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Reproductive
FA complete review part 3 Pathology General and Pregnancy
| Question | Answer |
|---|---|
| What is the most common cause of Aneuploidy? | Meiotic nondisjunction |
| List of sex chromosome disorders: | 1. Klinefelter syndrome 2. Turner syndrome 3. Double Y males 4. Ovotesticular disorder of sex development |
| What is the associated karyotype of Klinefelter syndrome? | 47, XXY |
| What are the clinical features of Klinefelter syndrome? | 1. Testicular atrophy 2. Eunuchoid body shape 3. Tall 4. Long extremities 5. Gynecomastia 6. Female hair distrubution |
| The presence of inactivated X chromosome (Barr body) in a male. Dx? | Klinefelter syndrome |
| What is a common cause of Hypogonadism? | Klinefelter syndrome |
| Which are the two structural abnormalities in Klinefelter syndrome, that produce hormonal changes? | 1. Dysgenesis of seminiferous tubules 2. Abnormal Leydig cell function |
| In Klinefelter syndrome, the dysgenesis of the seminiferous tubules has which consequences? | Decrease inhibin B secretion which leads to an elevated FSH. |
| What causes the elevated FSH in Klinefelter syndrome? | Low levels of inhibin B due to dysgenesis of seminiferous tubules |
| What are the results of abnormal Leydig function seen in Klinefelter syndrome? | Decrease testosterone leading to elevated LH which causes increase in Estrogen |
| Testosterone in Klinefelter syndrome is, low, normal, or elevated? | Low |
| FSH and LH in Klinefelter syndrome are ____________. | Elevated |
| Which sex hormone is elevated in a man with Klinefelter syndrome? | Estrogen |
| The elevation of FSH or LH causes elevated estrogen in Klinefelter syndrome? | LH |
| Which cell's abnormal function, in Klinefelter syndrome, is responsible for the low levels of testosterone? | Leydig cell |
| Low testosterone, mildly elevated FSH, LH, and estrogen. Dx? | Klinefelter syndrome |
| Associated karyotype of Turner syndrome | Female, 45, XO |
| 45XO. Dx? | Turner syndrome |
| List of clinical features seen in Turner syndrome: | 1. Short stature 2. Ovarian dysgenesis (streak ovary) 3. Shield chest 4. Bicuspid aortic valve 5. Coarctation of the aorta 4. Lymphatic defects 7, Horseshoe kidney |
| Another form to refer to the ovarian dysgenesis present in Turner syndrome? | Streak ovary |
| Coaratoin of aorta causing Femoral < brachial pulse. This features is commonly seen in ______________ syndrome. | Turner syndrome |
| What are the lymphatic defects seen with Turner syndrome? | Webbed neck or cystic hygroma; Lymphedema in feet, hands |
| Kidney defect or complication of Turner syndrome? | Horseshoe kidney |
| Horseshoe kidney is often seen with which sex chromosome disorder? | Turner syndrome |
| MCC of Primary amenorrhea | Turner syndrome |
| How many Barr bodies are associated with Turner syndrome? | Zero |
| Menopause before menarche. Dx? | Turner syndrome |
| Decreased levels of _______________ lead to increased LH and FSH in Turner syndrome. | Estrogen |
| Estrogen is ______________ in Turner syndrome. | Decreased |
| Estrogen is ________________ in Klinefelter syndrome. | Elevated |
| What is a rare cause of Turner syndrome? | Mitotic error --> Mosaicism (45XO, 46, XX) |
| 45, XO/46, XX. Dx? | Turner syndrome due to mosaicism caused by mitotic error. |
| Is pregnancy possible in Turner syndrome? | Yes, in some cases with IVF, exogenous estradiol-17B and progesterone therapy. |
| Karyotype of Double Y males | 47, XYY |
| What are some features of Double Y males? | 1. Very tall 2. Severe acne, 3. Learning disability (at times) 4. Autism spectrum disorders |
| 46, XX > 46, XY. Dx? | Ovotesticular disorder of sex development |
| Both ovarian and testicular tissue present (ovotestis); ambiguous genitalia | Ovotesticular disorder of sex development |
