that has involved the myometrium
144
Risk of endometriosis?
Cancer at the site it has seeded
145
What is endometrial hyperplasia?
- Hyperplasia of endometrial glands relative to stroma
due to unopposed estrogen
- Presents as postmenopausal uterine bleeding
146
Most important predictor for progression of endometrial hyperplasia to cancer?
Cellular atypia
147
2 pathways of endometrial carcinoma? Histology? Cause?
1. Hyperplasia: endometrioid histology seen
2. Sporadic: serous / papillary histology seen
- P53 mutations
- Psammoma bodies can be seen
148
2 types of cancer with psammoma bodies?
1. Mesothelioma
2. Sporadic endometrial carcinoma
3. Papillary thyroid cancer
4. Meningioma
149
What is a leiomyoma?
- Benign tumor of myometrial smooth muscle
- MULTIPLE, 2hite whorled masses
- From estrogen exposure
150
What are multiple, white whorley masses indicative of?
Leiomyoma - benign process
151
Difference in appearance between leiomyoma and leiomyosarcoma?
Leiomyoma: multiple, white whorled masses
- Pre menopause
Leiomyosarcoma: single mass with hemorrhage and necrosis
- Post menopause
152
Most common presentation of leiomyoma?
Asymptomatic
153
Do leiomyomas become sarcomas?
No, the sarcoma arises de novo
154
What does a follicle consist of?
Oocyte surrounded by granulosa and theca cells
155
Hormone impact on follicle?
1. LH causes theca to make androgen
2. FSH makes granulosa turn andro to estrodiol
3. Estradiol allows oocyte to mature
156
What happens if a follicle degenerates?
Becomes a follicular cyst
157
Hormonal characteristic of PCOD?
LH:FSH > 2
158
Why is FSH low in PCOD?
- Androgens are being converted to estrogens in fat by aromatase
- This estrione goes back to pituitary shutting down FHS
- Follicles begin to degenerate as low FSH does not allow granulosa cells to make estradiol
159
Classic presentation of PCOD?
1. Hirsutism
2. Obesity
3. Infertility
4. Oligomenorrhea
5. Insulin resistance
6. Risk of endometrial carcinoma from high circulating estrone
160
What do germ cell tumors derive from?
Oocyte
161
What do sex cord stromal tumors derive from?
1. Granulosa
2. Theca
3. Fibroblasts
162
3 categories of ovarian tumor?
1. Germ cell
2. Sex cord stromal
3. Epithelial
163
What is coelomic epithelium?
Epithelium lining the ovaries
164
2 most common types of ovarian epithelial tumors?
1. Serous
2. Mucinous
- Both are usually cystic
165
What is a cystadenoma?
- Benign ovarian tumor filled with water or mucous
- Single cyst with simple flat lining
- Usually premenopause
166
What is the following indicative of:
| - Complex cysts with thick shaggy lining
- Cystadenocarcinoma: malignant
| - Usually postmenopausal
167
What is BRCA1 risk factor for?
1. Breast cancer
| 2. Serous carcinoma of ovary and fallopian tube
168
4 types of endothelial ovarian tumors
1. Serous
2. Mucinous
3. Endometrioid
4. Brenner tumor
169
Characteristic of endometrioid ovarian tumor?
- Usually malignant
- Usually from endometriosis
- 15% have endometrial carcinoma as well
170
Cells in brenner tumor?
Urothelium
171
What is ovarian tumor with urothelium in it?
Brenner tumor
172
What is CA-125 a marker for?
- Released by surface epithelial tumors
- Can be used to monitor treatment / recurrence
* **Not useful in screening
173
Who are germ cell tumors seen in?
Reproductive age
174
Types of germ cell tumors?
1. Cystic teratoma
2. Embryonal
3. Yolk sac / endodermal sinus tumor
4. Dysgerminoma
5. Choriocarcinoma
175
How to tell if cystic teratoma is benign or malignant?
1. Immature tissue = malignant
- Often have neuroectoderm
2. Somatic malignancy = malignant potential
- IE skin tissue in tumor could have squamous cell carcinoma
176
What is struma ovarii?
- Cystic teratoma of mainly thyroid tissue that can lead to hyperthyroid
177
What is the following indicative of:
- Large cells with clear cytoplasm and central nuclei
- Elevated LDH
Dysgerminoma
| - Looks like an oocyte
178
Male equivalent of dysgerminoma?
Seminoma
179
Prognosis for dysgerminoma?
