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Reproductive Flashcards

1
Q

Sonic hedgehog gene

A

Produced at base of limbs in zone of polarizing activity, involved in patterning along anterior posterior axis (base of limbs)

Involved in CNS development

Mutation can cause holoprosencephaly

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2
Q

Wnt 7 gene

A

Produced at apical ectodermal ridge (distal part of limbs)

Necessary for proper organization along dorsal-vental axis

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3
Q

FGF gene

A

Produced at apical ectodermal ridge

Stimulates mitosis of underlying mesoderm, providing for lengthening of limbs

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4
Q

Homebox (Hox) gene

A

Involved in segmental organization of embryo in a craniocaudal direction

Hox mutations: appendages in wrong location

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5
Q

Aortic arch derivatives

A

1st: Maxillary artery
2nd: Stapedial artery
3rd: Common Carotid/Internal Carotid artery
4th: Aortic arch
6th: Pulmonary arteries

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6
Q

Brachial cleft

A

Derived from ectoderm, AKA brachial grooves

1st: external auditory meatus

2nd-4th: temporary cervical sinuses (obliterated later by 2nd arch)

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7
Q

Brachial arch

A

Derived from mesoderm

1st: Mandibles, Muscles of mastication, CN V
2nd: Stapes, styloid, muscles of facial expression, CN VII
3rd: hyoid, stylopharyngeus, CN IX

4th-6th: thyroid, pharyngeal constrictors, CN X

When at the restaurant of golden arch, children chew, smile, swallow, then speak

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8
Q

Brachial pouch

A

Derived from endoderm

1st: middle ear cavity
2nd: epithelial lining of palatine tonsil
3rd: inferior parathyroids, thymus
4th: superior parathyroids

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9
Q

Sertoli cell deficiency

A

Lack of mullerian inhibitory factor, loss of inhibition of suppression of development of paramesonephric duct (mullerian duct)

Develops both male and female internal genitalia and male external genitalia

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10
Q

Leydig cell deficiency

A

Leydig cells secret androgens normally to stimulate the development of mesonephric ducts (Wolffian duct)

Deficiency of leydig cells leads to agenesis of male internal genitalia

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11
Q

5alpha reductase deficiency

A

Enzyme normally converts testosterone to DHT for development of external male genitalia

Lack of DHT results in internal male genitalia, ambiguous external genitalia until puberty (when testosterone levels cause masculinization)

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12
Q

Infundibulopelvic ligament

A

Connects ovaries to lateral pelvic wall

Contains ovarian vessels

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13
Q

Cardinal ligament

A

Connects cervix to lateral pelvic wall

Contains uterine vessels

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14
Q

Round ligament of the uterus

A

Connects fundus to labia majora

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15
Q

Broad ligament

A

Connects uterus, fallopian tubes, and ovaries to pelvic side wall

Contains ovaries, fallopian tubes, and round ligament of uterus

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16
Q

Ovarian ligament

A

Connects medial pole of ovary to lateral uterus

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17
Q

Klinefelter syndrome

A

XXY male

Testicular atrophy, tall, long extremities, gynecomastia

Dysgenesis of seminiferous tubules (decreased inhibin, decreased testosterone due to deficiency in leydig and sertoli cells)

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18
Q

Aromatase deficiency

A

Inability to synthesize estrogen to androgens

Masculinzation of female (46 XX) infants (ambiguous genitalia)

19
Q

Androgen insensitivity (46 XY)

