Pathology Flashcards

Question

Acute endometritis

Answer 1

Bacterial infection of endometrium - usually due to retained products of conception (after delivery or miscarriage) - Presents with fever, abnormal uterine bleeding and pelvic pain

Answer 2

Chronic inflammation of endometrium characterized by lymphocytes and plasma cells* Caused by retained products of conception, chronic PID (Chlamydia ex), IUD, TB (granulomas) Presentation: abnormal bleeding, pain, infertility

Answer 3

gentamicin + clindamycin w or w/out ampicillin

Answer 4

well circumscribed hyperplastic protrusion of endometrium Presents as abnormal bleeding Can arise as side effect of tamoxifen (weak pro-estrogenic effects on endometrium)

Answer 5

Endometrial glands and stroma outside of uterine endometrial lining, most commonly affecting ovaries Etiology: 3 theories 1. retrograde menstruation w ectopic implantation 2. metaplastic transformation of multipotent cells 3. transportation of endometrial tissue via lymphatics Presentation: dysmenorrhea (menstrual pain)and pelvic pain , dyschezia (pain w/ defecation) - pouch of Douglas, dyspareunia (painful intercourse), infertility In ovary appears as 'chocolate cyst' endometrioma In soft tissue appears as 'gun powder' nodules Treatment: NSAIDs, OCPs, progestins, GnRH agonists, danazol, laparoscopic removal

Answer 6

Endometriosis in myometrium caused by hyperplasia of basal layer of endometrium Presents with dysmenorrhea, menorrhagia, enlarged soft globular uterus Treatment: GnRH agonists, hysterectomy

Answer 7

Hyperplasia of endometrial glands relative to stroma Etiology: unopposed estrogen (obesity, PCOS, estrogen replacement) Presentation: usually postmenopausal uterine bleeding Histology: cellular atypia is most important predictor for progression to carcinoma

Answer 8

Most common invasive carcinoma of female GU tract Presentation: postmenopausal bleeding 2 etiologies: 1. Endometrial hyperplasia (75%) - risk factors related to increased estrogen exposure - age ~60 - histology: endometrioid 2. Sporadic (25%) - no evident precursor lesion, p53 mutation common - aggressive behavior of tumor - histology: serous papillary structures w psammoma bodies

Answer 9

most common tumor in females, higher incidence in African Americans benign neoplastic proliferation of smooth muscle of myometrium, related to estrogen exposure Presents: PREmenopausal women Multiple, well-defined, white, whorled masses -> may distort uterus *Usually asymptomatic, if presents- symptoms of abnormal uterine bleeding, infertility, pelvic mass

Answer 10

Malignant proliferation of myometrium smooth muscle - Arises de-novo *DO NOT arise from leiomyoma (fibroids)* - POSTmenopausal women - Gross exam: single lesion with necrosis and hemorrhage

