Disorders of Sexual Development

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

46, XY DSD

What is the normal default genital development?

Female

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

Hermaphroditism

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

7-12 weeks Signup and view all the answers

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

Complete androgen insensitivity syndrome Signup and view all the answers

What is the purpose of the karyotype test?

To diagnose disorders of sexual development Signup and view all the answers

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

46, XX DSD Signup and view all the answers

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

46, XY DSD Signup and view all the answers

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

Ovotesticular DSD Signup and view all the answers

What is the typical treatment for disorders of sexual development?

Genital reassignment surgery Signup and view all the answers

What is the main characteristic of Swyer Syndrome?

Absence of both ovarian and testicular tissue Signup and view all the answers

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

XY male with ambiguous genitalia and masculinization at puberty Signup and view all the answers

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

21-α Hydroxylase Deficiency Signup and view all the answers

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

Feminization of male fetuses Signup and view all the answers

What is the primary cause of Gestational Hyperandrogenism?

Maternal source of androgens in pregnancy Signup and view all the answers

What is the primary manifestation of Kallman Syndrome?

Hypogonadotropic hypogonadism plus anosmia Signup and view all the answers

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

17-hydroxyprogesterone levels Signup and view all the answers

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

Normal testosterone levels with decreased DHT levels Signup and view all the answers

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

Mutations in the androgen receptor gene Signup and view all the answers

What is the primary treatment for Swyer Syndrome?

Hormone replacement therapy with estrogen and progestogen Signup and view all the answers

What characterizes a chromosomal disorder known as Klinefelter syndrome?

XXY chromosomes Signup and view all the answers

What is hermaphroditism?

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

What is typically present in individuals with Swyer Syndrome?

Ambiguous genitalia Signup and view all the answers

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

Hypertension Signup and view all the answers

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

Amenorrhea (absence of menstruation) Signup and view all the answers

What is characteristic of Swyer Syndrome?

Absence of both ovarian and testicular tissue Signup and view all the answers

What is Androgen Insensitivity Syndrome (AIS) characterized by?

Complete or partial inability to respond to androgens Signup and view all the answers

What is NOT a type of chromosomal disorder?

Hypertension Signup and view all the answers

What does 'TORCH' stand for in TORCH infections?

Toxoplasmosis, Rubella, Cytomegalovirus, Herpes Signup and view all the answers

Which of the following is NOT a genetic disorder?

Celiac Disease Signup and view all the answers

Which of the following infections can cause congenital deafness?

Cytomegalovirus Signup and view all the answers

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

Hydrocephalus, kidney failure, and liver toxicity Signup and view all the answers

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

Chancre Signup and view all the answers

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

Watery diarrhea Signup and view all the answers

Which of the following is a symptom of rubella?

Maculopapular rash Signup and view all the answers

Which condition can cause a Blueberry Muffin Baby appearance?

Congenital rubella syndrome Signup and view all the answers

What is the most common cause of congenital deafness?