Puberty: delays, investigation and management

Question 1

Thelarche breast development

Answer 1

First visible change of puberty, induced by oestrogen, may be unilateral for several months

Question 2

Effects of oestrogen on breast

Answer 2

Ductal proliferation
Site specific adipose deposition
Enlargement of the areola and nipple

Question 3

Other hormones alongside oestrogen involved in breast development (thelarche)

Answer 3

Prolactin, glucocorticoids, insulin

Question 4

The prepubertal endometrium is a single layer of ______ cells

Answer 4

cuboidal

Question 5

The prepubertal uterus is ______ shaped

Answer 5

tubular

Question 6

The pubertal uterus is ___ shaped

Answer 6

pear

Question 7

Is the vagina acidic before puberty?

Answer 7

No, pH neutral

Question 8

Oestrogen increases size and thickness of labia m____ and m_____

Answer 8

majora and minora

Question 9

Oestrogen causes the hymen to ______ and clitoris to enlarge

Answer 9

thicken

Question 10

What stimulates the vestibular glands to begin secretion?

Answer 10

oestrogen

Question 11

Adrenal androgens and ovarian androgens causes

Answer 11

growth of pubic and axillary hair

Question 12

Adrenarche

Answer 12

Maturational process of the adrenal gland. Specialised subset of cells arises forming the androgen-producing zona retucularis

Question 13

Up to 80% of females and only 30% of males with precocious puberty is idiopathic. Therefore, especially for males, need to rule out…

Answer 13

Brain tumour

Question 14

How to differentiate between True precocious puberty and precocious pseudopuberty

Answer 14

Lh:FSH ratio > 1 in true precocious puberty

LH:FSH ratio < 1 in precocious pseudopuberty

Question 15

Treatment for “true” precocious puberty

Answer 15

GnRH super-agonist to suppress pulsatility of GnRH secretion

Question 16

Precocious Pseudo-Puberty is GnRH…

Answer 16

independent

Question 17

What are causes of “true” precocious puberty?

Answer 17

Idiopathic precocious puberty

CNS tumours

CNS disorders

Secondary central precocious puberty

Psychocial (ie adoption from abroad)

Question 18

Causes of Precocious Pseudo-Puberty

Answer 18

Increased androgen secretion
Gonadotropic secreting tumours
McCune-Albright syndrome
Ovarian cyst
Oestrogen secreting neoplasm
Iatrogenic or exogenous sex hormones

Question 19

Delayed puberty occurs in about _% of children

Answer 19

3%

Question 20

Indications for investigation of delayed puberty in girls

Answer 20

Lack of breast development by 13 y/o
More than 5 years between breast development and menarche
Lack of pubic hair by 14 y/o
Absent menarche by age 15-16

Question 21

Indications for investigation of delayed puberty in boys

Answer 21

Lack of testicular enlargement by age 14
Lack of pubic hair by 15 y/o
More than 5 years to complete genital enlargement

Question 22

Constitutional delay of growth and puberty (CDGP)

Answer 22

Most common cause, more common in boys, extreme of normal physiologic variation

Delay in bone maturation, delay in adrenarche

Question 23

Lab investigations for delayed puberty

Answer 23

Complete red blood count
U&E, LFT, coeliac ab
LH,FSH
Testosterone/Oestradiol
Thyroid function, prolactin

Karyotyping, CGH array in all girls with short stature (screening for Turner’s syndrome)

Question 24

Low concentrations of LH, FH, testosterone/oestrogen can be seen during…

Answer 24

quiescent phase and early puberty

Question 25

True or false: There is delayed bone age in GH deficiency

Answer 25

True

Question 26

There is _____ bone age in precocious pubery

Answer 26

advanced

Question 27

Kallman Syndrome

Answer 27

Hypogonadotrophic hypogonadism, anosmia in 75%, failure of migration of GNRH neurons

Question 28

What are other signs of Turner’s Syndrome?

Answer 28

Recurrent otitis media, short stature

Question 29

Klinefelter Syndrome

Answer 29

Affects approx. 1 in 1000 males,
reduced secondary sexual hair
Primary hypogonadism
Azoospermia, Gynaecomastia, Osteoporosis, tall stature, reduced IQ in 40%
20-fold increase risk of breast cancer