Answer 11

``` pregnancy PCOS obesity HPO axis abnormalities premature ovarian failure hyperprolactinemia thyroid disorders eating disorders competitive sports Cushing syndrome adrenal insufficiency ```

Answer 12

distention of unruptured graafian follicle, associated with hyperestrogenism, endometrial hyperplasia. most common ovarian mass in young women. Small numbers are common and no clinical significance

Answer 13

Multiple ovarian follicular cysts from hormone imbalance Characterized by increased LH and low FSH (LH:FSH >2) Hyperinsulinemia (increase free testosterone via decreased sex hormone binding globulin) and/or insulin resistance (stimulates theca cells to produce more androgens) may alter hormonal feed back response -> Increased LH:FSH -> increased androgens from theca -> hirsutism, estrone in adipose negative feedback decreases FSH -> cystic degeneration of follicles + anovulation Associated with obesity, increases risk of endometrial cancer secondary to unopposed estrogen from repeated anovulatory cycles Treatment: weight reduction, OCPs, clomiphene citrate (SERM), ketoconazole (anti-androgen), spironolactone (anti-androgen)

Answer 14

Most common type of ovarian tumor Derived from coelomic epithelium that lines ovary - embryologically produces lining of fallopian tube (serous cells), endometrium and endocervix (mucinous cells) ``` Common subtypes: Cystadenomas Cystadenocarcinomas Endometriod tumors Brenner tumors ``` They often present late with vague symptoms: pain and fullness or signs of compression - urinary frequency Poor prognosis of surface epithelial carcinoma and tend to spread locally, especially peritoneum (CA-125 marker to monitor treatment response)

Answer 15

Benign tumors composed of single cyst with simple flat lining - contain serous (most common) or mucinous epithelium and fluid -commonly in PREmenopausal women (30-40yo

Answer 16

Malignant tumors - Serous cystadenocarcinoma - most common ovarian neoplasm, freq bilateral, psammoma bodies - Mucinous - pseudomyxoma peritonei-intraperitoneal accumulation of mucinous material from ovarian or appendical tumor - composed of multiple complex cysts with thick shaggy lining - commonly in POSTmenopausal women (60-70yo)

Answer 17

serous carcinoma of ovary and fallopian tube

Answer 18

Usually malignant composed of endometrial-like glands, may arise from endometriosis 15% associated with an independent endometrial carcinoma (endometriod type)

Answer 19

Usually benign, composed of urothelium (bladder-like epithelium) Solid tumor is pale yellow and appears encapsulated. 'coffee bean' nuclei on H&E

Answer 20

2nd most common type of ovarian tumor -usually women of reproductive age Subtypes: 1. Fetal tissue- cystic teratoma and embryonal carcinoma 2. Oocytes (germ cell) - dysgerminoma 3. Yolk sac - endodermal sinus tumor 4. Placental tissue - choriocarcinoma

Answer 21

Most common ovarian tumor in women 20-30yo Cystic mass with elements from all 3 germ layers (bilateral 10% of time) Can present with pain secondary to ovarian enlargement Benign, but presence of immature tissue (neural) or somatic malignancy (tumor w/in teratoma, usually squamous cell carcinoma of skin) --> malignant potential

Answer 22

Cystic teratoma comprised mostly of thyroid tissue --> hyperthyroidism presentation

Answer 23

Most common in adolescents Malignant tumor composed of large cells with clear cytosol and central nuclei; Seminoma is counterpart in males Good prognosis, responds to RT Serum LDH may be elevated

Answer 24

Aggressive tumor in ovaries or testes and sacrococcygeal area in kids Most common germ cell tumor in children Yellow, friable (hemorrhagic) solid mass Histo: Schiller-Duval bodies (resemble glomeruli) AFP= tumor marker

Answer 25

Rare, can develop during or after pregnancy in mom or baby/ Malignant tumor composed of cytotrophoblasts and syncytiotrophoblasts; mimics placental tissue but villi absent Small, hemorrhagic tumor with early hematogenous spread -> to lung Presentation: shortness of breat, hemoptysis and *High beta-hCG is characteristic --> may lead to thecal cysts in ovaries

Answer 26

