Hypogonadotropic Hypogonadism and its Effects

Play an AI-generated podcast conversation about this lesson

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?

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?

Hypothalamic/pituitary abnormality

Klinefelter syndrome

Turner syndrome

Constitutional delay (correct)

What is the purpose of performing a karyotype in adolescents with hypergonadotrophic hypogonadism?

To exclude Turner and Klinefelter syndromes Signup and view all the answers

What is the potential risk of medically inducing puberty in adolescents?

Premature fusion of the epiphyses Signup and view all the answers

What is the typical association of Turner syndrome?

With hypergonadotrophic hypogonadism in girls Signup and view all the answers

What is the likely cause of isolated gonadotrophin deficiency?

Genetic abnormality affecting the synthesis of GnRH or gonadotrophins Signup and view all the answers

Which of the following is NOT a cause of hypergonadotrophic hypogonadism?

Chronic systemic illness Signup and view all the answers

What is the characteristic of Turner syndrome?

45,X, female phenotype Signup and view all the answers

What is the result of anosmia or hyposmia in Kallmann syndrome?

Agenesis or hypoplasia of the olfactory bulbs Signup and view all the answers

Which of the following is a cause of hypogonadotrophic hypogonadism?

Functional gonadotrophin deficiency Signup and view all the answers

What is the typical presentation of delayed puberty in constitutional delay?

Poor linear growth, with ‘crossing of the height centiles’ Signup and view all the answers

What is the recommended treatment for children with congenital hypothyroidism to prevent irreversible brain damage?

Early treatment with levothyroxine within 2 weeks of birth Signup and view all the answers

What is the incidence of congenital hypothyroidism compared to phenylketonuria?

Six times more common Signup and view all the answers

What genetic mutation is associated with Pendred syndrome?

Mutation in the SLC26A4 gene Signup and view all the answers

Which enzyme deficiency commonly causes congenital hypothyroidism?

Peroxidase Signup and view all the answers

What does Pendred syndrome consist of, in addition to nerve deafness?

Dyshormonogenetic goitre Signup and view all the answers

How is the diagnosis of congenital hypothyroidism commonly made in newborns?

Through a Guthrie test measuring TSH levels in heel-prick blood samples Signup and view all the answers