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reproduction Flashcards

1
Q

Shh

A

Produced at base of limbs; important for A/P axis, CNS development (mutation can cause holoprosencephaly)

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2
Q

Wnt-7

A

Produced at apical ectodermal ridge at the distal limb; necessary for dorsal-ventral axis development

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3
Q

FGF

A

Produced at apical ectodermal ridge; stimulates mitosis of underlying mesoderm and lengthens limbs

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4
Q

Hox

A

Segmental organization in craniocaudal direction, codes for TF; mutation leads to appendages in wrong locations

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5
Q

ACE-I

A

Renal dmg

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6
Q

Alkylating agents

A

Absence of digits, multiple anomalies

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7
Q

Aminoglycosides

A

CNVIII toxocity

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8
Q

Carbamazepine

A

Facial dysmorphism, developmental delay, NT defects, phalanx/fingernail hypoplasia

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9
Q

Diethylstilbestrol

A

Vaginal clear cell adenoma, congenital mullerian anomalies

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10
Q

Folate antagonists

A

NT defects

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11
Q

Isoretinoin

A

Multiple severe birth defects, so contraception mandatory

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12
Q

Lithium

A

Ebstein anomaly (atrialized R ventricle)

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13
Q

Methimazole

A

Aplasia cutis congenita

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14
Q

Phenytoin

A

Fetal hydantoin syndrome (cleft palate, cardiac defects, phalanx/fingernail hypoplasia)

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15
Q

Tetracycline

A

Discolored teeth

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16
Q

Thalidomide

A

Flipper limbs

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17
Q

Valproate

A

NT defects

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18
Q

Warfarin

A

Bone deformaties, fetal hemorrhage, abortion, opthalmologic abnormalities

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19
Q

Cocaine

A

Abnormal fetal growth, fetal detection, and placental abruption

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20
Q

Smoking

A

Low birth weight, preterm labor, placental issues, ADHD

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21
Q

Iodine (both lack and excess)

A

Congeintal goiter or hypothyroidism (cretinism)

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22
Q

Maternal diabetes

A

Caudal regression syndrome, congenital heart defects, NT defects

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23
Q

Vitamin A

A

Spontaneous abortions or cleft plate, cardiac

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24
Q

X-ray

A

Microcephaly, intellectual disability

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25
Q

Monozygotic twins: splitting timeline

A

0-4 days: dichorionic, diamniotic; 4-8 days: monochorionic, diamniotic; 8-12 days: monochorionic, monoamniotic; >13 days: conjoined twins

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26
Q

Cytotrophoblasts

A

inner layer of chorionic villi

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27
Q

Syncytiotrophoblasts

A

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

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28
Q

Koilocytes

A

Pyknotic (pre-apoptotic) superficial or immature squamous cells with a dense, irregularly staining cytoplasm and pernuclear clearing

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29
Q

HPV manifestations

A

Skin warts (1-4), genital warts (6, 11), and intraepithelial neoplasia of cervix (16, 18)

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30
Q

Ovary nerves and vessels travel through:

A

Suspesory ligament in the ovary

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31
Q

What ligament/artery has to be ligated during radical hysterectomy

A

Cardinal ligament, which carries the uterine artery

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32
Q

Combined OCP MOA

A

Suppression of gonadotripn FSH/LH in anterior pituitary, inhibiting ovulation

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33
Q

Endometriosis anatomical findings

A

Nodularity of the uterosacral ligaments, fixed retroversion of the uterus, and endometriomas (chocolate cysts)

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34
Q

Human placental lactogen (hPL) MOA

A

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

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35
Q

Maternal insulin resistance

A

Increased placental of hPL, GH, estrogen, progesterone, GC; gestational DM occurs when pancreas cannot keep up with insulin resistance

36
Q

Turner syndrome

A

Lymphedema can vary in severity, from hands/feet to hydrops fetalis

37
Q

Incomplete fusion of urogenital folds results in:

A

Hypospadias

38
Q

Proliferative endometrium

A

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
Q

Secretory endometrium

A

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
Q

Bicornuate uterus or uterus didelphys etiology

A

Failure of the paramesonephric ducts to fuse (normally forms uterine tubes, uterus, cervix, and upper 1/3 of vagina)

41
Q

Primary amenorrhea with fully developed secondary sexual characteristics etiology

A

Anatomic defect in the genital tract, including imperforate hymen or Mullerian duct abnormalities

42
Q

Complete mole presentation

A

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
Q

Partial mole presentation

A

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
Q

Pregnancy/OCP predisposes to gallstones because?

