reproduction Flashcards
1
Q
Shh
A
Produced at base of limbs; important for A/P axis, CNS development (mutation can cause holoprosencephaly)
2
Q
Wnt-7
A
Produced at apical ectodermal ridge at the distal limb; necessary for dorsal-ventral axis development
3
Q
FGF
A
Produced at apical ectodermal ridge; stimulates mitosis of underlying mesoderm and lengthens limbs
4
Q
Hox
A
Segmental organization in craniocaudal direction, codes for TF; mutation leads to appendages in wrong locations
5
Q
ACE-I
A
Renal dmg
6
Q
Alkylating agents
A
Absence of digits, multiple anomalies
7
Q
Aminoglycosides
A
CNVIII toxocity
8
Q
Carbamazepine
A
Facial dysmorphism, developmental delay, NT defects, phalanx/fingernail hypoplasia
9
Q
Diethylstilbestrol
A
Vaginal clear cell adenoma, congenital mullerian anomalies
10
Q
Folate antagonists
A
NT defects
11
Q
Isoretinoin
A
Multiple severe birth defects, so contraception mandatory
12
Q
Lithium
A
Ebstein anomaly (atrialized R ventricle)
13
Q
Methimazole
A
Aplasia cutis congenita
14
Q
Phenytoin
A
Fetal hydantoin syndrome (cleft palate, cardiac defects, phalanx/fingernail hypoplasia)
15
Q
Tetracycline
A
Discolored teeth
16
Q
Thalidomide
A
Flipper limbs
17
Q
Valproate
A
NT defects
18
Q
Warfarin
A
Bone deformaties, fetal hemorrhage, abortion, opthalmologic abnormalities
19
Q
Cocaine
A
Abnormal fetal growth, fetal detection, and placental abruption
20
Q
Smoking
A
Low birth weight, preterm labor, placental issues, ADHD
21
Q
Iodine (both lack and excess)
A
Congeintal goiter or hypothyroidism (cretinism)
22
Q
Maternal diabetes
A
Caudal regression syndrome, congenital heart defects, NT defects
23
Q
Vitamin A
A
Spontaneous abortions or cleft plate, cardiac
24
Q
X-ray
A
Microcephaly, intellectual disability
25
Monozygotic twins: splitting timeline
0-4 days: dichorionic, diamniotic; 4-8 days: monochorionic, diamniotic; 8-12 days: monochorionic, monoamniotic; >13 days: conjoined twins
26
Cytotrophoblasts
inner layer of chorionic villi
27
Syncytiotrophoblasts
outer layer of chorionic villi; secrets hCG which stimulates corpus luteum to secrete progesterone during 1st tri; lacks MHC-1 expression to prevent maternal immune response
28
Koilocytes
Pyknotic (pre-apoptotic) superficial or immature squamous cells with a dense, irregularly staining cytoplasm and pernuclear clearing
29
HPV manifestations
Skin warts (1-4), genital warts (6, 11), and intraepithelial neoplasia of cervix (16, 18)
30
Ovary nerves and vessels travel through:
Suspesory ligament in the ovary
31
What ligament/artery has to be ligated during radical hysterectomy
Cardinal ligament, which carries the uterine artery
32
Combined OCP MOA
Suppression of gonadotripn FSH/LH in anterior pituitary, inhibiting ovulation
33
Endometriosis anatomical findings
Nodularity of the uterosacral ligaments, fixed retroversion of the uterus, and endometriomas (chocolate cysts)
34
Human placental lactogen (hPL) MOA
Syncytiotrophoblast-produced, similar structurally and biochemically to prolactin and growth hormone; hPL increases maternal insulin resistance, maternal lipolysis and proteolysis; the average levels of hPL increase with increasing gestational age
35
Maternal insulin resistance
Increased placental of hPL, GH, estrogen, progesterone, GC; gestational DM occurs when pancreas cannot keep up with insulin resistance
36
Turner syndrome
Lymphedema can vary in severity, from hands/feet to hydrops fetalis
37
Incomplete fusion of urogenital folds results in:
Hypospadias
38
Proliferative endometrium
Days 1-14, estrogen stimulates proliferation of stratum functionale; consists of non-branching, nonbudding uniform glands evenly distrubited throughout a uniform stroma; the glands are tubular, narrow, and lined with psuedostratified, elongated, mitotically active epithelial cells
39
Secretory endometrium
Days 15-28, progesterone stimulates development of secretory endothelium, in which the glands become coiled and release glycogen-rich mucous into the glandular lumen; stroma become edematous with spiral arteries.
40
Bicornuate uterus or uterus didelphys etiology
Failure of the paramesonephric ducts to fuse (normally forms uterine tubes, uterus, cervix, and upper 1/3 of vagina)
41
Primary amenorrhea with fully developed secondary sexual characteristics etiology
Anatomic defect in the genital tract, including imperforate hymen or Mullerian duct abnormalities
42
Complete mole presentation
Vaginal bleeding with uterus enlarged out of proportion to vaginal age; risk of nausea, pre-eclampsia, hyperthyroidism, and theca-lutein cysts; evacuated contents are trophoblasts only ("bunch of grapes"); no fetal tissue present, 46 XX/XY; risk of malignant trophoblastic disease
43
Partial mole presentation
Vaginal bleeding with crampy abdominal pain; contents include fetus, cord, amniotic membrain and some grossly enlarged villi; fetal tissue present, 69 XXX, XXY; low malignancy risk
44
Pregnancy/OCP predisposes to gallstones because?