Responsive to radiotherapy
180
What is the following indicative of:
- Elevated AFP
- Schiller duval bodies - glomeruloid like structures
Yolk sac / endometrial sinus tumor
181
Tumor often seen in kids?
Yolk sac
182
Characteristics of endometrial sinus tumor?
1. Elevated AFP
2. Yolk sac like
3. Schiller duval bodies
4. Common in kids
183
Characteristics of choriocarcinoma?
1. High BHCG
2. Poor chemoresponse
3. Tropho / syncytiotrophoblasts without villi
4. Small and hemorrhagic with hematogenous spread
- Placental cells are naturally programmed to find vessels
184
Presentation of granulosa / theca tumor?
- Estrogen production and signs of that excess
185
Characteristics of sertoli leydig tumor?
- Reinke crystals
- Sertoli cells forming tubules
- Hirsutism and virilization
186
What are reinke crystals indicative of?
Sertoli leydig tumor
187
Presentation of ovarian fibroma?
Meigs syndrome:
1. Pleural effusion
2. Ascites
188
What is a krukenberg tumor?
- Mucinous carcinoma that spreads to both ovaries
| - Usually diffuse gastric carcinoma
189
Characteristic cell of diffuse gastric carcinoma?
Signet ring cell: nucleus pushed to one side because cell is full of mucus
190
What causes pseudomyxoma peritonei?
- Mucinous carcinoma of the appendix
- Makes abundant mucus in peritoneum
- Also spreads to ovary
191
Risk factors for ectopic?
Scarring from:
1. PID
2. Endometriosis
192
Causes of spontaneous abortion?
1. Chromosomal abnormalities
2. Hypercoagulable state
3. Congenital infection
4. Teratogens
193
What is placenta previa?
"preview of the placenta"
- Has inserted near the cervical OS
- 3rd trimester bleeding
- Requires C-section so baby doesn't compress placental blood supply as it moves through canal
194
What is placental abruption?
- Placenta separates from decidua prior to delivery
- 3rd semester bleeding
- Still birth
195
What is placenta accreta?
- Direct implantation of placenta into myometrium
| - Inability to deliver placenta often resulting in hysterectomy
196
To what layer does the placenta attach?
Decidua
197
What is preeclampsia?
Pregnancy induced:
1. Hypertension
2. Proteinuria
3. Edema
* *Caused by problem with placenta vascular interface
198
What is fibrinoid necrosis of vessels in placenta associated with?
Preecplampsia
199
What is eclampsia?
- Preeclampsia + seizures
200
What is HELLP?
Preeclampsia + :
- Hemolysis
- Elevated Liver enzymes
- Low Platelets
* Arises from small thrombi in liver vasculature
201
What increases risk of SIDs?
1. Smoking
2. Prematurity
3. Sleeping on stomach
202
What are swollen and edematous villi with proliferation of trophoblasts indicative of?
- Hydatidiform mole
203
Presentation of mole?
- Uterus larger than should be for date
- BHCG higher than should be for date
- Passage of grape like masses in second trimester: swollen villi
204
What is snow storm appearance on ultrasound indicative of?
- Mole
205
Genetic composition of complete v. partial mole?
Complete: 46 chromosomes
Partial: 69 chromosomes
206
Which mole shows fetal tissue?
Partial
207
Which mole demonstrates greater villous edema?
Complete
208
Which mole has greater trophoblastic proliferation?
Complete
209
Which mole has risk for choriocarcinoma?
Complete
210
What secretes bHCG?
Syncytiotrophoblasts
211
How do pathways of choriocarcinoma respond to chemo?
Gestational (mole): well
| Germ Cell tumor: poor
212
Cause of hypospadias?
- Failure of urethral folds to close
| - On lower side of penis
213
Cause and association of hypospadias?
- Abnormal position of genital tubercle
| - Associated with bladder exstrophy
214
What is lymphogranuloma venereum?
- Necrotizing granulomatous inflammation of inguinal lymphatics and lymph nodes
- Caused by chlamydia trachomatis
- Causes fibrosis that can lead to rectal strictures
215
What bowen's disease?
CIS in shaft of penis that can lead to SCC
216
What is cryptorchidism?
Failure of tisticle to descend from abdomen to scrotum
217
What is the cremasteric reflex and when is it absent?
- Scrotum rises when scrape inner thigh
| - Testicular torsion
218
What is hydrocele associated with?
- Incomplete closure of processus vaginalis
| - Blockage of lymphatic drainage
219
What is a seminoma equivalent to?
Dysgerminoma
220
How are germ cell tumors divided in males?
