Pubertal Disorders

Question 1

What is precocious puberty?

Answer 1

Onset of puberty occuring younger than 2SD below the average age

Question 2

What is the prevalence of precocious puberty?

Answer 2

1 in 5,000 to 1 in 10,000, fairly common

Question 3

How does the prevalence of precocious puberty differ in males and females?

Answer 3

5-10 times more common in girls than boys

Question 4

What age is considered to be precocious puberty in boys?

Answer 4

<9 years old

Question 5

What age is considered to be precocious puberty in females?

Answer 5

<8 years

Question 6

What is true of the majority of cases of precocious puberty?

Answer 6

It is of unknown cause

Question 7

What are the categories of causes of precocious puberty?

Answer 7

• Gonadotrophin dependant (central)
• Gondotrophin independant (neurological)

Question 8

How do gonadotrophin dependant mechanisms of precocious puberty work?

Answer 8

Through the pituitary axis

Question 9

What are the gonadotrophin dependant causes of precocious puberty?

Answer 9

• Tumours
• CNS trauma or injury
• Hamartomas of hypothalamus
• Gonadotrophin secreting tumours

Question 10

What tumours can can precocious puberty?

Answer 10

• Gliomas
• Astrocytomas
• Hamartomas
• Pineal tumours

Question 11

What are the causes of CNS trauma or injury leading to precocious puberty?

Answer 11

• Infection
• Radiation
• Surgery

Question 12

What congenital disorders can cause gonadotrophin dependant precocious puberty?

Answer 12

• Hydrocephalus
• Arachnoid cysts

Question 13

How common are gonadotrophin secreting tumours?

Answer 13

Very rare

Question 14

What is a more common mechanism for tumours causing precocious puberty than gonadotrophin secreting tumours?

Answer 14

Normally, have a tumour that causes hypothalamic machinery to secrete, rather than doing it itself

Question 15

What is gonadotrophin independant precocious puberty also known as?

Answer 15

Precocious pseudopuberty

Question 16

What happens in precocious psuedopuberty?

Answer 16

There is early stimulation of central maturation, and so you get the apperance of secondary secxual characteristics due to increased production of female or male hormones

Question 17

Does precocious pseudopuberty involve the HPG axis?

Answer 17

No, it occurs independantly of the HPG axis

Question 18

What happens to LH and FSH levels in precocious pseudopuberty?

Answer 18

They are suppressed

Question 19

What are the causes of precocious pseudopuberty?

Answer 19

• Congenital adrenal hyperplasia
• Tumours
• Testotoxicosis
• Exogeneous oestrogen or androgen exposure

Question 20

What tumours can cause precocious pseudopuberty?

Answer 20

• HCG-secreting tumorus in the liver
• Choricocarcinomas of the gonads, pineal gland, or mediastinum

Question 21

What can ovarian tumours cause?

Answer 21

Either masculisation or feminisation

Question 22

What may testicular Leydig-cell tumours cause?

Answer 22

Early virilisation in males

Question 23

What is testitoxicosis also known as?

Answer 23

Familial male precocious puberty

Question 24

What is the inheritance pattern of familial male precocious puberty?

Answer 24

Autosomal dominant

Question 25

How does familial male precocious puberty present?

Answer 25

* Rapid physical growth * Sexual maturation * Sexually aggressive behaviour in the first 2-3 years of life

Question 26

How can exogenous oestrogen or androgen exposure occur?

Answer 26

* Therapeutic * Accidental

Question 27

What is delayed puberty?

Answer 27

When initial changes of puberty are not present

Question 28

What is considered to be delayed puberty in females?

Answer 28

* No initial physical changes of puberty by age 13 * Primary amenorrhea at 15.5-16 years * When the interval between first signs of puberty and menarche is greater than 5 years

Question 29

What is considered to be delayed puberty in males?

Answer 29

* No signs on the Tanner scale by age 14 * When the interval between first signs of puberty and completion of genital growth is greater than 5 years

Question 30

What are the causes of delayed puberty?

Answer 30

* Gonadal failure (hypergonadotrophic hypogonadism) * Gonadal deficiency

Question 31

What are the causes of gonadal failure?

Answer 31

* Turners syndrome * Post-malignancy chemo/radiotherapy/surgery * Polyglandular autoimmune syndromes

Question 32

What is Turners syndrome?

Answer 32

A genetic condition that causes primary gonadal failure in development

Question 33

What is the karyotype for Turners syndrome?

Answer 33

(45, X) or (46,XX) with structural abnormalities of X chromosome

Question 34

What are the symptoms of Turners syndrome?

Answer 34

* Short stature * Gonadal dysgenesis * Skeletal abnormalities * Cardiac and kidney malformation * Dysmorfic face * *No mental defect* * *No impairment of cognitive function*

Question 35

What is the final height of someone with Turners syndrome?

Answer 35

144-146cm

Question 36

What therapy is used for Turners syndrome?

Answer 36

* Growth hormone * Sex hormone substitution

Question 37

What is the purpose of therapy in Turners syndrome?

Answer 37

*Can't correct gonadal dysgenesis,* but can correct physical characteristics

Question 38

What can cause a gonadal deficiency?

Answer 38

* Congenital hypogonadotrophic hypogonadism * Hypothalamic/pituitary lesions * Rare gene mutations inactivating FSH/LH or their receptors

Question 39

What can cause hypothalamic/pituitary lesions?

Answer 39

* Tumours * Post-radiotherapy