| What used to be the old name for Ovotesticular disorder of sex development? | True hermaphroditism |
| Which disorders of sex hormones have elevated levels of Testosterone? | 1. Defective androgen receptor 2. Testosterone-secreting tumor, exogenous steroids |
| Low testosterone + High LH. Dx? | Hypergonadotropic hypogonadism |
| Levels of testosterone and LH in hypogonadotropic hypogonadism. | Low testosterone and low LH |
| Defective androgen receptor has elevated levels of ___________ and __________. | Testosterone and LH |
| Overall definition of disorders of sex development | Disagreement between the phenotypic sex and the gonadal sex |
| Phenotypic sex is based on: | External genitalia, influence by hormonal levels |
| Sex hormone imbalance most likely will cause what type of sex abnormality-type? | Phenotypic |
| Gonadal sex: | Testes vs Ovaries; corresponds with Y chromosome |
| 46, XX DSD? | Ovaries present, but external genitalia are virilized or ambiguous |
| What is the MCC of 46, XX DSD? | Excessive and inappropriate exposure to androgens steroids during early gestation |
| 46, XY DSD? | Testes are present, but external genitalia are female or ambiguous |
| What is the most common form of 46, XY DSD? | Androgen-insensitivity syndrome |
| What is another term used for Androgen-insensitivity syndrome? | Testicular feminization |
| Male with testes, but female/ambiguous genitalia. Dx? | Androgen-insensitivity syndrome |
| What are common causes of FEMALE (XX) Hypergonadotropic hypogonadism? | Turner syndrome, Genetic mosaicism, pure gonadal dysgenesis |
| What type of conditions are classified as Hypogonadotropic hypogonadism? | CNS lesions, and Kallmann syndrome |
| Females with Hypergonadotropic hypogonadism are seen with ______________ but no breasts. | Uterus |
| Which condition in females is seen with no uterus but with breasts? | Utervaginal agenesis |
| No uterus but (+) breast in man. Dx? | Androgen insensitivity |
| Inability to synthesize estrogens from androgens. Dx? | Placental aromatase deficiency |
| What is the most common presentation of Placental aromatase deficiency? | Masculinization of female (46, XX DSD) infants, increase serum testosterone and androstenedione. |
| What is a symptom or features of a pregnant mother with child dx with placental aromatase deficiency? | Maternal virilization since fetal androgens can cross the placenta |
| Defect in androgen receptor resulting in normal-appearing female. Dx? | Androgen insensitivity syndrome |
| Are levels of testosterone, estrogen, and LH, elevated or decreased in Androgen insensitivity syndrome? | Elevated |
| A woman with diagnosed androgen insensitivity syndrome may have: | Normal functioning testes found in the labia majora |
| Inheritance mode of 5a-reductase insensitivity. | Autosomal recessive |
| Which condition is limited to genetic males (46, XY DSD)? | 5a-reductase deficiency |
| Which condition is seen to be controlled by puberty? | 5a-reductase deficiency |
| How are levels of testosterone, estrogen, and LH in 5a-reductase deficiency? | Normal |
| Failure to complete puberty; a form of hypogonadotropic hypogonadism. Dx? | Kallmann syndrome |
| What is the cause of Kallmann syndrome? | Defective migration of GnRH-releasing neurons and subsequent failure of GnRH-releasing olfactory bulbs to develop |
| What is a featured or key symptom of Kallmann syndrome? | Anosmia |
| Expected levels of androgens, and other sex hormones in Kallmann syndrome | Decreased levels of GnRH, FSH, LH, and testosterone |
| Why is the infertility in men with Kallmann syndrome? | Low sperm count |
| Infertility of women with Kallmann syndrome is due to: | Amenorrhea |
| Patient that cannot conceive and has anosmia. Dx? | Kallmann syndrome |
| Which of the Five senses is affected in Kallmann syndrome? | Smell |
