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102 Cards in this Set
- Front
- Back
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What sexual development abnormality is associated with testicular atrophy, eunuchoid body shape, tall, long extremities, gynecomastia, and female hair distribution? Cause? |
Klinefelter Syndrome [male] (XXY)
- Inactivated X chromosome (Barr body) |
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What are the effects of an extra X chromosome in a male?
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Klinefelter Syndrome [male] (XXY)
- Extra X chromosome becomes inactivated forming a Barr body - Leads to dysgenesis of seminiferous tubules → ↓ inhibin → ↑ FSH - Leads to abnormal Leydig cell function → ↓ Testosterone → ↑ LH → ↑ Estrogen |
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What are the physical findings in a male with an extra X chromosome?
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- Testicular atrophy
- Eunuchoid body shape (indeterminate) - Tall with long estremities - Gynecomastia - Female hair distribution |
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What is a common cause of hypogonadism seen in infertility work-up?
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Klinefelter Syndrome (XXY)
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What is the effect of an extra X chromosome in a male on the seminiferous tubules?
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Dysgenesis of seminiferous tubules → ↓ inhibin → ↑ FSH
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What is the effect of an extra X chromosome in a male on the Leydig cells?
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Abnormal Leydig cell function → ↓ Testosterone → ↑ LH → ↑ Estrogen
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What sexual development abnormality is associated with short stature, ovarian dysgenesis, shield chest, bicuspid aortic valve, preductal coarctation, lymphatic defects, and horseshoe kidney?
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Turner Syndrome [female] (XO)
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What are the effects of a missing X chromosome in a female?
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Turner Syndrome (XO)
- Menopause before menarche (1° amenorrhea) - ↓ Estrogen → ↑ LH and FSH - No Barr body |
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What is the physical appearance of a missing X chromosome in a female?
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Turner Syndrome
- Short stature (if untreated) - Shield chest - Webbed neck (due to lymphatic defects) - Lymphedema in feet and hands (due to lymphatic defects) |
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What are the effects of a missing X chromosome in a female on the organs?
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- Ovarian dysgenesis (streak ovary)
- Bicuspid aortic valve - Preductal coarctation (femoral < brachial pulse, notched ribs) - Lymphatic defects - Horseeshoe kidney |
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What are the consequences of a preductal coarctation? What is associated with this?
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- Femoral < brachial pulse
- Notched ribs - Associated with Turner Syndrome (XO) |
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What can cause Turner Syndrome?
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- Can result from mitotic or meiotic error
- Can be complete monosomy (45,XO) or mosaicism (eg, 45,XO/46,XX) |
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Can patients with Turner Syndrome become pregnant?
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Possible in some cases
- Oocyte donation - Exogenous estradiol-17β and progesterone |
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What is the most common cause of 1° amenorrhea?
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Turner Syndrome (45,XO)
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What sexual development abnormality is associated with phenotypically normal, ver tall, severe acne, antisocial behavior?
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Double Y males [male] (XYY)
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What are the effects of an extra Y chromosome in a male?
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- Phenotypically normal
- Very tall - Severe acne - Antisocial behavior (1-2%) - Normal fertility - Small percentage diagnosed with autism spectrum disorders |
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What chromosome disorder is associated with true hermaphroditism?
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- 46,XX
- 47,XXY |
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What is true hermaphroditism also known as? What are the signs?
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Ovotesticular disorder of sex development:
- Both ovary and testicular tissue present (ovotestis) - Ambiguous genitalia - Very rare |
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What disorder of sex hormones would cause ↑ Testosterone and ↑ LH?
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Defective Androgen Receptor
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What disorder of sex hormones would cause ↑ Testosterone and ↓ LH?
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Testosterone-secreting tumor or exogenous steroids
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What disorder of sex hormones would cause ↓ Testosterone and ↑ LH?
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1° Hypogonadism
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What disorder of sex hormones would cause ↓ Testosterone and ↓ LH?
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Hypogonadotropic hypogonadism
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What is the term for patients in which the phenotypic sex (external genitalia) does not match the gonads (testes vs ovaries)?
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"Pseudohermaphrodite", "Hermaphrodite", or "Intersex"
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What sexual development abnormality is associated with the presence of ovaries, but external genitalia are virilized or ambiguous? Cause?
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Female Pseudohermaphrodite (XX)
- Due to excessive and inappropriate exposure to androgenic steroids during early gestation - Could be due to congenital adrenal hyperplasia or exogenous administration of androgens during pregnancy |
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What sexual development abnormality is associated with the presence of testes, but external genitalia are feminine or ambiguous? Cause?
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Male Pseudohemaphrodite (XY)
- Most commonly due to androgen insensitivity syndrome (testicular feminization) |
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What can cause masculinization of female (46,XX) infants, causing ambiguous genitalia, and maternal virilization during pregnancy?
