Reproductive Flashcards

1
Q

Sonic hedgehog gene

A

Produced at base of limbs in zone of polarizing activity
patterning along anteroposterior axis and CNS development
Holoprosencephaly

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2
Q

Wnt-7 gene

A

Produced at apical ectodermal ridge

Organization along dorsal-ventral axis

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3
Q

FGF gene

A

Produced at apical ectodermal ridge

Stimulates mesoderm: lengthening of limbs

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4
Q

Homeobox (Hox) genes

A

Segmental organization of embryo in a craniocaudal direction.

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5
Q

Surface ectoderm becomes

A

Epidermis; adenohypophysis (from Rathke pouch); lens of eye; epithelial linings of oral cavity, sensory organs of ear, and olfactory epithelium; anal canal below the pectinate line; parotid, sweat, mammary glands

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6
Q

Neural tube becomes

A

(Ectoderm)

Brain (neurohypophysis, CNS neurons, oligo- dendrocytes, astrocytes, ependymal cells, pineal gland), retina, spinal cord

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7
Q

Neural crest become

A

(ectoderm)
PNS (dorsal root ganglia, cranial nerves, autonomic ganglia, Schwann cells), melanocytes, chromaf n cells of adrenal medulla, parafollicular (C) cells of thyroid, pia and arachnoid, bones of the skull, odontoblasts, aorticopulmonary septum, endocardial cushions, myenteric (Auerbach) plexus

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8
Q

Mesoderm becomes

A

Muscle, bone, connective tissue, serous linings of body cavities (eg, peritoneum), spleen (derived from foregut mesentery), cardiovascular structures, lymphatics, blood, wall of gut tube, upper vagina, kidneys, adrenal cortex, dermis, testes, ovaries

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9
Q

Neuroectoderm becomes

A

Neural plate; Induced by notochord from ectoderm

Nucleus pulposus of the intervertebral disc

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10
Q

Endoderm becomes

A

Gut tube epithelium (including anal canal above the pectinate line), most of urethra and lower vagina (derived from urogenital sinus), luminal epithelial derivatives (eg, lungs,
liver, gallbladder, pancreas, eustachian tube, thymus, parathyroid, thyroid follicular cells)

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11
Q

Effect of ACE inhibitors on a fetus

A

Renal damage

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12
Q

Effect of alkylating agents on a fetus

A

Absence of digits, multiple anomalies

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13
Q

Effect of diethylstilbestrol on a fetus

A

Vaginal clear cell adenocarcinoma, congenital Müllerian anomalies

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14
Q

Effect of methimazole on a fetus

A

Aplasia cutis congenita

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15
Q

Effect of thalidomide on a fetus

A

Limb defects (phocomelia, micromelia— “fipper” limbs)

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16
Q

Effect of cocaine on a fetus

A

Low birth weight, preterm birth, IUGR, placental abruption

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17
Q

Effect of smoking on a fetus

A

Low birth weight, preterm labor, placental problems, IUGR, SIDS

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18
Q

FAS

A

Pre- and postnatal developmental retardation, microcephaly, facial abnormalities (eg, smooth philtrum, thin vermillion border, small palpebral fissures), limb dislocation, heart defects
Failure of cell migration

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19
Q

Syncytiotrophoblast

A

Outer layer of chorionic villi; synthesizes and secretes hormones

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20
Q

Umbilical cord

A
Umbilical arteries (2): return deox blood from fetal internal iliac a to placenta
Umbilical vein (1): supplies ox blood from placenta to fetus; drains into IVC via liver or via ductus venosus
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21
Q

What are umbilical arteries and vein derived from?

A

Allantois

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22
Q

Patent urachus

A

Total failure of urachus to obliterate → urine discharge from umbilicus

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23
Q

Urachal cyst

A

Partial failure of urachus to obliterate; fluid- filled cavity lined with uroepithelium, between umbilicus and bladder

