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ESA 4 - Reproductive System > Pubertal Disorders > Flashcards

Pubertal Disorders Flashcards

1
Q

What is precocious puberty?

A

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

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2
Q

What is the prevalence of precocious puberty?

A

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

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3
Q

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

A

5-10 times more common in girls than boys

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4
Q

What age is considered to be precocious puberty in boys?

A

<9 years old

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5
Q

What age is considered to be precocious puberty in females?

A

<8 years

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6
Q

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

A

It is of unknown cause

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7
Q

What are the categories of causes of precocious puberty?

A
  • Gonadotrophin dependant (central)
  • Gondotrophin independant (neurological)
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8
Q

How do gonadotrophin dependant mechanisms of precocious puberty work?

A

Through the pituitary axis

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9
Q

What are the gonadotrophin dependant causes of precocious puberty?

A
  • Tumours
  • CNS trauma or injury
  • Hamartomas of hypothalamus
  • Gonadotrophin secreting tumours
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10
Q

What tumours can can precocious puberty?

A
  • Gliomas
  • Astrocytomas
  • Hamartomas
  • Pineal tumours
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11
Q

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

A
  • Infection
  • Radiation
  • Surgery
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12
Q

What congenital disorders can cause gonadotrophin dependant precocious puberty?

A
  • Hydrocephalus
  • Arachnoid cysts
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13
Q

How common are gonadotrophin secreting tumours?

A

Very rare

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14
Q

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

A

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

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15
Q

What is gonadotrophin independant precocious puberty also known as?

A

Precocious pseudopuberty

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16
Q

What happens in precocious psuedopuberty?

A

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
Q

Does precocious pseudopuberty involve the HPG axis?

A

No, it occurs independantly of the HPG axis

18
Q

What happens to LH and FSH levels in precocious pseudopuberty?

A

They are suppressed

19
Q

What are the causes of precocious pseudopuberty?

A
  • Congenital adrenal hyperplasia
  • Tumours
  • Testotoxicosis
  • Exogeneous oestrogen or androgen exposure
20
Q

What tumours can cause precocious pseudopuberty?

A
  • HCG-secreting tumorus in the liver
  • Choricocarcinomas of the gonads, pineal gland, or mediastinum
21
Q

What can ovarian tumours cause?

A

Either masculisation or feminisation

22
Q

What may testicular Leydig-cell tumours cause?

A

Early virilisation in males

23
Q

What is testitoxicosis also known as?

A

Familial male precocious puberty

24
Q

What is the inheritance pattern of familial male precocious puberty?

A

Autosomal dominant

25
Q

How does familial male precocious puberty present?

A
  • Rapid physical growth
  • Sexual maturation
  • Sexually aggressive behaviour in the first 2-3 years of life
26
Q

How can exogenous oestrogen or androgen exposure occur?

A
  • Therapeutic
  • Accidental
27
Q

What is delayed puberty?

A

When initial changes of puberty are not present

28
Q

What is considered to be delayed puberty in females?

A
  • 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
Q

What is considered to be delayed puberty in males?

A
  • 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
Q

What are the causes of delayed puberty?

A
  • Gonadal failure (hypergonadotrophic hypogonadism)
  • Gonadal deficiency
31
Q

What are the causes of gonadal failure?

A
  • Turners syndrome
  • Post-malignancy chemo/radiotherapy/surgery
  • Polyglandular autoimmune syndromes
32
Q

What is Turners syndrome?

A

A genetic condition that causes primary gonadal failure in development

33
Q

What is the karyotype for Turners syndrome?

A

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

34
Q

What are the symptoms of Turners syndrome?

A
  • Short stature
  • Gonadal dysgenesis
  • Skeletal abnormalities
  • Cardiac and kidney malformation
  • Dysmorfic face
  • No mental defect
  • No impairment of cognitive function
35
Q

What is the final height of someone with Turners syndrome?

A

144-146cm

36
Q

What therapy is used for Turners syndrome?

A
  • Growth hormone
  • Sex hormone substitution
37
Q

What is the purpose of therapy in Turners syndrome?

A

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

38
Q

What can cause a gonadal deficiency?

A
  • Congenital hypogonadotrophic hypogonadism
  • Hypothalamic/pituitary lesions
  • Rare gene mutations inactivating FSH/LH or their receptors
39
Q

What can cause hypothalamic/pituitary lesions?

A
  • Tumours
  • Post-radiotherapy

ESA 4 - Reproductive System (31 decks)

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