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Aromatase Deficiency
- Inability to synthesize estrogens from androgens - ↑ Serum testosterone and androstenedione → virilization - Fetal androgens can cross placenta → virilization of mother |
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What can cause a normal appearing female with female external genitalia with a rudimentary vagina and absent uterus and fallopian tubes? Other findings?
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Androgen Insensitivity Syndrome (46,XY)
- Defect in androgen receptor - Scant sexual hair appears - Patient develops testes that are often found in labia majora |
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What are the findings in a 46,XY patient with androgen insensitivity syndrome due to a defect in the androgen receptor? How do you treat this patient?
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- Normal appearing female with female external genitalia and a rudimentary vagina
- Absent uterus and fallopian tubes - Presence of testes in labia majora - Scant sexual hair - ↑ Testosterone, estrogen, LH *Must remove testes to prevent malignancy |
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What sexual development abnormality is associated with ambiguous genitalia until puberty, when masculinization and growth of external genitalia begins (normal internal genitalia)? Cause?
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5α-Reductase Deficiency
- Autosomal recessive, limited to genetic males (46, XY) - Inability to convert Testosterone to DHT - During puberty, ↑ T causes masculinization and growth of external genitalia - Testosterone, estrogen, and LH levels are norma |
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What sexual development abnormality is associated with a failure to complete puberty and a low sperm count in males? Cause?
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Kallmann Syndrome
- Form of hypogonadotropic hypogonadism - Defective migration of GnRH cells and formation of olfactory bulb - ↓ Synthesis of GnRH in hypothalamus → ↓ FSH, LH, T, and infertility - Anosmia |
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What sexual development abnormality is associated with a failure to complete puberty and amenorrhea in females? Cause?
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Kallmann Syndrome
- Form of hypogonadotropic hypogonadism - Defective migration of GnRH cells and formation of olfactory bulb - ↓ Synthesis of GnRH in hypothalamus → ↓ FSH, LH, T, and infertility - Anosmia |
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What are the findings of Kallmann Syndrome? Cause?
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- Form of hypogonadotropic hypogonadism
- Defective migration of GnRH cells and formation of olfactory bulb - ↓ Synthesis of GnRH in hypothalamus → ↓ FSH, LH, T, and infertility - In males: low sperm count - In females: amenorrhea - Anosmia |
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What is the karyotype of a complete hydatidiform mole?
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46,XX or 46,XY
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What is the karyotype of a partial hydatidiform mole?
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69,XXX or 69,XXY, or 69,XYY
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What does a hydatidiform mole come from?
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- Cystic swelling of chorionic villi
- Proliferation of chorionic epithelium (only trophoblast) |
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How do you treat all types of hydatidiform moles?
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- Dilation and curretage with methotrexate
- Monitor β-hCG until it returns to normal |
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What is the relative amount of hCG in complete vs partial moles?
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- Complete: ↑↑↑↑ hCG
- Partial: ↑ hCG |
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What is the relative uterine size in complete vs partial moles?
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- Complete: ↑ uterine size
- Partial: no change in size |
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What is the relative rate of conversion to choriocarcinoma in complete vs partial moles?
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- Complete: 2% convert
- Partial: rare |
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What is the relative amount of fetal parts in complete vs partial moles?
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- Complete: no fetal parts
- Partial: some fetal parts (PARTial = fetal PARTs) |
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What are the components of a complete vs partial moles?
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- Complete: enucleated egg + single sperm (subsequently duplicates paternal DNA) OR empty egg + 2 sperm (rare)
- Partial: 1 egg + 2 sperm (hence why fetal parts can form) |
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What is the relative risk of complications in a complete vs partial moles?
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- Complete: 15-20% malignant trophoblastic disease
- Partial: low risk of malignancy (<5%) |
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What are the symptoms in complete vs partial moles?
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- Both: vaginal bleeding
- Complete: enlarged uterus, hyperemesis, pre-eclampsia, hyperthyroidism - Partial: abdominal pain |
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What is the appearance on imaging of a complete vs partial moles?
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- Complete: honeycombed uterus or "clusters of grapes", looks like a "snowstorm" on ultrasound
- Partial: fetal parts |
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What pathology gives the uterus a "snowstorm" appearance on ultrasound? Cause?
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Complete mole
- 46,XX or 46,XY - Enucleated egg + single sperm (subsequently duplicates paternal DNA) - OR more rarely, empty egg + 2 sperm |
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What pathology gives the uterus an appearance of being "honeycombed" or as a "cluster of grapes"? Cause?