| Which is a commonly suspected sex chromosome condition in cases the patient complains of not been able to smell food? | Kallmann syndrome |
| Which is the main hormone affected by decreased synthesis in Kallmann syndrome? | GnRH in the hypothalamus |
| Which cells are affected in Kallmann syndrome? | GnRH-releasing neurons |
| The defective GnRH-hypothalamic neurons in Kallmann syndrome lead to affection of? | GnRH-releasing olfactory bulbs to develop leading to decreased GnRH hypothalamic synthesis---> anosmia. |
| Anosmia is strongly associated with? | Kallmann syndrome |
| Cystic swelling of chorionic villi and proliferation of chorionic epithelium (only trophoblast). Dx? | Hydatidiform mole |
| What is a hydatidiform mole? | Cystic swelling of chorionic villi and proliferation of chorionic epithelium. |
| Which part of the chorionic epithelium is proliferated in a Hydatidiform mole? | Trophoblast |
| What is the classical clinical presentation (symptoms) of Hydatidiform mole? | 1. Vaginal bleeding 2. Uterine enlargement more than expected 3. Pelvic pressure/pain |
| What condition is often associated with hCG-mediated sequelae? | Hydatidiform mole |
| What is the hCG-mediated sequelae seen in Hydatidiform moles? | - Early preeclampsia (before 20 weeks), - Theca-lutein cysts - Hyperemesis gravidarum - Hyperthyroidism |
| Theca-lutein cysts is a complication seen with __________________ mole. | Hydatidiform mole |
| Early preeclampsia is defined as: | Before 20 weeks |
| What is hyperemesis gravidarum? | A pregnancy complication that is characterized by severe nausea, vomiting, weight loss, and possibly dehydration |
| What common endocrinological disorder is seen with a woman with a Hydatidiform mole? | Hyperthyroidism |
| What is the most common treatment for Hydatidiform moles? | 1. Dilation and curettage 2. Methotrexate |
| What anticancer drug is used in treating Hydatidiform moles? | Methotrexate |
| What are the two types of Hydatidiform moles? | Complete mole and Partial mole |
| What are the associated karyotype of Complete hydatidiform moles? | 46, XX; 46, XY |
| What are the components of Complete hydatidiform moles? | Most commonly enucleated egg + single sperm |
| Is there fetal parts in a complete hydatidiform mole? | No fetal parts |
| Which type of hydatidiform mole presents with increasing uterine size? | Complete mole |
| Which type of hydatidiform mole has severely increased levels of hCG? | Complete mole |
| What are the imaging features of a Complete Hydatidiform mole? | 1. "Honeycombed" uterus or "cluster of grapes" gross physical inspection, 2. "Snowstorm" on ultrasound |
| Which type of hydatidiform mole has higher risk of malignancy? | Complete mole |
| What are the associated karyotypes of a Partial hydatidiform mole? | 3; - 69, XXX, - 69, XXY, - 69, XYY |
| What are the components of a Partial Hydatidiform mole? | 2 sperm + 1 egg |
| 2 sperm and 1 egg often cause which type of hydatidiform mole? | Partial mole |
| Which type of Hydatidiform mole is seen with fetal parts? | Partial mole |
| Is a partial hydatidiform mole seen with fetal parts? | Yes; (+) for fetal parts |
| Which hydatidiform is seen with a minimal or slight increase in hCG level? | Partial mole |
| Which type of Hydatidiform mole is less associated with malignancy and choriocarcinoma development? | Partial mole |
| Rare trophoblastic malignancy, that may occur during or after pregnancy in mother or baby. Dx? | Choriocarcinoma |
| Which kinds of trophoblasts are included or proliferated in Choriocarcinoma? | Cytotrophoblast and syncytiotrophoblast |
| What are some associated characteristics of Choriocarcinoma? | - No chorionic villi present - Increased frequency of bilateral/multiple theca-lutein cysts |