1. Seminoma
| 2. Nonseminoma
221
Characteristics of seminoma?
- Chemo responsive
- Late metastasis
- Large cells with clear cytoplasm and central nuclei
- Can release HCG
- Homogenous mass no hemorrhage or necrosis
222
Characteristics of male embryonal carcinoma?
- Immature cells that may form glands
- Hemorrhage and necrosis
- Aggressive with hematogenous spread
- Increased AFP / HCG
223
Most common testicular tumor in kids? What is elevated?
- Yolk sac
| - AFP
224
Which tumor is AFP classically elevated in?
- Yolk sac
225
Difference between teratoma in males and females?
Benign in females, malignant in males
226
What to think if testicular mass in > 60yo?
Diffuse large B cell lymphoma
227
Presentation of acute prostatitis?
1. Pain on urination
2. Fever
3. Chills
228
What is risk for cancer in BPH?
None
229
Where does BPH occur?
Periurethral zone of prostate
230
What is hydronephrosis?
- Dilation of kidney and ureter from backup of fluid
| - Can occur in BPH
231
Where does prostate cancer appear?
- Posterior
| - Does not produce urinary symptoms because of this leading to late presentation
232
What is the grading scale for prostate cancer?
"Gleason grading scale"
| - Based solely on architecture with atypia not a factor
233
Where does prostate cancer like to spread?
- Lumbar spine with osteoblastic metastasis
| - Low back pain with increased alk phos
234
What does alkaline phosphatase indicated?
Osteoblastic activity
235
What is leuprolide?
GNRH agonist that will shut down HPA decreasing DHT cancer is dependant on
236
Most common cause of nipple discharge of blood?
Intraductal papilloma
237
What can a uniformly enlarged uterus be indicative of?
1. Molar pregnancy
| 2. Adenomyosis
238
Another name for leiomyomas?
Fibroids
239
Do leiomyomas enlarge the uterus?
Yes but irregularly
240
What is needed to treat PID?
Coverage of both:
1. Gonorrhea: 3rd generation cephalo
2. Chlamydia: azythro or doxy
241
What does tetracycline cause in fetus?
Teeth staining
242
What does chloramphenicol cause in fetus?
Gray baby syndrome
243
What doe TMP sulfate cause in babies?
Neural tube defects
244
What do aminoglycosides cause in fetus?
Ototoxicity
245
What does valproate cause in pregnancy?
Neural tube defects
246
Another name for measles and german measles?
Measles: rubeola
German: rubella
247
Rubella presentation in adult?
Polyarthralgia
248
Rubella presentation in kid?
1. Deaf
2. Cataracts
3. Heart malformations
249
What happens to urethral folds in women?
Do not fold forming labia minor - Hypospadias if dont fuse in male
250
What does low serum AFP mean?
Trisomies
251
What does elevated AFP mean?
1. Neural tube defects
2. Ventral wall defects
3. Multiple gestations
252
In utero lab values in downs?
- Low AFP
- Low unconjugated Estriol
- Increased HCG
- Increased inhibin
253
What causes syphilis?
Treponema pallidum
254
Diagnosis of syphilis?
Darkfield microscopy
255
What is given to mimic LH surge in fertility therapy?
HCG
256
What is menotropin?
Given in fertility therapy to mimic FSH and stimulate follicle
257
What is the following indicative of:
- Purulent vaginal discharge
- Friable cervix with easy bleeding
Gonococcal cervicitis
258
Diagnosis of gonorrhea?
DNA amplification
259
What is cholelithiasis and who is it most common in?
Gallstones: "Fat, fertile, female, forty"
260
What causes gallstones in pregnant ladies?
Estrogen: cholesterol hypersecretion
Progesterone: gallbladder hypomotility
261
What is the egg arrested in prior to fertilization?
Metaphase of meiosis II
262
Where are eggs arrested prior to ovulation?
Prophase Meiosis I
263
3 ways DS occurs?
1. Nondisjunction: trisomy
2. Unbalanced translocation
3. Mosaicism
264
What can a germ cell tumor secrete causing signs of hyperthyroid?
HCG has same beta subunit as TSH
265
What do kegels strengthen?
Levator ani muscle of the pelvic floor
266
Turners presentation?
1. Streak gonad
2. Shield chest
3. CV abnormalities: bicuspid / coarct
4. Webbed neck
5. Short stature
6. Horseshoe kidney
7. Low ears and hairline
267
Epithelial cells in ovary?
Cuboidal
268
Where are call exner bodies seen?
