Puberty

Question 1

What is adrenarche and when does it occur?

Answer 1

1. Activation of zona reticularis - increased adrenal androgen production.
2. Before puberty (6-8 years)

Question 2

What is thelarche and when does it occur?

Answer 2

1. Breast development

2. 2-3 years before menarche

Question 3

What is gonadarche and when does it occur?

Answer 3

1. Increasing testicular volume

2. 12 years of age

Question 4

What is pubarche and when does it occur?

Answer 4

1. Appearance of pubic hair.

2. 6 months after thelarche (girls), 1-2 years after initial testicular enlargement (boys).

Question 5

What is menarche and when does it occur?

Answer 5

1. Onset of menstruation.

2. Just under 13 years

Question 6

What is spermarche and when does it occur?

Answer 6

1. Onset of sperm production.

2. 13-14 years.

Question 7

What hormonal change causes enlargement of testes?

Answer 7

Pulses of pituitary gonadotrophins

Question 8

What hormonal changes causes breast enlargement in girls and penis enlargement in boys?

Answer 8

Gonadal sex steroid production

Question 9

What hormonal change causes pubic hair to form?

Answer 9

Adrenal androgen production

Question 10

What are the Tanner stages in girls?

Answer 10

1. Pre-pubertal
2. Areola enlarges, breast buds, sparse pigmented hair along labia.
3. Breast grows beyond areola, nipple elevates, hair becomes darker/coarser.
4. Areola and papilla project above breast, secondary mound, adult type hair in small area.
5. Adult breast contour, projection of papilla only, adult hair type and distribution.

Question 11

What are the Tanner stages in boys?

Answer 11

1. Pre-pubertal, testicular volume <2.5ml
2. Sparse hair around penis base, testes and scrotum enlarge, scrotal skin thins and reddens.
3. Darker/coarse/curly hair spreads laterally, further testes and penis growth.
4. Adult type hair in small area, further penis growth, scrotal skin darkens.
5. Adult hair type and distribution, and genitalia.

Question 12

What is the definition of puberty?

Answer 12

Period of sexual maturation during which a child’s body undergoes physical changes to become an adult body with functional reproductive organs.

Question 13

What is the normal age for puberty in boys and girls?

Answer 13

9-14 for boys, 8-13 for girls.

Question 14

Which genders are precocious and delayed puberty more common in?

Answer 14

1. Precocious - girls

2. Delayed - boys

Question 15

What is the definition of delayed puberty?

Answer 15

Lack of any breast development by 13 in girls and testicular volume <4ml by 14 years in boys.

Question 16

What are the central causes of delayed puberty?

Answer 16

Pituitary/hypothalamus:

1. Constitutional delay
2. Chronic disease
3. Malnutrition/anorexia nervosa
4. Pituitary tumours/radiotherapy
5. Congenital GnRH deficiency

Question 17

What are the peripheral causes of delayed puberty?

Answer 17

Gonads:

1. Turner’s syndrome
2. Klinefelter’s syndrome
3. Bilateral testicular damage (torsion/mumps)

Question 18

What is this a presentation of?
Boy, tall stature, mild learning difficulties, lack of body and facial hair, long arms and legs, gynaecomastia, female body fat distribution, small firm tester, subfertile.

Answer 18

Klinefelter’s syndrome

Question 19

What is the genotype of Klinefelter’s syndrome and what are the hormone levels (LH/FSH/testosterone)?

Answer 19

1. XXY

2. High LH/FSH, low testosterone

Question 20

What is this a presentation of?

Boy, delayed puberty, anosmia, hypogonadism.

Answer 20

Kallmann’s syndrome

Question 21

What is the pathophysiology of Kallmann’s syndrome, what is the inheritance pattern, and what are the hormone levels (LH/FSH/sex hormones)?

Answer 21

1. Failure of GnRH neurones to migrate to the hypothalamus.
2. X-linked recessive
3. Low FSH/LH, low sex hormones

Question 22

How is delayed puberty investigated?

Answer 22

1. Formal puberty staging, growth, body composition
2. Dysmorphic features - karyotype
3. Bone age radiographs
4. Pelvic USS, brain MRI
5. LH, FSH, E2, testosterone
6. TFTs, inflammatory markers

Question 23

What are the differences in hormone levels between primary and secondary hypoG-hypoG?

Answer 23

1. Primary hypoG-hypoG - low sex hormones, normal/high FSH and LH
2. Secondary hypoG-hypoG - every thing is low

Question 24

What is the management for delayed puberty?

Answer 24

1. All with constitutional delay enter puberty spontaneously.
2. If delay is causing distress, can be induced by testosterone or oestrogen.

Question 25

What is precocious puberty?

Answer 25

Signs of puberty before 8 in girls and 9 in boys.

Question 26

What are the central causes of precocious puberty?

Answer 26

Pituitary/hypothalamus: 1. Familial early puberty 2. Hypothyroidism 3. Obesity 4. Idiopathic 5. Brain tumour

Question 27

What are the peripheral causes of precocious puberty?

Answer 27

Gonads/adrenal: 1. Ovarian, testicular, or adrenal tumours 2. Congenital adrenal hyperplasia 3. Exposure to exogenous sex steroid hormones

Question 28

What are the clinical features of central precocious puberty?

Answer 28

Concordant and progresses normally

Question 29

What are the clinical features of peripheral precocious puberty?

Answer 29

1. Girls - clitoromegaly and hirsutism | 2. Boys - increased penis length without testicular enlargement

Question 30

How is precocious puberty investigated?

Answer 30

1. Bone age radiography 2. Boys - high early morning testosterone 3. Girls - high oestrogen 4. 17-OH progesterone on short synacthen for CAH 5. GnRH stimulation test - LH and FSH rises in central, not in peripheral 6. Left and right spermatic vein sampling for Leydig tumours 7. Adrenal and pelvic USS 8. MRI brain if suspecting tumour

Question 31

What is the management for precocious puberty?

Answer 31

1. Some choose to progress through puberty 2. Can halt puberty using GnRH agonists (SC/nasal) 3. Treat peripheral causes by treating the cause, GnRH won't work.