Malignant sex cord-stromal tumor, neoplastic proliferation of granulosa and theca cells (usually don't metastasize) - Presents with signs of excess estrogen - Predominantly women in 50s - endometrial hyperplasia with postmenopausal bleeding - prior to puberty can cause precocious puberty - reproductive age- menorrhagia or metrorrhagia Histology: Call-Exner bodies (granulosa cells arranged around collections of eosinophilic fluid, resembles primordial follicles)

Answer 27

Sex cord-stromal tumor of ovary - composed of sertoli cells and Leydig cells with characteristic Reinke crystals May produce androgen -> virilization

Answer 28

Benign ovarian tumor of fibroblasts Bundles of spindle-shaped fibroblasts Associated with Meigs syndrome: triad of ovarian fibroma, ascites and hydrothorax. presentation: "pulling" sensation in groin

Answer 29

Metastatic mucinous tumor involving both ovaries Usually due to metastatic gastric carcinoma (diffuse type) See mucin secreting signet ring cells

Answer 30

Implantation of fertilized ovum at site other than uterine wall Most commonly site is ampulla of fallopian tube Presentation: pain w or w/out bleeding, hx of amenorrhea, lower-than expected rise in hCG, sudden lower abdominal pain Confirm w US ``` Risk factors- scarring of fallopian tube: Hx of infertility Salpingitis (PID) Ruptured appendix Prior tubal surgery ``` Major complications: hematosalpinx (bleeding into fallopian tube) and rupture

Answer 31

Miscarriage before 20 weeks Presentation: vaginal bleeding, cramping, passage of fetal tissues Usually due to chromosomal anomalies, also hypercoagulable states (ex SLE antiphospholipid syndrome), infection, teratogens

Answer 32

Too much amniotic fluid (>1.5-2L) Associated with fetal malformations (inability to swallow amniotic fluid) - esophageal/duodenal atresia - anencephaly Associated with maternal diabetes, fetal anemia, multi gestations

Answer 33

Fetal vessels run over or near cervical os May result in vessel rupture, exsanguination, fetal death Presents: triad of membrane rupture, painless vag bleeding, fetal bradycardia ( fetal vessels travel unprotected by Wharton jelly)

Answer 34

Attachment of placenta to lower uterine segment over or

Answer 35

Prematureseparation of placenta from uterine wall Presentation: abrupt painful bleeding in 3rd trimester; possible DIC, maternal shock, fetal distress. Life threatening to mom and fetus Risk factors: Trauma, HTN, smoking, preeclampsia, cocaine abuse

Answer 36

Defective decidual layer -> abnormal attachment of placenta Presentation: usually detected early on US No separation of placenta after delivery -> postpartum bleeding -> can cause Sheehan syndrome Risk factors: prior C-section, inflammation, placenta previa 3 types based on depth: 1. placenta accreta - attaches to myometrium w/out penetrating it (most common) 2. placenta increta - placenta penetrates into myometrium 3. placenta precreta - placenta penetrates through myometrium and into serosa, can cause attachment to rectum or bladder

Answer 37

Pregnancy induced HTN (may cause HA and vision changes), proteinuria and edema - usually in 3rd trimester (if less than 20 weeks suggest molar pregnancy) - abnormalities of spiral arteries (maternal-fetal vascular interface) in placenta; resolves w delivery Risk factors: pre-existing HTN, diabetes, chronic renal disease, autoimmune disorders Complications: placental abruption, coagulopathy, renal failure, uteroplacental insufficiency, eclampsia Treatment: antihypertensives, IV magnesium sulfate (prevent seizure), definitive treatment is delivery of baby

Answer 38

may cause postpartum hemorrhage, increases risk of infection

Answer 39

Preeclampsia + seizures Maternal death due to stroke, intracranial hemorrhage or ARDS Treatment: IV magnesium sulfate, antihypertensives, immediate delivery

Answer 40

Hemolysis, Elevated Liver enzymes, Low Platelets Severe preeclampsia manifestation with thrombotic microangiopaty involving liver --> Blood smear shows schistocytes Can lead to hepatic hematomas -> rupture -> severe hypotension Treatment: immediate delivery

Answer 41

death of healthy infant (1mo-1yr) w/out obvious cause usually during sleep Risk factors: sleeping on stomach, second hand smoke, prematurity

Answer 42

