Disorders of puberty

Question 1

What is precocious puberty?

Answer 1

Development of secondary sexual characteristics before 8 years in girls and 9 years in boys

More common in obese children

Can be peripheral or central:

• Peripheral: gonadotrophin independent
• Central: due to early HP-gonad axis

Question 2

Discuss central precocious puberty

Answer 2

90% cases idiopathic

CNA lesions account for 10% cases

• Infection e.g. encephalitis
• Tumour
• Trauma
• Epilepsy, hydrocephalus

Question 3

Discuss peripheral precocious puberty

Answer 3

Oestrogen secreting tumour

McCune-Albright syndrome: precocious puberty, cystic bone lesions, cafe au lait spots

Iatrogenic (consumption of oestrogen)

• Hypothyroidism
• Congenital adrenal hyperplasia

Question 4

What is McCune Albright syndrome?

Answer 4

Genetic disorder causing

1. Precocious puberty
2. Skin lesions e.g hyper or hypopigmentation
3. Fibrous dysplasia (benign bone condition in which abnormal fibrous tissue develops in place of normal bone)

Question 5

Discuss diagnosis of central peripheral puberty

Answer 5

High LH, LH increases with GnRH stimulation

Pubertal levels of oestradiol and testosterone

Pelvic USS shows enlarged uterus and ovaries

Brain MRI: 10% will have a lesion

Question 6

Discuss diagnosis of peripheral precocious puberty

Answer 6

LH low or prepubertal, absent LH response to GnRH stimulation, pubertal or very high levels of oestradiol or testosterone, enlarged uterus and ovaries, brain MRI normal

Question 7

Investigations for precocious puberty

Answer 7

GnRH stimulation tests: LH raised

Bone scan: x-ray of wrist as bone age reflects oestrogen levels

Pelvic USS: exlude ovarian tumour

MRI if intracranial lesion suspected

Question 8

Management of precocious puberty

Answer 8

Idiopathic central PP: GnRH agonists which reduce LH and FSH production via negative feedback

Surgery: ovarian tumours or intracranial lesions

Question 9

Why does precocious puberty cause short stature?

Answer 9

Oestrogen causes premature fusion of epiphyseal plate in long bones

Question 10

What is delayed puberty?

Answer 10

Absence of secondary sexual characteristics by 16 years

Question 11

Causes of delayed puberty

Answer 11

• Gonadal dysgenesis: Turner’s
• Kallmanns syndrome
• Prolactin secreting adenoma
• Secondary delay: Sheehan syndrome
• Androgen insensitivity

Question 12

Causes of delayed puberty with short stature

Answer 12

Turner’s, Prader Willi, Noonan’s

Question 13

Causes of delayed puberty without short stature

Answer 13

Kallmann’s, Klinefelter’s

Question 14

What is hirsutism?

Answer 14

Excess hair growth in male distribution in women

Most often caused by PCOS or benign conditions but can be due to androgen secreting tumours, Cushing’s, acromegaly and some drugs

Hirsutism and additional signs of hyperandrogenism are worrying: acne, deep voice, enlarged clitoris, amenorrhoea

Question 15

What is the scoring system for hirsutism?

Answer 15

Ferriman-Gallwey scale

Question 16

Management of hirsutism

Answer 16

COCP: dianette

Cyproterone acetate: antiandrogen

Question 17

What is hypogonadism?

Answer 17

Term used to describe non functioning ovaries leading to

• Failed oestrogen production which leads to defective primary or secondary sexual development
• Failed oocyte development

Question 18

Causes of hypogonadism

Answer 18

Defect in ovaries = primary ovarian dysfunction

Defect in brain = primary hypothalamic pituitary dysfunction

Question 19

What is hypergonadotrophic hypogonadism?

Answer 19

High levels of GnRH or LH/FSH due to low levels of oestrogen (low oestrogen levels means there is nothing to tell the hypothalamus/ pituitary to stop FSH/LH production)

Occurs as a result of primary gonadal dysfunction

Question 20

Most common causes of hypogonadism

Answer 20

Gonadal dysgeneis: Turner’s

Kallman syndrome

Sheehan syndrome

Prolactin secreting adenoma

Chemo/ xRT, infection

Autoimmune

Question 21

What is Turner’s syndrome?

Answer 21

Complete absence of one X chromosome

Affects 1 in 2500 live births and accounts for >50% cases of gonadal dysgenesis

Patients present in late teens with absence of puberty and recognisable phenotype of low set ears, large number of moles, wide-spaced nipples, short webbed neck and short stature

Associated with coarctation or aorta, spina bifida and deafness

Question 22

What is Kallmann’s syndrome?

Answer 22

Hypogonadotrophic hypogonadism - caused by failure of GnRH to hypothalamus therefore LH and FSH not secreted

Causes anosmia and midline facial anomalies

Question 23

Clinical features of hypogonadism

Answer 23

Depends on timing of ovarian failure

If never functioned: delayed puberty and absence of secondary sexual characteristics

Failure later in life > early menopause

Typically presents as amenorrhoea or difficulty conceiving

Question 24

Management of hypogonadotrophin hypogonadism

Answer 24

Behaviour modification: hypothalamic dysfunction can be caused by stress, excessive exercise or weight loss

Medication: HRT to promote breast development and maintain bone health

Surgery: excise tumours, intrabdominal gonads removed in patients who have Y chromosomes because can cause malignancy

Development of secondary sexual characteristics may occur but fertility may not be possible

Question 25

What is galactorrhoea?

Answer 25

Abnormal lactation

Causes: prolactinoma, decreased DA secretion which removed inhibition of prolactin secretion e.g. due to tumours, head trauma, DA antagonists

Most cases associated with hyperprolactinaemia due to decreased DA inhibition or prolactin secreting tumours

40% cases no cause found

Question 26

Diagnosis of galactorrhoea

Answer 26

Detailed drug hx

Headaches + visual disturbance - tumour

Exclude recent pregnancy as discharge can occur 6 months after stopping feeding

Question 27

Investigations for galactorrhoea

Answer 27

Bloods: measure serum prolactin

Exclude hypothyroidism and CKD - both can cause galactorrhoea

Image pituitary if prolactin levels +++