Granulosa cell tumors - "cuboidal cells in sheets with gland like structures"
269
Do you ligate the ovarian ligament or suspensory ovarian ligament?
Suspensory
270
Where does the milk line run?
From the vulva to the axilla: breast tissue and pathology can hence happen anywhere along this line
271
What is functional unit of breast?
Terminal duct lobular unit: lobules make milk which drain via duct to nipple
272
Two layers of epithelium in TDLU?
1. Luminal layer: innermost
| 2. Myoepithelial: muscle squeezing duct to propel milk
273
Is galactorrhea sign of breast cancer?
No, usually from drugs, prolactinoma, or stimulation
274
Normal cause of acute mastitis?
Staph aureus during breast feeding
275
Common cause of periductal mastitis?
- Specialized luminal epithelium requires vit A
- Smoking leads to deficit so cannot maintain leading to squamous metaplasia
- Squamous produces keratin plugging ducts = inflammation
- Leads to mass in subareolar region
276
Presentation of periductal mastitis?
- Lump in areolar region from keratin block
| - Fibrin and fibroblasts released for healing = contraction of nipple as myos pull in
277
What is mammary duct ectasia?
- Inflammation of wall of subareolar duct = dilation
- Leads to brown / green nipple discharge
- Mass can be felt as well
* **Usually seen in postmenopausal women
278
What is green brown nipple discharge characteristic of?
- Mammary duct ectasia - mass in postmenopausal women that IS NOT cancerous
279
Presentation of fat necrosis?
- Mass on exam of calcification on mammogram from saponification and giant cells
280
Cause of fibrocystic change?
- Rise and fall of progesterone levels over time
281
What is the most common change in premenopausal women?
- Fibrocystic change with lumpy breast in upper/outer quadrant
282
What is cystis with blue domed appearance indicative of?
Fibrocystic change
283
Types of fibrocystic change and risk for cancer?
1. Fibrosis, cysts, apocrine metaplasia: 0
2. Ductal hyperplasia w/ sclerosing adenosis: 2x
- Often calcified
3. Atypical hyperplasia: 5x (both breasts)
- Ductal or lobular
* ***Not that these are future risk for cancers not that she currently has them
284
Apocrine metaplasias risk for cancer?
Zero
285
What is intraductal papilloma?
- Normal epithelial and myo layers but has formed papillary projection into duct that often bleeds in nipple
- Premenopausal
* **If carcinoma no myoepithelial cells
286
What is most common tumor in premenopausal women?
Fibroadenoma - benign neoplasm
287
Characteristics of fibroadenoma?
- Tumor of tissues and glands
- Benign neoplasm in premenopause
- Well circumscribed marble like mass that is estrogen sensitive
- Grow and change in pregnancy, menopause, menstrual cycle
288
Risk of cancer in fibroadenoma?
None
289
What is a phyllodes tumor?
- Fibroadenoma with overgrowth of fibrous part in leaf like projections
* *Can be malignant unlike normal fibroadenoma
- Post menopause
290
Breast common stats in women?
- #1 cause cancer in women
| - #2 cause of death
291
How is DCIS usually detected?
- Too small for mass
| - Calcification on mammogram
292
Benign breast changes with fat necrosis?
1. Fat necrosis (saponification)
| 2. Sclerosing adenosis (2x risk cancer)
293
What is paget disease of nipple?
- DCIS that has climbed up duct to nipple
- Presents with nipple ulceration and erythema
- Always underlying carcinoma
294
Benign cause of nipple retraction?
Periductal mastitis
295
What is desmoplastic stroma indicative of?
Invasive ductal carcinoma
296
Epithelial layers indicative of breast cancer?
Normally the TDLU has 2 cell types, in cancer it will only have one
297
Cancer characterized by cells in dermal lymphatics?
Inflammatory breast cancer
298
Who is medullary carcinoma of breast more common in?
BRCA1 mutations
299
What is dyscohesive cells lacking E cadherin indicative of?
LCIS - E cadherin is usually holding the cells together
300
Treatment of LCIS?
Tamoxifen with close follow up as is a risk factor for invasive carcinoma
301
Appearance of invasive lobular carcinoma?
- Grow in single file pattern as lack E-cadherin
| - DO NOT form duct like structure
302
Most important factor for breast cancer prognosis?
- Metastasis
| * ***Hard to detect so spread to axilla is most important
303
What is sentinel node biopsy?
- Assesses axillary nodes for spread of breast cancer
| - Inject blue dye in breast and follow where it goes
304
3 predictive factors in breast cancers response to treatment?