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Complete mole
- 46,XX or 46,XY - Enucleated egg + single sperm (subsequently duplicates paternal DNA) - OR more rarely, empty egg + 2 sperm |
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Which type of pathology leads to fetal parts in the uterus? Cause?
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Partial mole
- 69,XXX or 69,XXY, or 69,XYY - 2 sperm + 1 egg |
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How do you diagnose gestational hypertension (pregnancy-induced hypertension)?
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BP > 140/90 mmHg after the 20th week of gestation
- No pre-existing HTN - No proteinuria or end-organ damage |
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How do you treat gestational hypertension (pregnancy-induced hypertension)?
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Anti-hypertensives:
- α-Methyldopa - Labetalol - Hydralazine - Nifedipine Deliver at 39 weeks |
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How do you diagnose pre-eclampsia?
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- Hypertension (>140/90 mmHg) AND
- Proteinuria (>300 mg/24 hours) After 20th week of gestation to 6 weeks post-partum |
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What does hypertension (>140/90 mmHg) and proteinuria (>300mg/24 hours) before week 20 of pregnancy suggest?
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Molar pregnancy
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What does hypertension (>140/90 mmHg) and proteinuria (>300mg/24 hours) after week 20 of pregnancy suggest?
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Pre-Eclampsia
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What makes a pre-eclampsia diagnosis "severe"?
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BP > 160/110 mmHg with or without end-organ damage (eg, headache, scotoma, oliguria, ↑ AST/ALT, thrombocytopenia)
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What are some types of end-organ damage that may be associated with pre-eclampsia?
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- Headache
- Scotoma (partial loss of vision or a blind spot in an otherwise normal visual field) - Oliguria - ↑ AST/ALT - Thrombocytopenia |
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What can cause pre-eclampsia?
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Abnormal placental spiral arteries → maternal endothelial dysfunction, vasoconstriction, or hyperreflexia
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In what situations is there increased incidence of pre-eclampsia?
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- Pre-existing HTN
- Diabetes - Chronic renal disease - Auto-immune disorders |
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What are the potential complications of pre-eclampsia?
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- Placental abruption
- Coagulopathy - Renal failure - Uteroplacental insufficiency - Eclampsia |
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How do you treat a patient with pre-eclampsia?
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- Anti-hypertensives (α-methyldopa, labetalol, hydralazine, nifedipine)
- Deliver at 34 weeks (severe) or 37 weeks (mild) - IV magnesium sulfate to prevent seizures |
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How can you try to prevent seizures in mothers with pre-eclampsia?
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IV magnesium sulfate
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When should you deliver a baby to a mother with pre-eclampsia?
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- If severe (BP >160/110): 34 weeks
- If mild (BP >140/90): 37 weeks |
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How do you make a diagnosis of eclampsia?
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Pre-eclampsia + Maternal seizures
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What can cause maternal death in eclampsia?
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Stroke → intracranial hemorrhage or ARDS (acute respiratory distress syndrome)
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How do you treat mothers with eclampsia (seizures)?
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- Anti-hypertensives
- IV magnesium sulfate *Immediate delivery |
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What syndrome is a manifesation of severe pre-eclampsia, but may occur without hyperension?
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HELLP Syndrome:
- Hemolysis - Elevated Liver enzymes - Low Platelets |
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What diagnosis do you give to a mother with hemolysis, elevated liver enzymes, and low platelets? How do you treat?
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HELLP Syndrome (manifestation of severe pre-eclampsia, but may occur without HTN)
*Immediate delivery |
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What is the term for the premature separation (partial or complete) of the placenta from the uterine wall before delivery of infant? What increases the risk of this happening?
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Placental Abruption (abruptio placentae)
Risk factors: - Trauma (eg, motor vehicle accident) - Smoking - Hypertension - Pre-eclampsia - Cocaine abuse |
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How does a mother with placental abruption present? Risks?
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- ABRUPT, painful bleeding (concealed or apparent) in 3rd trimester
- Possible DIC, maternal shock, and/or fetal distress - Life threatening for mother and fetus |
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What is the term for an abnormal attachment of the placenta leading to an abnormal separation after delivery? What increases the risk of this happening?
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Placenta Accreta / Increta / Percreta
Risk factors: - Prior C-section - Inflammation - Placenta previa |
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What can go wrong if there is a defective decidual layer of the placenta? Types?
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Abnormal attachment and separation of placenta after delivery
- Placenta accreta - Placenta increta - Placenta percreta |
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What is the term for when the placenta attaches to the myometrium without penetrating it?
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Placenta Accreta (most common type)
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What is the term for when the placenta penetrates into the myometrium?
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Placenta Increta
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What is the term for when the placenta penetrates and perforates through the myometrium into the uterine serosa, invading the entire uterine wall? What can this lead to?