A

Defect in androgen receptor resulting in normal appearing female

Female external genitalia, but absence of uterus and fallopian tubes

Develops testes, usually need to be surgically removed

20
Q

Kallmann syndrome

A

Failure to complete puberty, a form of hypogonadotropic hypogonadism

Defective migration of GnRH cells and formation of olfactory bulb

Decreased GnRH, FHS, LH, testosterone, and infertility

21
Q

Fibroadenoma

A

Benign

Small mobile firm masses

Increase size and tenderness w/ increase in estrogen

22
Q

Intraductal papilloma

A

Benign

Small tumor that grows in lactiferous ducts (large) typically beneath areola

Increased risk of carcinoma

23
Q

Phyllodes tumor

A

Benign

Large bulky mass of connective tissue and cysts

Increased risk of carcinoma

24
Q

Ductal carcinoma in situ

A

Noninvasive

Fills ductal lumen, arises from ductal atypia

Early malignancy without basement membrane penetration

25
Comedocarcinoma
Noninvasive Subtype of DCIS, central caseous necrosis surrounded by cancer cells
26
Paget disease of the breast
Noninvasive Results from underlying DCIS, eczematous patches on nipple Does not suggest underlying malignancy
27
Proliferative breast disease
Most common cause of breast lumps Often present w/ premenstrual pain and multiple lesions (usually bilateral) Usually does not indicate increased risk of carcinoma
28
Prostatic adenocarcinoma
Arises most often from the posterior lobe of prostate gland Prostatic acid phosphatase and PSA are tumor markers Osteoblastic metastases in bone may develop in later stages, usually indicated by lower back pain and increase in alk phos and PSA
29
Cryptorchidism
Undescended testis (one or both) Impaired spermatogenesis (since sperm develop best at temp <37 C) Can have normal testosterone lvl (normal leydig cells as they are unaffected by temp) Can have decreased inhibin and increased FH due to dysfunctional sertoli Associated w/ increased risk of germ cell tumors
30
Varicocele
Dilated veins in pampininform plexus as a result of increased venous pressure Most common cause of scrotal enlargement Most often on the left side 2ndary to increased resistance to flow from left gonadal drainage into left renal vein Bag of worms appearance
31
Seminoma
Testicular germ cell tumor, malignant Painless, homogenous testicular enlargement, most common Large cells with watery cytoplasma and "fried egg" appearance
32
Choricarcinoma
Testicular germ cell tumor, malignant Increased betaHCG Disordered syncytiotrophoblastic and cytotrophoblastic elements Hematougenous metastases to lungs and brain
33
Leuprolide
GnRH analog Agonist properties when used in pulsatile fashion (up regulate FSH/LH) Antagonist properties when used in continuous fashion (down regulate FSH/LH) Can be used to treat infertility (pulsatile), prostate cancer (continuous), uterine fibroids (continuous)
34
Clomiphene
SERM Antagonist at estrogen receptors in hypothalamus, preventing normal feedback inhibition and increase release of LH and FSH Used to treat infertility and anovulation
35
Tamoxifen
SERM Antagonist on breast tissue, agonist at uterus Treat ER+ breast cancer, associated w/ endometrial cancer
36
Raloxifene
Agonist on bone, antagonist at uterus Decreased resorption of bone, treatment for osteoporosis
37
Terbutaline
Beta2 agonist that relaxes the uterus Used to decrease contractions frequency in women during labor (often for preterm labor to prolong labor and allow for lung maturity with steroids)
38
Finasteride
5alpha reductase inhibitor (decrease conversion from testosterone to DHT) Useful in BPH, also promotes hair growth
39
Flutamide
Nonsteroidal competitive inhibitor of androgen at testosterone receptors Treat prostate carcinoma
40
Ketoconazole
Inhibits steroid synthesis Treat PCOS to prevent hirsutism
41
Spironolactone
Inhibit steroid binding Treat hirsutism
42
Tamsulosin
Alpha1 antagonist, selective for alpha1 receptors found on prostate Treat BPH by inhibition of smooth muscle contraction
43
Sidenafil, verdenafil
Phosphodiesterase inhibitor Causing increased cGMP, which leads to smooth muscle relaxation, including corpus cavernosum, leading to increased blood flow and penile erection Treatment for erectile dysfunction Risk of life-threatening hypotension when taking together with nitrates (nitrate breaks down to NO, which causes increased concentration of cGMP)

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