Estrogen-induced cholesterol hypersecretion and progesterone-induced gallbladder hypomotility
45
Lymph drainage of the testes, scrotum, and glans penis
para-aoric lymph nodes, the superficial inguinal lymph nodes, and deep inguinal nodes
46
Fibroadenomas histology
Cellular, often myxoid stroma that encircles and compresses epithelium-lined glandular and cystic spaces
47
Pudendal nerve
S2-S4; sensory innervation to the perineum and genitals, as well sa motor innervation sphincter urethrae and external anal sphincter; pudendal block placed in the ischial spine
48
Testicular hydrocele, fluid accumulates in what structure
Tunica vaginalis
49
Estrogen and progesterone production locations during pregnancy
1st trimester: both produced by corpus luteum; 2nd trimester onwards, estrogen by fetal adrenal gland (with placenta) and progesterone by placenta
50
Prolactin increases steadily during pregnancy; why isn't there lactation?
Blocked by estrogen and progesterone
51
Microagnathia (small jaws), small eyes (microphthalmia), malformed/low-set ears, rocker-bottom feet, clenched hands with overlapping fingers
Trisomy 18, Edwards syndrome
52
Cleft lip/palate, polydactylly and omphalocele
Trisomy 13, Patau syndrome
53
Accessory nipples vs nevi
Bilateral (50 percent); may swell or become tender during menses
54
Vasectomy MOA
Transection of the vas deferens; 20 percent of patients have viable sperm in ejaculate after 3 months, need birth control
55
Invasive mole
Hyropic villi, proliferated trophoblasts
56
choriocarcinoma
Atypical cytotrophoblastic, syncytiotrpohoblastic cells with foci of hemorrhage, necrosis; no villi present
57
Trisomny 21 key characteristics
MR, facial dysmorphism, single palmar crease, endocardial cushion defects, duodenal atresia; incresaed risk of AML, ALL, AD
58
What gene and molecule determines gonadal differentiation into testes and not ovaries?
SRY gene on Y chromosome, testes-determining factor
59
Lack of sertoli and fully functional Leydig cells leads to:
Both male/female internal genitalia (no Mullerfian inhibiting factor so paramesonephric ducts go on to develop into fallopian tubes, uterus) and male external genitalia (intact testosterone)
60
Complete mole MOA
Sperm fertilizes an ovum without maternal chromosome; after which chromosomes are duplicated.
61
Turner syndrome MOA
Lack of a second X chromosome leads to ovaries with little/no follicles, and thus also cannot produce estrogen and progesterone (thus no thelarche or menarche)
62
RAS
proto-oncogene; GTP binding protein; cholangiocarcinoma, pancreatic adenocarcinoma
63
MYC
proto-oncogene; TF; burkitt lymphoma
64
ERBB1
proto-oncogene; Receptor tyrosine kinase; lung adenocarcinoma
65
ERBB2
proto-oncogene; Receptor tyrosine kinase; breast cancer
66
ABL
proto-oncogene; nonreceptor tyrosine kinase; CML
67
BRAF
proto-oncogene; RAS signal transduction; hairy cell leukemia, melanoma
68
BRCA 1, 2
tumor suppressor genes; DNA repair; breast/ovarian cancer
69
APC/beta-catenin
tumor suppressor; WNT signaling pathway; colon, gastric, pancreatic cancer, FAP
70
TP53
tumor suppressor; genomic stability; most cancers, li-fraumeni syndrome
71
RB
tumor suppressor; G1/S transition inhibitor; retinoblastoma, osteosarcoma
72
WT1
tumor suppressor; urogenital differentitation; Wilms tumor
73
VHL
tumor suppressor; ubiquitin ligase; RCC, VHL syndrome
74
Estrogen synthesis
At theca interna cells, under LH stimulation, cholesterole is converted to progesterone and androgens; at granulosa cells (via aromatase), under FSH influence, androgens are converted to estrogen
75
Granulosa cell tumors
Estrogen-secreting tumors that can cause endometrial hyperplasia, abonrmal uterine bleeding, and predisposition to endometrial adenocarcinoma
76
Mifepristone MOA
anti-progestin agent that leads to decidual necrosis and expulsion of the products of conception
77
Misoprostol
Prostaglandin-E1 analogue that causes uterine contraction and cervical diltation
78
Anovulation MOA
First several years after menarche; immature HPO axis leads to no ovluation, no degeneration of the follicle into corpus luteum, no progesterone, and continued estrogen stimulation of endometrium in the proliferative phase (leading to irregular periods of bleeding)
79
Uretheral injury most likely in:
Membranous segment of the posterior urethra as it is unsupported by nearby tissue
80
Congenital torticollis
Malposition of the head in utero or birth trauma
81
Granulosa cell tumor
Unilateral, yellow cut surface; Call-Exner bodies (small, gland-like structures with acidophilic material), in sheets or cords
82
Comedocarcinoma
Solid sheets of pleomorphic, high-grade cells with central necrosis
83
PCOS hormone deregulation and risks
Acyclic estrogen production, elevated LH levels, progesterone deficiency; higher risk of endometrial hyperplasia/carcinoma and type 2 diabetes
84
Epithelium makeup in female GU tract
Overy: simple cuboidal; fallopian tube, uterus, endocervix: simple columnar; cervix: stratified squamous; vagina: stratified squamous non-keratinized
85
Progesterone effect on endometrial cells; what happens with withdrawal?
Endometrial stromal cells differentiate into decidual cells; withdrawal leads to apoptosis
86
Clomiphene
Estrogen receptor modulator that deceases negative feedback inhibition on hypothalamus by circulating estrogens