| What are symptoms seen with Choriocarcinoma? | 1. abnormal increase in B-hCG 2. SOB 3. Hemoptysis |
| What malignancy is associated with "cannonball" metastases to the lungs? | Choriocarcinoma |
| Hematogenous spread of Choriocarcinoma to lungs, is often referred as: | "cannonball" metastases |
| What is Abruptio placentae? | Premature separation of placenta from uterine wall before delivery of infant. |
| What are some risk factor of Abruptio placentae? | Trauma, smoking, hypertension, preeclampsia, and cocaine abuse. |
| Clinical presentation of Abruptio placentae? | Abrupt, painful bleeding in third trimester. |
| Which pregnancy complication is seen as sudden and painful bleeding in the third trimester? | Abruptio placentae |
| What are possible complications of Abruptio placentae? | DIC, maternal shock, and fetal distress |
| Life threatening pregnancy complication for mother and fetus. | Abruptio placentae |
| What is Morbidly adherent placenta? | Defective decidual layer leading to abnormal attachment and separation after delivery. |
| What are risk factors leading to Morbidly adherent placenta? | 1. Prior C-section or uterine surgery involving myometrium, 2. Inflammation 3. Placenta previa 4. Advanced maternal age 5. Multiparity |
| What are the 3 main types of Morbidly adherent placenta? | 1. Placenta accreta 2. Placenta increta 3. Placenta percreta |
| What is the distinguishing factor among all 3 types of morbidly adherent placenta conditions? | The depth of penetration |
| Placenta accreta: | Placenta attaches to myometrium without penetrating it |
| What is the most common type of morbidly adherent placenta? | Placenta accreta |
| Placenta is seen attached to myometrium, but does not penetrate it. Dx? | Placenta accreta |
| What is placenta increta? | Placenta penetrates into myometrium |
| Which morbidly adherent placenta condition is seen with placenta penetrating the myometrium, but does not perforate it? | Placenta increta |
| What is the degree of depth seen in Placenta percreta? | Placenta penetrates and perforates the myometrium and into the uterine serosa |
| Which type of morbidly adherent placenta condition is seen with attachment and/or penetration into the Uterine serosa? | Placenta percreta |
| Which morbidly adherent placenta type is the one with the deepest penetration ? | Placenta percreta |
| If placenta attaches to myometrium but does not penetrate it. Dx? | Placenta accreta |
| Which morbidly adherent placenta is seen with invasion of the entire uterine wall? | Placenta percreta |
| What is a serious complication of Placenta percreta? | Placental attachment to rectum or bladder leading to hematuria |
| Which placenta-associated condition is possible seen with hematuria? | Placenta percreta |
| What type of pregnancy complication is seen with failed separation of placenta after delivery? | Morbidly adherent placenta |
| Possible cause of Sheehan syndrome | Morbidly adherent placenta |
| Attachment of placenta to lower uterine segment over internal cervical os. Dx? | Placenta previa |
| What is the definition of Placenta previa? | Attachment of the placenta to the lower uterine segment over internal cervical os. |
| Which type of placenta condition is associated with blockage of the internal cervical os? | Placenta previa |
| Associated with painless third trimester bleeding. | Placenta previa |
| Painful 3rd trimester bleeding. Dx? | Abruptio placentae |
| Painless 3rd trimester bleeding. Dx? | Placenta previa |
| Fetal vessels run over, or in close proximity to, cervical os. Dx? | Vasa previa |
| What are the possible consequences of Vasa previa? | Vessel rupture and exsanguination, and fetal death |
| What is the common clinical presentation triad seen with Vasa previa? | 1. Membrane rupture 2. Painless vaginal bleeding 3. Fetal tachycardia |