1. ER - tamoxifen response (antiestrogenic)
2. PR - tamoxifen response
3. HER2/Neu - trastuzimab
305
What indicates tumor responsive to trastuzumab?
Her2/neu positive
306
What indicates tumor responsive to tamoxifen?
ER/PR+
307
What does BRCA1 put you at first for?
1. Invasive medullary breast cancer
- Other breast cancers as well
2. Ovarian cancer
308
Mutation in breast cancer in Males?
BRCA2
309
Klinefelter genotype? Cause?
- 47XXy occurring from non disjunction
| - One usually becomes bar body
310
Presentation of klinefelter?
1. Tall
2. Long limbs
3. Developmental delay - learning and behavior
4. Gynecomastia
5. Feminine
6. Euchenoid body appearance
7. Dystrophic seminiferous tubules as sertoli dont make inhibin
8. Cryptorchidism and infertility
311
What causes marfan?
- Defect in fibrillin gene
312
Serology in klinefelter's?
- Sertolis not secreting inhibin = increased FSH
- Leydig deficient in testosterone = increased LH
- Increased E : T ratio
313
Genotype in turner?
45 XO
314
Turner presentation?
1. Short
2. Shield chest
3. Web neck
4. Pre ductal Coarcted / bicuspid aorta
5. Ovarian dysgenesis
6. Cystic hygroma - neck mass
7. Streak ovary: low E, high FSH / LH
* Most common cause primary amenorrhea
315
Why is turner so short?
Only one copy of SHOX gene which is responsible for long bone growth
316
Difference in primary and secondary amenorrhea?
Primary: never had period
Secondary: had period then stopped
317
What is female hermaphrodite? Cause?
- XX genotype
- External external genitalia or male like
- Testosterone exposure of CAH
318
Why do you have female external sexual characteristics in androgen insensitivity?
Testis produce some estrogen which is now unopposed since body cannot respond to angrogens
319
What happens in 5-a-reductase deficiency?
- Cannot convert T to DHT
- Abnormal male externals until puberty
- Normal T and maybe increased LH
320
What is kallmann syndrome?
- Low GNRH from failed migration
- Defect in brain is next to smell center so have anosmia
- Delayed or absent puberty: micro penis
- Lack of secondary characteristics
321
Difference in bleeding in placenta abrupta and previa?
Abrupta is painful, previa is not
322
What does double bubble sign indicate?
Duodenal atresia
323
Hormone ration diagnostic of PCOD?
LH:FHS > 3
324
Most common cause of anovulation?
PCOS
325
Marker to monitor ovarian cancer?
Ca-125
326
What are call exner bodies indicative of?
Granulosa cell tumor
| "you need to call your granny"
327
Presentation of leiomyoma?
- Estrogen sensitive, abnormal bleeding in younger women
- Whorled appearance
- DO NOT move to sarcoma
328
Treatment for fibroadenoma of breast?
Not malignant, give reassurance
329
What is elevated placental alk phos indicative of?
Seminoma
330
What causes insulin resistance in pregnancy?
- HpL: human placental lactogen
| - Mother is wanting to increase free glucose for baby and this helps
331
What does HpL cause?
Increased insulin resistance during pregnancy / gestational diabetes
332
What is mifepristone?
Progesterone antagonist that can be used in abortion
333
What is misoprostol?
PGE1 analogs causing cervical softening and uterine contractions that can be used in abortion or to induce pregnancy
334
Where are the sertoli cells found?
Within the seminifarous tubules
335
What does inhibin regulate?
- Decreases FSH
| - Produced by sertoli cells in seminiferous tubules which are heat sensitive
336
Clotting factor status in pregnancy?
Increased VII, VIII, X, VwF to prevent bleeding
337
Protective factors for ovarian cancer?
1. Multiparity
2. Breast feeding
3. Oral contraceptives
338
Where is narrow high arched palate seen?
Turner
339
Does adenomyosis lead to infertility and painful sex?
Yes
340
Blood supply to uterus?
- Uterine arteries off the internal iliac
| - If ligated blood flow maintained from collateral circulation from ovarian
341
Is HSV 2 lesion painful?
Yes - mulitple lesions
342
Is Syphilis lesion painful?
No - usually single lesion
343
Common bacteria in septic abortion?
Staph
344
2 bugs implicated in PID?
1. Gonorrhea
| 2. Chlamydia
345
How does prostate cancer spread to spine?
Vertebral venous plexus
346
Artery at risk of being cut in opening rectus abdominus?
Inferior epigastric
USMLE: step 1
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