BP>140/90mmHg after 20th week gestation when no pre-existing HTN No proteinuria or end-organ damage Treatment: antihypertensives (alpha-methyldopa, labetalol, hydralazine, nifedipine); deliver at 37-39 wks

Answer 43

abnormal conception characterized by swollen and edematous villi with proliferation of trophoblasts Associated with theca-lutein cysts, hyperemesis gravidarum, hyperhtyroidism Treatment: dilation and curettage and methotrexate. Monitor beta-hCG

Answer 44

Genetics: 69XXX, 69XXY, 69XYY Components: 2 sperm +1egg fetal parts: Yes hCG: elevated Uterine size: ~normal Convert to choriocarcinoma: rare Risk of complications: low risk of malignancy Symptoms: vaginal bleeding, abdominal pain Imaging: fetal parts villous edema: some villi hydropic, some normal Trophoblastic proliferation: focal proliferation around villi

Answer 45

Genetics: 46XX, 46XY Components: enucleated egg+ single sperm that duplicates or 2 sperm fetal parts: no hCG: very high! Uterine size: much larger for date of gestation Convert to choriocarcinoma: 2% Risk of complications: 15-20% malignant trophoblastic disease Symptoms: 1st trimester bleeding, enlarged uterus, hyperemesis, pre-eclampsia, hyperthyroidism Imaging: "honeycombed" uterus or "clusters of grapes"/ "snowstorm" on US villous edema: almost all villi are hydropic Trophoblastic proliferation: diffuse, circumferential proliferation around villi

Answer 46

Opening of urethra on inferior surface (ventral side) due to failure of urethral folds to fuse

Answer 47

(very rare) opening on uretra on superior (dorsal) surface of penis due to abnormal positioning of the genital tubercle Associated with exstrophy of bladder (complete exposure of bladder wall)

Answer 48

necrotizing inflammation of inguinal lymphatics and lymph nodes Etiology: STDs caused by Chlamydia trachomatis (L1-L3 serotypes) Eventually heals w fibrosis, perianal involvement may cause rectal stricture

Answer 49

risk factors: high risk HPV (16,18,31,33), lack of circumcision and improperly maintained foreskin -More common in Asia, Africa and S. America Precursor in situ lesions: 1. Bowen disease - in situ carcinoma of penile shaft, presents as leukoplakia 2. Erythroplasia of Queyrat - in situ carcinoma on glans presenting with erythroplakia 3. Bowenoid papulosis - in situ carcinoma presenting with reddish papules, seen in younger patients (40s), does NOT progress to carcinoma

Answer 50

Failure of testicle to descend into scrotal sac -impaired spermatogenesis (sperm develop best at

Answer 51

Inflammation of testicle Causes: 1. young adults- C. trachomatis (D-K serotypes) or N. gonorrhoeae. Increased risk of sterility, but libido spared since Leydig unaffected 2. older adults - E. coli and Pseudomonas. UTI spread into repro tract 3. teenage males -> Mumps virus, increased risk for infertility (mumps also causes parotitis, meningitis, pancreatitis) 4. Autoimmune - granumolas involving seminiferous tubules

Answer 52

Abnormal curvature of penis due to fibrous plaque within tunica albuginea Associated w erectile dysfunction

Answer 53

painful erection >4 hours Associated with trauma, sickle cell disease (sickled RBCs get stuck), meds (sildenafil, trazodone) Treat with corporal aspiration, intracavernosal phenylephrine or surgical decompression to prevent ischemia

Answer 54

dilation of spermatic vein due to impaired drainage gives 'bag of worms' appearance - usually L sided, associated with L sided RCC since often invades L renal vein - seen in many infertile males (warm blood piles up)

Answer 55

twisting of spermatic cord -> veins become obstructed -> congestion and hemorrhagic infarction - usually congenital failure of testes to attach inner lining of scrotum via processus vaginalis - presents as sudden testicular pain and absent cremasteric reflex

Answer 56

common cause of scrotal swelling in infants due to incomplete obliteration of proccessus vaginalis -transilluminating swelling

Answer 57

benign scrotal fluid collection usually secondary to infection, trauma, tumor -transilluminating -if bloody: hematocele

Answer 58

cyst due to dilated epididymal duct or rete testis paratesticular fluctuant nodule

Answer 59