| Which two pregnancy conditions are often seen with painless vaginal bleeding? | Vasa previa and Placenta previa |
| What is considered fetal bradycardia? | < 110 bpm |
| What is the most common association to the development of Vasa previa? | Velamentous umbilical cord insertion |
| What is Velamentous umbilical cord insertion? | Cord insets in chorioamniotic membrane rather than placenta |
| Umbilical cord is inserted in chorioamniotic membrane and not in the placenta. | Velamentous umbilical cord insertion |
| What is the result of velamentous umbilical cord insertion in Vasa previa? | Fetal vessels travel to placenta unprotected by Wharton jelly |
| Unprotected fetal vessels traveling to placenta is often seen in: | Vasa previa due to velamentous umbilical cod insertion |
| What are the 4 MCC of Postpartum hemorrhage? | 1. Tone (uterine atony; MC) 2. Trauma 3. Thrombin (coagulopathy) 4. Tissue (retained products of conception) |
| What is the most common cause of postpartum hemorrhage? | Uterine atony |
| Implantation of fertilized ovum in a site other than the uterus, most often in ampulla of Fallopian tube. Dx? | Ectopic pregnancy |
| Where is the MC location for implantation in Ectopic pregnancy? | Ampulla of Fallopian tube |
| What are concerning factors that may lead to suspect Ectopic pregnancy? | - Hx of amenorrhea - Lower-than-expected rise in hCG based on dates - Sudden lower abdominal pain |
| What pregnancy complication is often mistaken for appendicitis? | Ectopic pregnancy |
| List of Ectopic pregnancy risk factors: | 1. Prior ectopic pregnancy 2. Hx of infertility 3. Salpingitis (PID) 4. Ruptured appendix 5. Prior tubal surgery 6. Smoking 7. Advanced maternal age |
| What are the two main amniotic fluid abnormality? | Polyhydramnios and Oligohydramnios |
| Too much amniotic fluid. | Polyhydramnios |
| What are the associated causes of Fetal polyhydramnios? | 1. Fetal malformations 2. Maternal diabetes 3. Fetal anemia 4. Multiple gestations |
| What are the common fetal malformations that cause Fetal polyhydramnios? | -Esophageal/duodenal atresia, and, - Anencephaly |
| How do fetal malformation lead to fetal Polyhydramnios? | Result in inability to swallow amniotic fluid |
| A diabetic mother places fetus in increased risk of which amniotic fluid condition? | Fetal polyhydramnios |
| Too little amniotic fluid | Oligohydramnios |
| What are the associated causes of Fetal Oligohydramnios? | Placental insufficiency, bilateral renal agenesis, posterior urethral valves (in males) and resultant inability to excrete urine. |
| Fetus cannot excrete urine. Dx? | Fetal oligohidramnios |
| What is a consequence of profound or severe fetal oligohydramnios? | Potter sequence |
| Potter sequence is a serious consequence of Polyhydramnios or Oligohydramnios? | Oligohydramnios |
| What is the definition of Gestational hypertension? | BP > 140/90 mm Hg after the 20th week of pregnancy |
| List of medications to treat gestational hypertension | Hydralazine a-methyldopa Labetalol Nifedipine |
| Preeclampsia is: | New-onset hypertension with either proteinuria or end-organ dysfunction after 20th week of gestation. |
| Hypertension + proteinuria in less than 20 weeks of gestation suggests: | Molar pregnancy |
| What is the cause of Preeclampsia? | Abnormal placental spiral arteries lead to endothelial dysfunction, vasoconstriction, and ischemia |
| What preexisting conditions increase risk of developing preeclampsia? | Hypertension, diabetes, CKD, autoimmune disorders such as Antiphospholipid antibody syndrome. |
| Complications of Preeclampsia? | - Placenta abruption - Coagulopathy - Renal failure - Pulmonary edema (PE) - Uteroplacental insufficiency - May lead to eclampsia and or HELLP syndrome |
| Preeclampsia + maternal seizures. Dx? | Eclampsia |
