42 Questions
Which of the following is a clinical feature of Klinefelter syndrome?
Small, firm testes
What is the most common cause of hypogonadism seen in infertility workup?
Klinefelter syndrome
Which of the following is a diagnostic feature of Klinefelter syndrome?
Presence of inactivated X chromosome (Barr body)
What is the pathophysiology of Klinefelter syndrome?
Dysgenesis of seminiferous tubules leads to decreased inhibin B and increased FSH levels
What is a common risk associated with Klinefelter syndrome?
Increased risk of breast cancer
Which of the following is a clinical feature of Klinefelter syndrome?
Small, firm testes
What is the most common cause of hypogonadism seen in infertility workup?
Dysgenesis of seminiferous tubules
What is a diagnostic feature of Klinefelter syndrome?
Decreased inhibin B and increased FSH levels
What is the pathophysiology of Klinefelter syndrome?
Abnormal Leydig cell function results in decreased testosterone and increased LH levels
What is a common risk associated with Klinefelter syndrome?
Increased risk of breast cancer
True or false: Klinefelter syndrome is characterized by small, firm testes.
True
True or false: Gynecomastia is a common clinical feature of Klinefelter syndrome.
True
True or false: Klinefelter syndrome leads to decreased levels of testosterone and increased levels of LH.
True
True or false: Klinefelter syndrome is a common cause of hypogonadism seen in infertility workup.
True
True or false: Klinefelter syndrome carries an increased risk of breast cancer.
True
True or false: Turner syndrome is characterized by the presence of an additional X chromosome (47, XXX)?
False
True or false: Growth hormone therapy can prevent short stature in individuals with Turner syndrome due to SHOX gene involvement?
True
True or false: Turner syndrome is associated with streak ovaries?
True
True or false: Individuals with Turner syndrome often have a narrow chest with widely spaced nipples?
False
True or false: Bicuspid aortic valve is a common cardiovascular abnormality seen in Turner syndrome?
True
True or false: Coarctation of the aorta is characterized by a femoral pulse that is stronger than the brachial pulse?
False
True or false: Lymphatic defects in Turner syndrome can lead to a webbed neck or cystic hygroma, and lymphedema in the feet and hands?
True
Which of the following is a clinical feature of Turner syndrome?
Narrow chest with widely spaced nipples
True or false: Lymphatic defects in Turner syndrome can lead to a webbed neck or cystic hygroma, and lymphedema in the feet and hands?
True
What is a diagnostic feature of Turner syndrome?
Streak ovaries
True or false: Bicuspid aortic valve is a common cardiovascular abnormality seen in Turner syndrome?
True
True or false: Growth hormone therapy can prevent short stature in individuals with Turner syndrome due to SHOX gene involvement?
True
True or false: Turner syndrome leads to decreased levels of estrogen and increased levels of LH?
True
What is the most common cause of primary amenorrhea in Turner syndrome?
Ovarian dysgenesis
Which of the following is a common phenotypic feature of individuals with Double Y syndrome (XYY)?
Learning disability
Which of the following is NOT associated with Double Y syndrome (XYY)?
Infertility
What is the most common symptom of Double Y syndrome (XYY)?
Short stature
Which condition is characterized by the inability to synthesize endogenous estrogens?
Aromatase deficiency
Which condition is characterized by a defect in the androgen receptor, resulting in female-appearing genetic males?
Androgen Insensitivity Syndrome
Which condition is characterized by the inability to convert testosterone to dihydrotestosterone (DHT)?
5α-reductase deficiency
Which condition is characterized by defective migration of neurons and failure of olfactory bulbs to develop?
Kallmann syndrome
Which condition is characterized by virilization of both female infants and the mother?
Aromatase deficiency
Which condition is characterized by female external genitalia with scant axillary and pubic hair?
Androgen Insensitivity Syndrome
Which condition is characterized by normal testosterone and estrogen levels, normal or elevated LH levels, and normal internal genitalia?
5α-reductase deficiency
Which condition is characterized by decreased synthesis of GnRH in the hypothalamus, leading to low levels of FSH, LH, and testosterone?
Kallmann syndrome
Which condition is characterized by elevated testosterone, estrogen, and LH levels?
Aromatase deficiency
Which condition is characterized by infertility in males with low sperm count and amenorrhea in females?
Kallmann syndrome
Test your knowledge on Klinefelter syndrome with this quiz! Learn about the clinical features, diagnostic criteria, and common causes of this genetic disorder, which affects males with an extra X chromosome.
Make Your Own Quizzes and Flashcards
Convert your notes into interactive study material.
Get started for free
