Delayed Puberty

Question 1

Definition of delayed puberty

Answer 1

Girls: lack of breast development by age 13

Boys: lack of physical manifestations of sexual maturation by age 14

Question 2

Definition of primary amennorhoea in females?

Answer 2

Absence of menses by age 25

Question 3

What are the three broad classifications of causes of delayed puberty?

Answer 3

• Constitutional delay in growth and puberty
• Primary failure i.e. hypergonadotrophic hypogonadism
• Central failure i.e. hypogonadotropic hypogonadism

Question 4

Features of constitutional delay in growth and puberty

Answer 4

Most common, idiopathic, physiological

Question 5

Features of Primary failure i.e. hypergonadotrophic hypogonadism

Answer 5

Gonadal failure, increased FSH and LH

Question 6

Features of Central failure i.e. hypogonadotrophic hypogonadism

Answer 6

Hypothalamic-pituitary failure, decreased FSH and LH

Question 7

What are the causes of primary failure of gonads?

Answer 7

Genetic
Autoimmune
Enzyme defects
Androgen insensitivity disorder
Chemo-radiotherapy
Bilateral testicular damage (males)
Polycystic Ovarian syndrome (females)
Congenital reproductive tract abnormalities
Thalassaemia

Question 8

What genetic diseases/syndromes can lead to hypergonadotrophic hypogonadism?

Answer 8

Turners (X)

Klinefelters (XXY)

Prader-Willi syndrome (cryptorchidism, benign premature adrenarche)

Noonan’s syndrome (cryptorchidism = common)

Question 9

What can cause bilateral testicular damage?

Answer 9

Cryptorchidism

Atresia

Torsion

Question 10

Why can thalassaemia cause primary gonadal failuire?

Answer 10

Due to occlusion as a result of ischaemic damage

Question 11

What are the causes of secondary gonadal failure?

Answer 11

Intact HPG-axis causes:

• environmental (emotional deprivation, over-exercise)
• eating disorders (anorexia nervosa, bulimia)
• chronic disease
• endocrine (hypothyroidism)

Impaired HPG-axis acuses:

• tumours (cranial, optic gliomas)
• congenital panhypopituitarism
• irradiation
• trauma
• Prader-Willi syndrome
• Kallman syndrome