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24
Q

Vesicourachal diverticulum

A

Slight failure of urachus to obliterate → outpouching of bladder

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25
Vitelline duct
connects yolk sac to midgut lumen
26
Vitelline stula
Vitelline duct fails to close → meconium discharge from umbilicus
27
Meckel diverticulum
Partial closure of vitelline duct, with patent portion attached to ileum Melena, hematochezia, abdominal pain
28
Derivatives of 1st aortic arch
Part of maxillary artery (branch of external carotid) | 1st is MAXimal
29
Derivatives of 2nd aortic arch
Stapedial artery and hyoid artery | Second = Stapedial
30
Derivatives of 3rd aortic arch
Common Carotid artery and proximal part of internal Carotid artery (C is 3rd letter)
31
Derivatives of 4th aortic arch
On left, aortic arch | On right, proximal part of right subclavian artery
32
Derivatives of 5th aortic arch
Proximal part of pulmonary arteries and (on left only) ductus arteriosus
33
Pierre Robin sequence
Abnormal development of 1st arch | Micrognathia, glossoptosis, cleft palate, airway obstruction
34
Treacher Collins syndrome
Abnormal development of 1st arch | Neural crest dysfunction: mandibular hypoplasia, facial abnormalities
35
Derivatives of 1st brachial pouch
Middle ear cavity, eustachian tube, mastoid air cells
36
Derivatives of 2nd brachial pouch
Epithelial lining of palatine tonsil
37
Derivatives of 3rd brachial pouch
Dorsal wings: inferior parathyroids | Ventral wings: thymus
38
Derivatives of 4th brachial pouch
Dorsal wings: superior parathyroids Ventral wings: 1. ultimobranchial body 2. parafollicular (C) cells of thyroid
39
DiGeorge syndrome
``` Chromosome 22q11 deletion Aberrant development of 3rd and 4th pouches T-cell deficiency (thymic aplasia) and hypocalcemia (no parathyroid development) Cardiac defects (conotruncal anomalies) ```
40
Cleft lip
failure of fusion of the maxillary and medial nasal processes (formation of 1° palate)
41
Cleft palate
Failure of fusion of the two lateral palatine shelves or failure of fusion of lateral palatine shelves with the nasal septum and/or median palatine shelf (formation of 2° palate)
42
Default embryologic genital development
Female | Mesonephric duct degenerates and paramesonephric duct develops
43
Development of male genitalia
- SRY gene on Y: testis- determining factor - Sertoli cells secrete Müllerian inhibitory factor: suppresses development of paramesonephric ducts - Leydig cells secrete androgens that stimulate development of mesonephric ducts
44
Paramesonephric (Müllerian) duct development in female
Internal structures: fallopian tubes, uterus, upper portion of vagina (lower portion from urogenital sinus)
45
Paramesonephric (Müllerian) duct development in males
Appendix testis
46
Mayer-Rokitansky- Küster-Hauser syndrome
Müllerian agenesis 1° amenorrhea (lack of uterine development) in females with fully developed 2° sexual characteristics (functional ovaries)
47
Mesonephric (Wolffian) duct in males becomes
Internal structures (except prostate): Seminal vesicles, Epididymis, Ejaculatory duct, Ductus deferens (SEED)
48
Mesonephric (Wolffian) duct in females becomes
Gartner duct
49
XY with dysfunction of Sertoli cells or MIF
Develop both male and female internal genitalia and male external genitalia
50
5α-reductase deficiency
Inability to convert testosterone into DHT: male internal genitalia, ambiguous external genitalia until puberty (↑ testosterone: masculinization)
51
Bicornuate uterus
Incomplete fusion of Müllerian duct
52
Uterus didelphys
Complete failure of fusion: double uterus, cervix, vagina
53
Gubernaculum remnant in males and females
Males: Anchors testes within scrotum Females: Ovarian ligament + round ligament of uterus
54
Venous drainage of gonads
Left ovary/testis → left gonadal vein→ left renal vein → IVC | Right ovary/testis → right gonadal vein → IVC
55
What structures drain to the para-aortic lymph nodes?
ovaries/testes
56
What structures drain to the external iliac nodes?
Body of uterus/cervix/superior bladder
57
What structures drain to the internal iliac nodes?
Body of prostate/cervix/corpus cavernosum/proximal | vagina
58
What structures drain to the superficial inguinal nodes?
Body of distal vagina/ vulva/scrotum/distal anus
59
What structures drain to the deep inguinal nodes?
Glans penis
60
Infundibulopelvic ligament
