Disorders of Sexual Development
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Questions and Answers

A genetic male with ambiguous genitalia is likely to have which of the following disorders?

  • Klinefelter syndrome
  • 46, XY DSD (correct)
  • XX female exposed to excessive androgens
  • Turner syndrome

    • What is the normal default genital development?

  • Ambiguous
  • Female (correct)
  • Unknown
  • Male

    • What is the term for the presence of male and female physical characteristics in the same individual?

  • Adrenal hyperplasia
  • Hermaphroditism (correct)
  • Androgen insensitivity
  • Hyperandrogenism

    • A fetus is most vulnerable to androgen exposure during which week of gestation?

    <p>7-12 weeks</p> Signup and view all the answers

    What is the term for the inability of cells to respond to androgens in XY males?

    <p>Complete androgen insensitivity syndrome</p> Signup and view all the answers

    What is the purpose of the karyotype test?

    <p>To diagnose disorders of sexual development</p> Signup and view all the answers

    What is the term for the presence of male factors in XX females?

    <p>46, XX DSD</p> Signup and view all the answers

    What is the term for the absence of male factors in XY males?

    <p>46, XY DSD</p> Signup and view all the answers

    What is the term for the combination of male and female physical characteristics in the same individual?

    <p>Ovotesticular DSD</p> Signup and view all the answers

    What is the typical treatment for disorders of sexual development?

    <p>Genital reassignment surgery</p> Signup and view all the answers

    What is the main characteristic of Swyer Syndrome?

    <p>Absence of both ovarian and testicular tissue</p> Signup and view all the answers

    What is the typical presentation of a patient with 5-α Reductase Deficiency?

    <p>XY male with ambiguous genitalia and masculinization at puberty</p> Signup and view all the answers

    What is the primary defect in Congenital Adrenal Hyperplasia (CAH)?

    <p>21-α Hydroxylase Deficiency</p> Signup and view all the answers

    What is the primary effect of Androgen Insensitivity Syndrome (CAIS)?

    <p>Feminization of male fetuses</p> Signup and view all the answers

    What is the primary cause of Gestational Hyperandrogenism?

    <p>Maternal source of androgens in pregnancy</p> Signup and view all the answers

    What is the primary manifestation of Kallman Syndrome?

    <p>Hypogonadotropic hypogonadism plus anosmia</p> Signup and view all the answers

    What is the primary diagnostic test for Congenital Adrenal Hyperplasia (CAH)?

    <p>17-hydroxyprogesterone levels</p> Signup and view all the answers

    What is the primary effect of 5-α Reductase Deficiency on testosterone?

    <p>Normal testosterone levels with decreased DHT levels</p> Signup and view all the answers

    What is the primary cause of Androgen Insensitivity Syndrome (CAIS)?

    <p>Mutations in the androgen receptor gene</p> Signup and view all the answers

    What is the primary treatment for Swyer Syndrome?

    <p>Hormone replacement therapy with estrogen and progestogen</p> Signup and view all the answers

    What characterizes a chromosomal disorder known as Klinefelter syndrome?

    <p>XXY chromosomes</p> Signup and view all the answers

    What is hermaphroditism?

    <p>A disorder of sexual development (DSD) where an individual has both male and female reproductive organs</p> Signup and view all the answers

    What is typically present in individuals with Swyer Syndrome?

    <p>Ambiguous genitalia</p> Signup and view all the answers

    Which symptom is NOT typically associated with Congenital adrenal hyperplasia (CAH) in females?

    <p>Hypertension</p> Signup and view all the answers

    What is NOT a symptom of gestational hyperandrogenism in pregnant women?

    <p>Amenorrhea (absence of menstruation)</p> Signup and view all the answers

    What is characteristic of Swyer Syndrome?

    <p>Absence of both ovarian and testicular tissue</p> Signup and view all the answers

    What is Androgen Insensitivity Syndrome (AIS) characterized by?

    <p>Complete or partial inability to respond to androgens</p> Signup and view all the answers

    What is NOT a type of chromosomal disorder?

    <p>Hypertension</p> Signup and view all the answers

    What does 'TORCH' stand for in TORCH infections?

    <p>Toxoplasmosis, Rubella, Cytomegalovirus, Herpes</p> Signup and view all the answers

    Which of the following is NOT a genetic disorder?

    <p>Celiac Disease</p> Signup and view all the answers

    Which of the following infections can cause congenital deafness?

    <p>Cytomegalovirus</p> Signup and view all the answers

    What are the typical symptoms in a fetus of congenital toxoplasmosis?

    <p>Hydrocephalus, kidney failure, and liver toxicity</p> Signup and view all the answers

    What is the typical appearance of primary syphilis symptom in pregnant women?

    <p>Chancre</p> Signup and view all the answers

    Which of the following is NOT a common symptom of Parvovirus B19 infection?

    <p>Watery diarrhea</p> Signup and view all the answers

    Which of the following is a symptom of rubella?

    <p>Maculopapular rash</p> Signup and view all the answers

    Which condition can cause a Blueberry Muffin Baby appearance?

    <p>Congenital rubella syndrome</p> Signup and view all the answers

    What is the most common cause of congenital deafness?

    <p>Cytomegalovirus</p> Signup and view all the answers

    What is a common symptom of Toxoplasmosis?

    <p>Hydrocephalus</p> Signup and view all the answers

    Which of the following infections can cause congenital anomalies?

    <p>All of the above</p> Signup and view all the answers

    What is the typical appearance of a congenital rubella syndrome rash?

    <p>Blue or purple skin lesions</p> Signup and view all the answers

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