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 (B)</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 (A)</p> Signup and view all the answers

What is the purpose of the karyotype test?

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

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

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

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

<p>46, XY DSD (C)</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 (D)</p> Signup and view all the answers

What is the typical treatment for disorders of sexual development?

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

What is the main characteristic of Swyer Syndrome?

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

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

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

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

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

What is the primary cause of Gestational Hyperandrogenism?

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

What is the primary manifestation of Kallman Syndrome?

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

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

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

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

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

What is the primary treatment for Swyer Syndrome?

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

What characterizes a chromosomal disorder known as Klinefelter syndrome?

<p>XXY chromosomes (D)</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 (A)</p> Signup and view all the answers

What is typically present in individuals with Swyer Syndrome?

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

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

<p>Hypertension (A)</p> Signup and view all the answers

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

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

What is characteristic of Swyer Syndrome?

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

What is Androgen Insensitivity Syndrome (AIS) characterized by?

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

What is NOT a type of chromosomal disorder?

<p>Hypertension (A)</p> Signup and view all the answers

What does 'TORCH' stand for in TORCH infections?

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

Which of the following is NOT a genetic disorder?

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

Which of the following infections can cause congenital deafness?

<p>Cytomegalovirus (C)</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 (B)</p> Signup and view all the answers

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

<p>Chancre (C)</p> Signup and view all the answers

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

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

Which of the following is a symptom of rubella?

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

Which condition can cause a Blueberry Muffin Baby appearance?

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

What is the most common cause of congenital deafness?

<p>Cytomegalovirus (C)</p> Signup and view all the answers

What is a common symptom of Toxoplasmosis?

<p>Hydrocephalus (C)</p> Signup and view all the answers

Which of the following infections can cause congenital anomalies?

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

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

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

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