Disorders of puberty

Question 1

What is puberty

Answer 1

process of acquisition of secondary sexual characteristics and attainment of reproductive function

Question 2

What are some secondary sexual characteristics

Answer 2

development of genitalia
pubic and axillary hair in boys and girls
development of breasts
increase in testicular volume

Question 3

When does normal puberty occur

Answer 3

between the ages of 8 and 13 in girls
9-14 in boys
Usually lasts 3-4 years

Question 4

What is the first step in initiation of puberty

Answer 4

activation of hypothalamic GnRH pulse generator and the pulsatile secretion of GnRH

Question 5

What does the release of GnRH result in

Answer 5

an increase in plasma concentrations of LH, FSH and sex steroids (testosterone or estradiol)

Question 6

What is the initial change in gonadotrophin secretion during the early stages of puberty

Answer 6

nocturnal increase in serum LH during sleep

Question 7

What happens to LH levels later in puberty

Answer 7

Daytime LH levels also increase, gradually changing to the adult pattern

Question 8

What is the function of leptin

Answer 8

it is a hormone produced largely in adipocytes and may act as a signal of the availability of the metabolic reserve necessary for pubertal development

Question 9

What are the 5 Tanner stages in boys

Answer 9

1: prepubertal
2: scrotum and testes enlarge and scrotum skin reddens and changes in texture
3. Penis enlarges and the testes grow further
4: size of penis increases with a growth in breadth and development of the glans
5: adult genitalia

Question 10

What are the 5 Tanner stages in girls

Answer 10

1: prepubertal
2: breast bud stage with elevation of breast and papilla, enlargement of areola
3. further enlargement of the breast and areola, no separation of their contour
4: Areola and papilla form a secondary mound above the level of the breast
5: Mature stage with projection of papilla only related to recession of the areola

Question 11

What is thelarche

Answer 11

The first sign of puberty - the onset of breast development

Question 12

What is pubarche

Answer 12

The development of pubic hair

Question 13

When does menarche occur

Answer 13

2-3 years after the onset of puberty

Question 14

When does the peak growth velocity (growth spurt) occur

Answer 14

Within the first year after the onset of puberty in girls

Usually 2 years after the onset of puberty

Question 15

What is the first sign of puberty in boys

Answer 15

an increase in testicular volume

Question 16

At what Tanner stage does spermatogenesis begin

Answer 16

stage 3

Question 17

What is delayed puberty

Answer 17

the absence or incomplete development of secondary sexual characteristics by an age at which 95% of children of that sex and culture have initiated sexual maturation

Question 18

What is constitutional delay of growth and puberty characterised by

Answer 18

a delayed onset of puberty, pubertal growth spurt and skeletal maturation

Question 19

How is the predicted height of a child calculated

Answer 19

an appropriate range for the parental heights

Question 20

What is highly suggestive of congenital GnRH deficiency

Answer 20

Persistent hypogonadism beyond age 18

Question 21

What is hypogonadootrophic hypogonadism due to

Answer 21

an impaired secretion of hypothalamic GnRH and or impaired FSH and LH level

Question 22

What is congenital hypogonadotrophic hypogonadism sometimes associated with

Answer 22

Anosmia: in Kallmann’s syndrome
Mental retardation and obesity: in Prader-Willi syndrome
Congenital adrenal hypoplasia

Question 23

What is Hypergonadotrophic hypogonadism associated with

Answer 23

high FSH and LH levels due to a lack of negative feedback of the sex steroids

Question 24

What should physical examination include

Answer 24

Assessment of secondary sex characteristics and staging according to the Tanner criteria
Measurement and plotting of height on a growth chart
Measurement of weight and calculation of BMI
General examination to look for any features of an underlying cause - e.g. visual field defects due to a pituitary tumour

Question 25

what investigations should be included for patients with delayed puberty

Answer 25

``` FBC U&E LFT erythrocyte sedimentation rate serum LH and FSH oestradiol (girls) Testosterone (boys) prolactin free T4 and TSH ```

Question 26

How is bone age determined

Answer 26

by the comparison of a radiograph of the patients bones in the left hand and wrist with the bones in a standard atlas, This allows an assessment of skeletal maturation and the potential for future skeletal growth

Question 27

What is the treatment for girls

Answer 27

2ug ethinylestradiol orally daily

Question 28

What is the treatment for boys

Answer 28

50mg testosterone enanthate or cypionate IM monthly

Question 29

What are side effects of testosterone therapy

Answer 29

acne and rarely, priapism

Question 30

What is precocious puberty

Answer 30

the onset of secondary sexual characteristics before he age of 8 in girls or 9 in boys

Question 31

What are some causes of GnRH dependent precocious puberty

Answer 31

``` Hydrocephalus hamartomas umours trauma radiotherapy inflammatory disease idiopathic ```

Question 32

What are some causes of GnRH independent precocious puberty

Answer 32

Increased sex steroids from the ovaries | Increased testosterone from testes

Question 33

What causes GnRH dependent precocious puberty

Answer 33

earlier activation of the hypothalamic pituitary-gonadal axis

Question 34

What is GnRH independent precocious puberty

Answer 34

Autonomous endogenous secretion of sex steroids from the gonads or adrenal glands or excess exogenous sex steroids

Question 35

What is testotoxicosis

Answer 35

an autosomal dominant disorder caused by an activating mutation of the LH receptor gene, resulting in premature Leydig cell maturation and increased testosterone secretion in boys

Question 36

What is McCune-Albright syndrome

Answer 36

a arar disorder characterised by precocious puberty, cafe au last skin pigmentation and fibrous dysplasia of bone

Question 37

What are variants of normal puberty

Answer 37

premature thelache and premature adrenarche

Question 38

What are important parts of the medical history

Answer 38

Details of pubertal development: when initial changed were first noticed Previous history of CNS disease, radiotherapy, trauma or presence of any near symptoms such as headaches or seizures History of exposure to exogenous androgens or oestrogens presence of abdominal pain ( ovarian disease )

Question 39

What investigations are required in a patient with precocious puberty

Answer 39

bone age sex steroid LH and DSH levels Thyroid function tests GnRH dependent precocious puberty: brain MRI for CNS cause GnRH independent: measure testosterone, oestradiol, dehydroepiandrosterone suplhate (elevated in adrenal tumours) Pelvic US - ovarian cyst or tumour

Question 40

What is the treatment of central precocious puberty if a cause has been found

Answer 40

treat it appropriately | Decision to treat depends on the predicted final adult height and physchosocial effects of the precocity

Question 41

If deciding to treat, what should be given

Answer 41

GnRH analogue therapy it induces the down regulation of pituitary GnRH receptors and results in the suppression of pulsatile gonadotrophin release It slows accelerated puberty and improves final height

Question 42

What should be monitored during therapy

Answer 42

bone density

Question 43

What should children with congenital adrenal hyperplasia be treated with

Answer 43

glucocorticoids

Question 44

What are patients with McCune-Albright syndrome treated with

Answer 44

drugs that inhibit gonadal steroid synthesis or action rather than surgery

Question 45

What might delayed puberty be caused by

Answer 45

constitutional delay of growth and puberty, hypogonadotrophic hypogonadism or hypergonadotrophic hypogonadism