aka suspensory ligament of the ovary Connects: ovaries to pelvic wall Contains: ovarian vessels Ureter courses close behind
61
Cardinal ligament
Connects: cervix to side wall of pelvis Contains: uterine vessels
62
Round ligament of the uterus
Connects: Uterine fundus to labia majora Derivative of gubernaculum Travels through round inguinal canal; above the artery of Sampson
63
Broad ligament
Connects: uterus, fallopian tubes, and ovaries to pelvic side wall Contains: ovaries, fallopian tubes, round ligaments of uterus Is a fold of the peritoneum
64
Ovarian ligament
Connects: medial pole of ovary to lateral uterus
65
Pathway of ejaculation
``` SEVEN UP: Seminiferous tubules Epididymis Vas deferens Ejaculatory ducts (Nothing) Urethra Penis ```
66
Autonomic innervation of the male sexual response
Erection: PSNS Emission: SNS (hypogastric nerve) Ejaculation: visceral and somatic nerves (pudendal nerve)
67
Spermatogonia
Germ cells Line seminiferous tubules Germ cell pool and produce 1° spermatocytes
68
Sertoli cells produce what?
Secrete inhibin B: inhibit FSH Secrete androgen-binding protein: maintain local levels of testosterone Produce MIF
69
What isolates gametes | from autoimmune attack?
Tight junctions between adjacent Sertoli cells | forming blood-testis barrier
70
Functions of sertoli cells?
Support and nourish developing spermatozoa | Regulate spermatogenesis
71
Function of leydig cells?
Secrete testosterone in the presence of LH
72
Ovulation
↑ estrogen, ↑ GnRH receptors on anterior pituitary | Estrogen surge then stimulates LH release: ovulation
73
What does APGAR stand for?
Appearance, Pulse, Grimace, Activity, Respiration
74
Definition of low birth weight
< 2500 g
75
Definition of menopause
amenorrhea for 12 months
76
Timeline of menopause
Amenorrhea for 12 months Average age at onset is 51 years (earlier in smokers) Preceded by 4–5 years of abnormal cycles
77
Hormonal changes seen in menopause
↓ estrogen, ↑↑ FSH, ↑ LH (no surge), ↑ GnRH
78
What causes aneuploidy?
Most commonly due to meiotic nondisjunction
79
Klinefelter syndrome
Testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution Dysgenesis of seminiferous tubules: ↓ inhibin B leads to ↑ FSH Abnormal Leydig cell function: ↓ testosterone -> ↑ LH -> ↑ estrogen
80
Turner syndrome
Short stature, ovarian dysgenesis (streak ovary), shield chest, bicuspid aortic valve, coarctation, lymphatic defects (result in webbed neck or cystic hygroma; lymphedema in feet, hands), horseshoe kidney Menopause before menarche
81
Placental aromatase deficiency
Inability to synthesize estrogens from androgens Masculinization of female infant Maternal virilization during pregnancy
82
Androgen insensitivity syndrome
Defect in androgen receptor resulting in normal-appearing XY female; female external genitalia w/ functioning testes
83
5α-reductase de ciency
Ambiguous genitalia until puberty
84
Kallmann syndrome
Failure to complete puberty; a form of hypogonadotropic hypogonadism Defective migration of GnRH-releasing neurons
85
Choriocarcinoma
Malignancy of trophoblastic tissue; no chorionic villi present Hematogenous spread to lungs: “cannonball”metastases
86
Placental abruption
Premature separation of placenta from uterine wall before delivery Painful bleeding
87
Placenta accreta
Placenta attaches to myometrium without penetrating it; most common type
88
Placenta increta
placenta penetrates into myometrium
89
Placenta percreta
placenta penetrates (“perforates”) through myometrium and into uterine serosa (invades entire uterine wall);
90
Placenta previa
Attachment of placenta to lower uterine segment over (or < 2 cm from) internal cervical os Painless bleeding
91
Vasa previa
Fetal vessels run over, or in close proximity to, cervical os
92
Postpartum hemorrhage
Tone (uterine atony; most common) Trauma (lacerations, incisions, uterine rupture) Thrombin (coagulopathy) Tissue (retained products of conception)
93
Gestational hypertension
BP > 140/90 mm Hg after 20th week
94
Treatment of gestational HTN
Hydralazine, α-Methyldopa, Labetalol, Nifedipine; deliver by week 37-39
95
Preeclampsia
New-onset hypertension with either proteinuria or end-organ dysfunction after 20th week of gestation
96
Cause of preelampsia
Caused by abnormal placental spiral arteries: endothelial dysfunction, vasoconstriction, ischemia
97
Eclampsia
Preeclampsia + maternal seizures
98
HELLP syndrome
