Podcast
Questions and Answers
What is the characteristic physical appearance of individuals with untreated isolated gonadotrophin deficiency?
What is the characteristic physical appearance of individuals with untreated isolated gonadotrophin deficiency?
- Obesity with normal body proportions
- Tall stature with disproportionately long arms and legs (correct)
- Short stature with normal arm and leg proportions
- Muscular build with short limbs
What is a common observation in all forms of hypogonadotrophic hypogonadism?
What is a common observation in all forms of hypogonadotrophic hypogonadism?
- Gynaecomastia only in boys
- Cryptorchidism and gynaecomastia (correct)
- Cryptorchidism only in boys
- Neither cryptorchidism nor gynaecomastia
What is the most common cause of delayed puberty in boys?
What is the most common cause of delayed puberty in boys?
- Hypothalamic/pituitary abnormality
- Klinefelter syndrome
- Turner syndrome
- Constitutional delay (correct)
What is the purpose of performing a karyotype in adolescents with hypergonadotrophic hypogonadism?
What is the purpose of performing a karyotype in adolescents with hypergonadotrophic hypogonadism?
What is the potential risk of medically inducing puberty in adolescents?
What is the potential risk of medically inducing puberty in adolescents?
What is the typical association of Turner syndrome?
What is the typical association of Turner syndrome?
What is the likely cause of isolated gonadotrophin deficiency?
What is the likely cause of isolated gonadotrophin deficiency?
Which of the following is NOT a cause of hypergonadotrophic hypogonadism?
Which of the following is NOT a cause of hypergonadotrophic hypogonadism?
What is the characteristic of Turner syndrome?
What is the characteristic of Turner syndrome?
What is the result of anosmia or hyposmia in Kallmann syndrome?
What is the result of anosmia or hyposmia in Kallmann syndrome?
Which of the following is a cause of hypogonadotrophic hypogonadism?
Which of the following is a cause of hypogonadotrophic hypogonadism?
What is the typical presentation of delayed puberty in constitutional delay?
What is the typical presentation of delayed puberty in constitutional delay?
What is the recommended treatment for children with congenital hypothyroidism to prevent irreversible brain damage?
What is the recommended treatment for children with congenital hypothyroidism to prevent irreversible brain damage?
What is the incidence of congenital hypothyroidism compared to phenylketonuria?
What is the incidence of congenital hypothyroidism compared to phenylketonuria?
What genetic mutation is associated with Pendred syndrome?
What genetic mutation is associated with Pendred syndrome?
Which enzyme deficiency commonly causes congenital hypothyroidism?
Which enzyme deficiency commonly causes congenital hypothyroidism?
What does Pendred syndrome consist of, in addition to nerve deafness?
What does Pendred syndrome consist of, in addition to nerve deafness?
How is the diagnosis of congenital hypothyroidism commonly made in newborns?
How is the diagnosis of congenital hypothyroidism commonly made in newborns?