A

Estrogen-induced cholesterol hypersecretion and progesterone-induced gallbladder hypomotility

45
Q

Lymph drainage of the testes, scrotum, and glans penis

A

para-aoric lymph nodes, the superficial inguinal lymph nodes, and deep inguinal nodes

46
Q

Fibroadenomas histology

A

Cellular, often myxoid stroma that encircles and compresses epithelium-lined glandular and cystic spaces

47
Q

Pudendal nerve

A

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
Q

Testicular hydrocele, fluid accumulates in what structure

A

Tunica vaginalis

49
Q

Estrogen and progesterone production locations during pregnancy

A

1st trimester: both produced by corpus luteum; 2nd trimester onwards, estrogen by fetal adrenal gland (with placenta) and progesterone by placenta

50
Q

Prolactin increases steadily during pregnancy; why isn’t there lactation?

A

Blocked by estrogen and progesterone

51
Q

Microagnathia (small jaws), small eyes (microphthalmia), malformed/low-set ears, rocker-bottom feet, clenched hands with overlapping fingers

A

Trisomy 18, Edwards syndrome

52
Q

Cleft lip/palate, polydactylly and omphalocele

A

Trisomy 13, Patau syndrome

53
Q

Accessory nipples vs nevi

A

Bilateral (50 percent); may swell or become tender during menses

54
Q

Vasectomy MOA

A

Transection of the vas deferens; 20 percent of patients have viable sperm in ejaculate after 3 months, need birth control

55
Q

Invasive mole

A

Hyropic villi, proliferated trophoblasts

56
Q

choriocarcinoma

A

Atypical cytotrophoblastic, syncytiotrpohoblastic cells with foci of hemorrhage, necrosis; no villi present

57
Q

Trisomny 21 key characteristics

A

MR, facial dysmorphism, single palmar crease, endocardial cushion defects, duodenal atresia; incresaed risk of AML, ALL, AD

58
Q

What gene and molecule determines gonadal differentiation into testes and not ovaries?

A

SRY gene on Y chromosome, testes-determining factor

59
Q

Lack of sertoli and fully functional Leydig cells leads to:

A

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
Q

Complete mole MOA

A

Sperm fertilizes an ovum without maternal chromosome; after which chromosomes are duplicated.

61
Q

Turner syndrome MOA

A

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
Q

RAS

A

proto-oncogene; GTP binding protein; cholangiocarcinoma, pancreatic adenocarcinoma

63
Q

MYC

A

proto-oncogene; TF; burkitt lymphoma

64
Q

ERBB1

A

proto-oncogene; Receptor tyrosine kinase; lung adenocarcinoma

65
Q

ERBB2

A

proto-oncogene; Receptor tyrosine kinase; breast cancer

66
Q

ABL

A

proto-oncogene; nonreceptor tyrosine kinase; CML

67
Q

BRAF

A

proto-oncogene; RAS signal transduction; hairy cell leukemia, melanoma

68
Q

BRCA 1, 2

A

tumor suppressor genes; DNA repair; breast/ovarian cancer

69
Q

APC/beta-catenin

A

tumor suppressor; WNT signaling pathway; colon, gastric, pancreatic cancer, FAP

70
Q

TP53

A

tumor suppressor; genomic stability; most cancers, li-fraumeni syndrome

71
Q

RB

A

tumor suppressor; G1/S transition inhibitor; retinoblastoma, osteosarcoma

72
Q

WT1

A

tumor suppressor; urogenital differentitation; Wilms tumor

73
Q

VHL

A

tumor suppressor; ubiquitin ligase; RCC, VHL syndrome

74
Q

Estrogen synthesis

A

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
Q

Granulosa cell tumors

A

Estrogen-secreting tumors that can cause endometrial hyperplasia, abonrmal uterine bleeding, and predisposition to endometrial adenocarcinoma

76
Q

Mifepristone MOA

A

anti-progestin agent that leads to decidual necrosis and expulsion of the products of conception

77
Q

Misoprostol

A

Prostaglandin-E1 analogue that causes uterine contraction and cervical diltation

78
Q

Anovulation MOA

A

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
Q

Uretheral injury most likely in:

A

Membranous segment of the posterior urethra as it is unsupported by nearby tissue

80
Q

Congenital torticollis

A

Malposition of the head in utero or birth trauma

81
Q

Granulosa cell tumor

A

Unilateral, yellow cut surface; Call-Exner bodies (small, gland-like structures with acidophilic material), in sheets or cords

82
Q

Comedocarcinoma

A

Solid sheets of pleomorphic, high-grade cells with central necrosis

83
Q

PCOS hormone deregulation and risks

A

Acyclic estrogen production, elevated LH levels, progesterone deficiency; higher risk of endometrial hyperplasia/carcinoma and type 2 diabetes

84
Q

Epithelium makeup in female GU tract

A

Overy: simple cuboidal; fallopian tube, uterus, endocervix: simple columnar; cervix: stratified squamous; vagina: stratified squamous non-keratinized

85
Q

Progesterone effect on endometrial cells; what happens with withdrawal?

A

Endometrial stromal cells differentiate into decidual cells; withdrawal leads to apoptosis

86
Q

Clomiphene

A

Estrogen receptor modulator that deceases negative feedback inhibition on hypothalamus by circulating estrogens

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