Pubertal Disorders Flashcards Preview

ESA 4 - Reproductive System > Pubertal Disorders > Flashcards

Flashcards in Pubertal Disorders Deck (39):
1

What is precocious puberty? 

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

2

What is the prevalence of precocious puberty? 

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

3

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

5-10 times more common in girls than boys

4

What age is considered to be precocious puberty in boys?

<9 years old

5

What age is considered to be precocious puberty in females? 

<8 years

6

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

It is of unknown cause

7

What are the categories of causes of precocious puberty? 

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

 

8

How do gonadotrophin dependant mechanisms of precocious puberty work? 

Through the pituitary axis

9

What are the gonadotrophin dependant causes of precocious puberty? 

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

 

10

What tumours can can precocious puberty? 

  • Gliomas
  • Astrocytomas
  • Hamartomas
  • Pineal tumours

 

11

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

  • Infection
  • Radiation 
  • Surgery

12

What congenital disorders can cause gonadotrophin dependant precocious puberty? 

  • Hydrocephalus
  • Arachnoid cysts

 

13

How common are gonadotrophin secreting tumours? 

Very rare

14

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

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

15

What is gonadotrophin independant precocious puberty also known as? 

Precocious pseudopuberty 

16

What happens in precocious psuedopuberty? 

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

17

Does precocious pseudopuberty involve the HPG axis? 

No, it occurs independantly of the HPG axis

18

What happens to LH and FSH levels in precocious pseudopuberty? 

They are suppressed

19

What are the causes of precocious pseudopuberty? 

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

 

20

What tumours can cause precocious pseudopuberty? 

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

21

What can ovarian tumours cause? 

Either masculisation or feminisation 

22

What may testicular Leydig-cell tumours cause? 

Early virilisation in males

23

What is testitoxicosis also known as? 

Familial male precocious puberty

24

What is the inheritance pattern of familial male precocious puberty? 

Autosomal dominant

25

How does familial male precocious puberty present? 

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

 

26

How can exogenous oestrogen or androgen exposure occur? 

  • Therapeutic
  • Accidental 

 

27

What is delayed puberty? 

When initial changes of puberty are not present

28

What is considered to be delayed puberty in females? 

  • 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

 

29

What is considered to be delayed puberty in males? 

  • 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

30

What are the causes of delayed puberty? 

  • Gonadal failure (hypergonadotrophic hypogonadism) 
  • Gonadal deficiency 

31

What are the causes of gonadal failure? 

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

 

32

What is Turners syndrome? 

A genetic condition that causes primary gonadal failure in development

33

What is the karyotype for Turners syndrome? 

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

34

What are the symptoms of Turners syndrome? 

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

35

What is the final height of someone with Turners syndrome? 

144-146cm

36

What therapy is used for Turners syndrome? 

  • Growth hormone
  • Sex hormone substitution

 

37

What is the purpose of therapy in Turners syndrome? 

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

38

What can cause a gonadal deficiency? 

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

39

What can cause hypothalamic/pituitary lesions? 

  • Tumours
  • Post-radiotherapy