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Placenta percreta - placenta can even attach to the rectum or bladder
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What is the presentation of patients with placenta accreta, increta, or percreta? Risks?
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- No separation of placenta after delivery → massive bleeding
- Life threatening for mother |
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What is the difference between placenta accreta, increta, and percreta?
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- Placenta accreta: placenta attaches to myometrium without penetrating it (most common)
- Placenta increta: placenta penetrates into myometrium - Placenta percreta: placenta penetrates through myometrium and into uterine serosa |
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What are the risk factors for placenta accreta, increta, and percreta?
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- Prior C-section
- Inflammation - Placenta previa |
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What is the term for the attachment of the placenta to the lower uterine segment (lying near, partially covering, or completely covering the internal cervical os)?
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Placenta Previa
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What happens in Placenta Previa?
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Attachment of the placenta to the lower uterine segment, with one of the following relationships to the internal cervical os:
- Lying near - Partially covering - Completely covering |
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What are the risk factors for Placenta Previa?
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- Multiparity
- Prior C-section |
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What does a prior C-section increase your risk for?
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- Placenta accreta / increta / percreta
- Placenta previa |
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What can happen if there is retained placental tissue after pregnancy?
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- May cause postpartum hemorrhage
- ↑ Risk of infection |
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What is the most common location for an ectopic pregnancy?
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Most often in the ampulla of the fallopian tube
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When should you suspect an ectopic pregnancy? How do you confirm?
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- Amenorrhea
- Lower than expected rise in hCG based on dates - Sudden lower abdominal pain with or without bleeding * Confirm with ultrasound |
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What can an ectopic pregnancy be confused with?
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Appendicitis
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What can increase your risk of having an ectopic pregnancy?
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- History of infertility
- Salpingitis (PID) - Ruptured appendix - Prior tubal surgery |
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What are the types of amniotic fluid abnormalities?
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- Polyhydramnios
- Oligohydramnios |
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What is the definition of polyhydramnios? What is it associated with?
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>1.5 - 2.0 L of amniotic fluid
Associated with: - Fetal malformations (eg, esophageal / duodenal atresia, anencephaly - inability to swallow amniotic fluid) - Maternal diabetes - Fetal anemia - Multiple gestations |
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What is the definition of oligohydramnios? What is it associated with?
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<0.5 L of amniotic fluid
Associated with: - Placental insufficiency - Bilateral renal agenesis - Posterior urethral valves (in males) and resultant inability to excrete urine |
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What can oligohydramnios cause?
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Potter sequence
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What is an inability to swallow amniotic fluid associated with? Possible causes?
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Polyhydramnios (>1.5 - 2.0 L of amniotic fluid)
- Associated with esophageal and duodenal atresia, as well as anencephaly |
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What is an inability to produce/excrete urine in utero associated with? Possible causes?
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Oligohydramnios (<0.5L of amniotic fluid)
- Associated with bilateral renal agenesis and posterior urethral valves in males |
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What are the types of cervical pathology?
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- Dysplasia and carcinoma in situ
- Invasive carcinoma |
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What are the risk factors for developing cervical dysplasia and carcinoma in situ?
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** Multiple sex partners
- Smoking - Early sexual intercourse - HIV infection |
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What are the histologic changes associated with dysplasia and carcinoma in situ of the cervix?
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- Disordered epithelial growth
- Begins at basal layer of squamoucolumnar junction (transition zone) and extends outward - Koilocytes in cervical condyloma: note wrinkled "raisinoid" nuclei, some of which have clearing or a perinuclear halo |
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How do you classify cervical dysplasia and carcinoma in situ?
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CIN 1, CIN 2, or CIN3 (severe dysplasia or carcinoma in situ)
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What causes cervical dysplasia / carcinoma in situ?
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HPV 16 and HPV 18
- Produce E6: inhibits p53 suppressor gene - Produce E7: inhibits RB suppressor gene |
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What can happen if cervical dysplasia / carcinoma in situ is not treated?
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Can progress slowly to invasive carcinoma
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How do you diagnose cervical dysplasia / carcinoma in situ?
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- Detected with Pap smear
- May present as abnormal vaginal bleeding (often post-coital) |
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What is the function of the HPV 16 and 18 E6 gene product?
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Inhibits p53 tumor suppressor gene
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What is the function of the HPV 16 and 18 E7 gene product?
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Inhibits RB tumor suppressor gene
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What type of carcinoma is typically found on the cervix?
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Invasive Squamous Cell Carcinoma
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What can be the complications of Invasive Squamous Cell Carcinoma of the cervix?
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Lateral invasion can block ureters, causing renal failure
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What is the purpose of a Pap smear?
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Catch cervical dysplasia (eg, koilocytes) before it progresses to invasive carcinoma
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