Hemolysis, Elevated Liver enzymes, Low Platelets. D/t severe preeclampsia Schisotcytes
99
Gynecologic tumor epidemiology
In US: endometrial > ovarian > cervical | Worldwide: cervical
100
Sarcoma botryoides
Embryonal rhabdomyosarcoma Girls < 4 years old; spindle-shaped cells; desmin ⊕ Presents with clear, grape-like, polypoid mass emerging from vagina
101
HPV genes
E6 gene product (inhibits p53 suppressor gene) | E7 gene product (inhibits RB suppressor gene)
102
Serous cystadenoma
Benign ovarian neoplasm; most common | Lined with fallopian tube–like epithelium
103
Mucinous cystadenoma
Benign ovarian neoplasm Multiloculated, large Lined by mucus-secreting epithelium
104
Endometrioma
Endometriosis within ovary with cyst formation | Chocolate cyst
105
Mature cystic teratoma
Germ cell tumor, most common ovarian tumor in females 10–30 years old Contains elements from all 3 germ layers
106
Brenner tumor
Looks like bladder Solid tumor that is pale yellow-tan and appears encapsulated Coffee bean” nuclei on H&E
107
Fibromas
Bundles of spindle-shaped fibroblasts
108
Meigs syndrome
triad of ovarian broma, ascites, hydrothorax
109
Thecoma
Like granulosa cell tumors, may produce estrogen | Abnormal uterine bleeding in a postmenopausal woman
110
Granulosa cell tumor
Malignant ovarian neoplasm Women in their 50s Call-Exner bodies (granulosa cells arranged haphazardly around collections of eosinophilic fluid, resembling primordial follicles)
111
Serous cystadenocarcinoma
Malignant ovarian neoplasm Most common malignant ovarian neoplasm, frequently bilateral Psammoma bodies
112
Mucinous cystadenocarcinoma
Malignant ovarian neoplasm | Pseudomyxoma peritonei–intraperitoneal accumulation of mucinous material from ovarian or appendiceal tumor
113
Immature teratoma
Malignant ovarian neoplasm Aggressive, contains fetal tissue, neuroectoderm Immature/embryonic-like neural tissue
114
Dysgerminoma
Most common in adolescents Equivalent to male seminoma but rarer Sheets of uniform “fried egg” cells hCG, LDH: tumor markers
115
Yolk sac (endodermal sinus) tumor
Malignant ovarian neoplasms Aggressive, in ovaries or testes and sacrococcygeal area in young children Yellow, friable (hemorrhagic), solid mass 50% have Schiller-Duval bodies (resemble glomeruli) AFP = tumor marker
116
Krukenberg tumor
GI malignancy that metastasizes to ovaries | Mucin-secreting signet cell adenocarcinoma
117
Endometrial polyp
Well-circumscribed collection of endometrial tissue within uterine wall Painless abnormal uterine bleeding
118
Adenomyosis
Extension of endometrial tissue (glandular) into uterine myometrium; hyperplasia of basal layer of endometrium Presents with dysmenorrhea, menorrhagia, uniformly enlarged, soft, globular uterus
119
Asherman syndrome
Adhesions and/or brosis of the endometrium
120
Leiomyoma (fibroid)
Multiple discrete tumors Benign smooth muscle tumor Estrogen sensitive Whorled pattern of smooth muscle bundles with well-demarcated borders
121
Endometrial hyperplasia
Usually caused by excess estrogen stimulation | ↑ risk for endometrial carcinoma
122
Endometrial carcinoma
Most common gynecologic malignancy | Presents with vaginal bleeding
123
Endometritis
Associated with retained products of conception following
124
Endometriosis
Non-neoplastic endometrium-like glands/stroma outside endometrial cavity
125
Fibrocystic changes in breast
Present with premenstrual breast pain or lumps; often bilateral and multifocal
126
Sclerosing adenosis
Type of fibrocystic change | Acini and stromal brosis, associated with calci cations
127
Epithelial hyperplasia of breast
Type of fibrocystic change Cells in terminal ductal or lobular epithelium ↑ risk of carcinoma with atypical cells
128
Fat necrosis of breast
Benign, usually painless, lump due to injury to breast tissue Necrotic fat and giant cells on biopsy
129
Lactational mastitis
S aureus is most common pathogen | Treat with antibiotics and continue breastfeeding
130
Fibroadenoma
Small, well-de ned, mobile mass; benign | Estrogen sensitive
131
Intraductal papilloma
Small papillary tumor within lactiferous ducts, typically beneath areola; benign Most common cause of nipple discharge
132
Phyllodes tumor
Large mass of connective tissue and cysts with “leaf-like” lobulations
133
Ductal carcinoma in situ
Noninvasive, malignant tumor Fills ductal lumen Early malignancy without basement membrane penetration
134
Comedocarcinoma