arise in midline locations Adults- retroperitoneum, mediastinum, pineal and supraseller regions Infants and young kids- sacrococcygeal teratomas most common

Answer 60

~95% of testicular tumors - Seminomas (55% of cases, good prognosis) - Non-seminomas (45% of cases, variable response and metastasize early): embryonal carcinoma, yolk sac (endodermal sinus) tumor, choriocarcinoma, teratoma - usually young men (15-40yr) - risk factors: cryptorchidism, Klinefelter syndrome - can present as mixed germ cell tumor - Ddx for painless testicular mass that doesn't transilluminate is cancer

Answer 61

Malignant, painless, homogenous testicular enlargement - most common testicular tumor, most common in 30s, never in infancy - large cells in lobules with clear cytoplasm and 'fried egg' appearance (resembles dysgerminoma in ovary) - increased placental ALP - responds to RT, late metastasis, very good prognosis

Answer 62

malignant, hemorrhagic mass with necrosis; painful; worse prognosis than seminoma- aggressive with early spread - glandular/papillary morphology, usually mixed with other tumor types - chemo can cause differentiation into other germ cell tumors - may have increased hCG and normal AFP levels when pure, increased AFP if mixed

Answer 63

malignant tumor that resembles yolk sac elements- yellow, mucinous -most common testicular tumor in children

Answer 64

malignant tumor of syncytiotrophoblasts (produces hCG) and cytotrophoblasts (placenta like with absent villI) - high hCG - spreads early via blood --> lungs and brain, may present with 'hemorrhagic stroke' - may produce gynecomastia, symptoms of hyperthyroidism (hCG structurally similar to LH, FSH, TSH)

Answer 65

Unlike in females, mature teratoma in adult males may be malignant! Benign in children Increased hCG and/or AFP in 50% cases

Answer 66

~5% of all testicular tumors, mostly benign

Answer 67

produces androgen -> precocious puberty in children or gynecomastia in adults -Characteristic Reinke crystals (eosinophilic cytoplasmic inclusions)

Answer 68

Androblastoma from sex cord stroma, comprised of tubules and clinically silent

Answer 69

most common in older men. bilateral masses - not a primary cancer-> arises from metastatic lymphoma to testes, usually diffuse large B cell - aggressive

Answer 70

-usually bacterial: 1. young adults STDs: chlamydia and gonorrhoeae, 2. old (UTIs): E. coli and Pseudomonas - presents with dysuria, fever and chills - prostate tender on DRE - prostatic secretions show WBCs and bacteria on culture

Answer 71

- chronic inflammation, usually abacterial - dysuria with pelvic or low back pain - secretios show WBCs with negative culture

Answer 72

hyperplasia of prostatic stroma and glands -> smooth, elastic, firm nodular enlargement (since no hypertrophy, just hyperplasia) of periurethral lobes (lateral and middle) - common in men >50yr - NOT precursor to cancer - related to DHT -> acts on androgen receptors of stromal and epithelial cells -> hyperplastic nodules Clinical features: - problems starting and stopping urine stream - dysuria - increased frequency of urination - free PSA elevated Complications: impaired bladder emptying increases risk for UTIs, hydronephrosis, hypertrophy of bladder wall Treatment: -alpha1 antagonists: terazosin (if also have HTN), tamsulosin (in normotensive patients) -> relax smooth muscle - PDE-5 inhibitors - 5a-reductase inhibitors (finasteride) -> blocks conversion to DHT but takes months to produce results

Answer 73

malignant proliferation of prostatic glands, usually arises in posterior lobe (peripheral zone) - common in men >50 - diagnosed by increased total PSA, decreased fraction of free PSA (tumor produces bound PSA) and needle core biopsy - Prostatic acid phosphatase (PAP) also good tumor marker - Osteoblastic mets in bone may develop late -> presents with low back pain and increased serum ALP and PSA Treatment: prostatectomy for localized disease; advanced disease treated with hormone suppression: continuous GnRH analogs (leuprolide), Flutamide competitive inhibitor at androgen receptor

Answer 74

luminal cell layer- inner cell layer, responsible for milk production in lobules myoepithelial cell layer- outer cell layer lining ducts and lobules, contractile fxn propels milk