| Eclampsia may lead to maternal death due to: | Stroke, intracranial hemorrhage, or ARDS |
| What is the treatment for Eclampsia? | 1. IV Magnesium sulfate 2. Antihypertensives 3. Immediate delivery |
| What is the most characteristic (USMLE relevant) treatment option for Preeclampsia and Eclampsia? | IV magnesium sulfate |
| What are the components of HELLP syndrome? | Hemolysis Elevated Liver enzymes Low Platelets |
| What is a manifestation of severe Preeclampsia? | HELLP syndrome |
| What type of RBCs are seen in blood smear of HELLP syndrome? | Schistocytes |
| What are severe consequences of HELLP syndrome? | DIC and hepatic subcapsular hematomas leading to rupture and ultimately severe hypotension. |
| What is the treatment of HELLP syndrome? | Immediate delivery |
| What is the only definitive treatment for Preeclampsia? | Immediate delivery |
| What is the most common type of gynecologic tumor in the USA? | Endometrial |
| Which is the most common type of gynecologic tumor worldwide? | Cervical |
| Why is cervical cancer the most common gynecologic tumor worldwide? | Lack of screening or HPV vaccination |
| Which gynecologic tumor type has the worst prognosis? | Ovarian |
| Which type of gynecologic tumor has the best prognosis? | Cervical |
| Vulvar pathologies are divided into which two categories? | Non-neoplastic and Neoplastic vulvar pathologies |
| What are the Non-neoplastic vulvar pathologies? | 1. Bartholin cyst and abscess 2. Lichen sclerosus 3. Lichen simplex chronicus |
| What is the cause of Bartholin cysts or abscesses? | Blockage of Bartholin gland duct causing accumulation gland fluid |
| What type of infections are often associated with Bartholin cysts/abscess? | N. gonorrhoea infection |
| What is Lichen sclerosus? | Non-neoplastic vulvar pathology due to thinning of epidermis with fibrosis/sclerosis of dermis. |
| Porcelain-white plaques with a red or violet border in the vulva. Dx? | Lichen sclerosus |
| Which population of women are most at risk of developing Lichen sclerosus? | Postmenopausal women |
| Thinning of epidermis with fibrosis/sclerosis of dermis of the vulva. Dx? | Lichen sclerosus |
| Hyperplasia of vulvar squamous epithelium. Dx? | Lichen simplex chronicus |
| What is the presentation of Lichen simplex chronicus? | Leathery, thick vulvar skin with enhanced skin markings due to chronic rubbing or scratching. |
| What are the two main neoplastic vulvar pathologies? | 1. Vulvar carcinoma 2. Extramammary Paget disease |
| Carcinoma from squamous epithelial lining of vulva. Rare. Dx? | Vulvar carcinoma |
| Vulvar carcinoma presents along with ____________. | Leukoplakia |
| What is HPV-related vulvar carcinoma? | Associated with types HPV 16 and 18; Seen in persons with multiple partners and early coitarche. |
| What is a common cause of Non-HPV vulvar carcinoma? | Long-standing Lichen sclerosus |
| Intraepitelial vulvar adenocarcinoma. Dx? | Extramammary Paget disease |
| What are some symptoms of Extramammary Paget disease of the vulva? | Pruritus, erythema, crusting, and ulcers. |
| What are the most common vaginal tumors? | 1. Vaginal squamous cell carcinoma 2. Clear cell adenocarcinoma 3. Sarcoma botryoides |
| What is the MCC of Vaginal squamous cell carcinoma ? | Secondary to cervical SCC |
| Vaginal Clear Cell adenocarcinoma effects: | Women who had exposure to DES in utero |
| What exposure in utero leads to vaginal clear cell adenocarcinoma? | DES |
| What is Sarcoma botryoides? | Embryonal rhabdomyosarcoma varrian that affects girls < 4 years old |
| How si the presentation of Sarcoma botryoides? | Clear, grape-like, polypoid mass emerging from vagina |
| What vaginal tumor has spindle-shaped cells, (+) desmin and present in very young girls? | Sarcoma botryoides |
Created by:
rakomi
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