Noninvasive, malignant tumor | Ductal, central necrosis
135
Paget disease
Results from underlying DCIS or invasive breast cancer Eczematous patches on nipple Paget cells: intraepithelial adenocarcinoma cells
136
Invasive ductal carcinoma
Invasive, malignant tumor Firm, brous, “rock-hard” mass with sharp margins and small, glandular, duct-like cells Can deform suspensory ligaments: dimpling of skin “Stellate” in ltration Most common (∼ 75% of all breast cancers)
137
Invasive lobular carcinoma
Invasive, malignant tumor | Orderly row of cells (“single file"); ↓ E-cadherin expression
138
Medullary carcinoma
Invasive, malignant tumor Fleshy, cellular, lymphocytic infiltrate Good prognosis
139
Inflammatory breast cancer
Invasive, malignant tumor Dermal lymphatic invasion by breast carcinoma Peau d’orange Poor prognosis
140
Peyronie disease
Abnormal curvature of penis due to fibrous plaque within tunica albuginea
141
Bowen disease
Precursor in situ lesion of penile SCC | Presents as leukoplakia in penile shaft
142
Erythroplasia of Queyrat
Precursor in situ lesion of penile SCC | cancer of glans, presents as erythroplakia
143
Bowenoid papulosis
Presents as reddish papules
144
Cryptorchidism
Undescended testis | ↓ inhibin B, ↑ FSH, ↑ LH; ↓ testosterone in bilateral
145
Testicular torsion
Rotation of testicle around spermatic cord and vascular pedicle Acute, severe pain, high-riding testis, and absent cremasteric reflex
146
Varicocele
Dilated veins in pampiniform plexus due to ↑ venous pressure | “Bag of worms” on palpation; augmented by Valsalva
147
Congenital hydrocele
Incomplete obliteration of processus vaginalis | Transilluminating swelling
148
Spermatocele
Cyst due to dilated epididymal duct or rete testis
149
Seminoma
Testicular germ cell tumor Malignant; painless, homogenous testicular enlargement; most common Large cells in lobules with watery cytoplasm and “fried egg” appearance Similar to dysgerminoma in females
150
Yolk sac (endodermal sinus) tumor
Testicular germ cell tumor Yellow, mucinous Aggressive malignancy of testes, analogous to ovarian yolk sac tumor Schiller- Duval bodies resemble primitive glomeruli ↑ AFP
151
Choriocarcinoma
Testicular germ cell tumor Malignant, ↑ hCG Disordered syncytiotrophoblastic and cytotrophoblastic elements Hematogenous metas to lungs and brain
152
Embryonal carcinoma
Testicular germ cell tumor Malignant, hemorrhagic mass with necrosis; painful Glandular/papillary morphology
153
Leydig cell non–germ cell tumor
Golden brown color; contains Reinke crystals (eosinophilic cytoplasmic inclusions) Produces androgens or estrogens
154
Sertoli cell non–germ cell tumor
Androblastoma from sex cord stroma
155
Testicular lymphoma
Most common testicular cancer in older men
156
Benign prostatic hyperplasia
Smooth, elastic, rm nodular enlargementof periurethral (lateral and middle) lobes, which compress the urethra
157
Prostatic adenocarcinoma
Arises most often from posterior lobe (peripheral zone) | Prostatic acid phosphatase (PAP) and PSA are useful tumor markers
158
Clomiphene
Antagonist at estrogen receptors in hypothalamus: inhibits neg feedback -> ↑ LH and FSH -> ovulation
159
Finasteride
Blocks 5α− reductase | BPH and male- pattern baldness
160
Androgen-receptor complex blockers (3)
Flutamide Cyproterone Spironolactone
161
Leuprolide
GnRH analog with agonist properties when given pulsatile | Downregulates GnRH receptor
162
Tamoxifen
Estrogen-r antagonist at breast; agonist at bone, uterus | ER/PR ⊕ breast cancer
163
Raloxifene
Estrogen-r antagonist at breast, uterus; agonist at bone | no increased risk of endometrial cancer
164
Aromatase inhibitors
Anastrozole, letrozole, exemestane | ER ⊕ breast cancer in postmenopausal women
165
Mifepristone, ulipristal
Competitive inhibitors of progestins at progesterone receptors Abortion/ER contraception
166
Terbutaline, ritodrine
β2-agonists that relax the uterus
167
Danazol
Synthetic androgen that acts as partial agonist at androgen receptors For: endometriosis, hereditary angioedema
168
Flutamide
Nonsteroidal competitive inhibitor at androgen receptors | Prostate carcinoma
169
Tamsulosin
α1-antagonist used to treat BPH by inhibiting smooth muscle contraction Selective for α1A/D receptors (found on prostate) vs vascular α1B receptors
170
Minoxidil
``` Direct arteriolar vasodilator Androgenetic alopecia (pattern baldness), severe refractory hypertension ```