Answer 75

Bacterial infection of breast, usually Staph aureus - associated with fissures in nipple- breast feeding usually - presents as erythematous breast w purulent nipple discharge; may progress to abscess Treatmet: drainage (continued feeding), antibiotics (dicloxacillin)

Answer 76

inflammation of subareolar ducts (highly specialized epithelia dependent on vitamin A) - common in smokers (vitamin A deficiency) - > squamous metaplasia of lactiferous ducts blocks duct and causes inflammation -presents as subareolar mass w nipple retraction (myofibroblasts contract)

Answer 77

Inflammation with dilation (ectasia) of subareolar ducts -rare, usually in multiparous postmenopausal women **green-brown nipple discharge and periareolar mass -plasma cells seen on biopsy

Answer 78

benign, usually painless lump, usually blunt trauma related (50% do not report trauma) -abnormal calcifications on mammogram Biopsy shows necrotic fat and giant cells

Answer 79

Most common cause of 'breast lumps' from 25-menopause. -presents w pre-menstrual breast pain and multiple lesions, usually bilateral in upper outer quadrant. Fluctuates size NO increased risk for invasive carcinoma: - Fibrosis- hyperplasia of breast stroma - cystic change - fluid filled, blue dome. ductal dilation - apocrine metaplasia (abundant eosinophilic cytosol) 1. 5-2x increased risk for invasive carcinoma: - Ductal hyperplasia - sclerosing adenosis: associated with calcification and often mistaken for cancer Atypical hyperplasia -> 5x increased risk

Answer 80

benign papillary growth into large duct, slight increase risk for cancer - fibrovascular projections lined by epithelial (luminal) AND myoepithelial cells (normal cell layers) - presents as bloody nipple discharge in PREmenopausal woman - must be distinguished from papillary CARCINOMA: no myoepithelial cells, usually POSTmenopausal woman

Answer 81

Most common benign neoplasm of breast in premenopausal women - small, mobile, firm mass with well-circumscribed edges - estrogen sensitive-> grows during pregnancy and pain during menstrual cycle - benign with NO increased risk of carcinoma

Answer 82

Fibroadenoma-like tumor with overgrowth of fibrous component Large, bulky mass with 'leaf-like' projections on biopsy - most common in postmenopausal women (50s) - can be malignant

Answer 83

*increased estrogen exposure* 1. F>>M 2. Age 3. Early menarche/late menopause 4. obesity (adipose converts androgens to estrone) 5. atypical hyperplasia 6. 1st degree relative with breast cancer (BRCA1/2 mutations) 7. African American ethnicity (increases risk of triple negative breast cancer)

Answer 84

Malignant proliferation of cells in ducts (fills lumen) with NO invasion of basement membrane - often detected as calcification on mammography, does NOT usually produce mass - Biopsy calcification to distinguish difference between malignant and benign

Answer 85

subtype of DCIS - high-grade cells with necrosis and dystrophic calcification in center of ducts

Answer 86

DCIS or invasive breast cancer that extends up to ducts to involve skin of the nipple Presentation: nipple ulceration and erythema -almost always associated with underlying carcinoma Paget cells= large cells in epidermis with clear halo

Answer 87

Most common type of invasive carcinoma in breast, most invasive breast cancer - presents as firm, fibrous 'rock-hard' mass with sharp margins, detected by physical exam (>2cm) or mammography (1cm or larger) - Advanced tumors may result in dimpling of skin or retraction of nipple - biopsy usually shows duct-like structures in desmoplastic stroma

Answer 88

subtype of invasive ductal carcinoma - well-differentiated tubules that lack myoepithelial cells - good prognosis

Answer 89

subtype of invasive ductal carcinoma - carcinoma w abundant extracellular mucin 'tumor cells floating in a mucus pool' - older women (70yrs) - relatively good prognosis

Answer 90

subtype of invasive ductal carcinoma - large, high-grade cells growing in sheets with associated lymphocytes and plasma cells - grow as well-circumscribed mass that can mimic fibroadenoma on mammography - good prognosis - increased incidence in BRCA1

Answer 91

subtype of invasive ductal carcinoma - carcinoma in dermal lymphatics - presents as inflamed- erythematous, peau d' orange- swollen breast (tumor blocks lymphatics) - no discrete mass, can be mistaken for mastitis - very poor prognosis

Answer 92

malignant proliferation of cells in lobules without basement membrane proliferation - no mass or calcifications -> found incidentally on biopsy - lacks E-cadherin - multifocal and bilateral - treat with tamoxifen to reduce risk of carcinoma, close follow-up

Answer 93

invasive, orderly row of cells 'Indian file' due to lack of E-cadherin expression (no duct formation) - usually multifocal and bilateral - may show signet-ring morphology

Answer 94

Metastasis is most important factor, but since most present before metastasis --> axillary lymph node spread is most USEFUL factor Predictive factors to treatment response: Estrogen receptor (ER) Progesterone receptor (PR) HER2/neu gene amplification ER and PR (+) --> antiestrogenic agents (tamoxifen) HER2/neu (+)--> trastuzumab (Herceptin)

Answer 95

BRCA1 mutation associated with breast and ovarian (serous, also in fallopian tubes) carcinoma BRCA2 also associated with breast carcinoma in males

Answer 96

very rare - subareolar mass in older males, may produce discharge - most common is invasive ductal carcinoma Associated with BRCA2 and Klinefelter syndrome

Answer 97

47, XXY [male] Testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, female hair distribution, mild intellectual disability - usually diagnosed in puberty, common cause of hypogonadism in infertility work up (azoospermia) Primary testicular failure: hyalinization and fibrosis of seminiferous tubules -> decreased inhibin -> high FSH Leydig disfunction -> decreased testosterone -> increased LH -> increased estrogen

Answer 98

45, XO [female] resulting from mitotic or meiotic error; can be complete monosomy (45 XO) or mosaicism (45XO/46XX) - short stature (untreated) - ovarian dysgenesis (streak ovary) - shield chest - bicuspid aortic valve - preductal coarctation (femoral high LH, FSH - cystic hygromas (lymphatic malformations) usually on neck- painless doughy mass that transluminates

Answer 99

XYY Phenotypically normal, very tall Random nondisjunction event (paternal meiosis II) -normal fertility, associated with severe acne, learning disability, autism spectrum disorders

Answer 100

46 XX or 47 XXY Also called ovotesticular disorder of sex development -Both ovarian and testicular tissue present; ambiguous genitalia

Answer 101

Testosterone: high LH: high

Answer 102

Testosterone: high LH: low

Answer 103

Testosterone: low LH: high

Answer 104

Testosterone: low LH: low

Answer 105

ovaries present but external genitalia are virilized or ambiguous -excessive/inappropriate exposure to androgenic steroids during early gestation (congenital adrenal hyperplasia, exogenous androgens during pregnancy)

Answer 106

testes present but external genitalia are female or ambiguous most commonly caused by androgen insensitivity syndrome (testicular feminization)

Answer 107

Inability to synthesize estrogen from androgens - masculinization of female infants (ambiguous genitalia) - increased testosterone and androstenedione - can present with maternal virilization during pregnancy since androgens cross the placenta

Answer 108

Defect in androgen receptor -> normal appearing female; female external genitalia with scant sexual hair, rudimentary vagina - uterus and fallopian absent - patients develop testes (found in labia majora; surgically removed to prevent malignancy) - increased testosterone, estrogen and LH

Answer 109

AR, sex limited to genetic males 46XY Inability to convert testosterone to DHT -normal internal genitalia, ambiguous external genitalia until puberty when increased testosterone causes increased growth of external genitalia - Testosterone/estrogen levels normal - LH normal or elevated

Answer 110

Failure to complete puberty -hypogonadotropic hypogonadism -> defective migration of GnRH cells and formation of olfactory bulb - anosmia (no sense of smell) - decreased GnRH, FSH, LH, testosterone - infertility (low sperm in males, amenorrhea in females)