Adolescent gynae

Question 1

Primary amenorrhoea causes

Answer 1

1. POI - high FSH low E2 (hypergonadotrophic hypogonadism)
   a.idiopathic - accelerated depletion of primordial germ cells
   b. Gonadal dysgenesis 50% (swyers 46xy failure of SRY, turners XO, fragile X premutation in females)
   c. Destruction - chemo/radiation/tumour/ infection (mumps), AI (5%), surgery/ torsion
2. Central
   a. Hypogonadotrophic hypogonadism - hypothalamic amenorrhoea (20%) - weight (50kg), exercise, stress, chronic disease - inhibition GnRH
   b. Pituitary disease (5%)
   Prolactinoma
   Kallmans (male and female) abn development of pituitary (assoc anosmia)
3. Hyperandrogenism
   a. CAH
   b. AIS
   c. PCOS
   d. Hypothyroidism
   e. Adrenal tumour - Cushings (cortisol, DHEAS)
4. Drugs - hormonal
5. Outflow abnormalities/ congenital abn
   a. Vaginal/ uterine agenesis (15%) e.g. MRKH
   b. Transverse septum/imperforate hymen (5%)
   c synechiae (infection)
6. Pregnancy

Question 2

Primary amenorrhoea investigations

Answer 2

Uss - if uterus/ tubes/ ovarys present
(Turners - streak ovaries or other gonadal dysgenesis, AIS, MRKH)

Karyotype (46XY AIS or swyers, 45 XO Inc mosaicism turners, or 46XX and looks for fragile X premutation)

Hormonal studies - FSH (high if peripheral, low if central) , E2 (low) - if both normal or E2 normal/ low consider androgen screen (testosterone for PCOS, CAH, adrenal tumour/ cushings, AIS)

GnRH stimulation - if rise in LH then hypothalamic, if not then pituitary

AI testing TFTs - adrenal/ thyroid

Question 3

Turners features

Question 4

Turners associations

Question 5

Turners management

Question 6

Puberty stages

Question 7

Precocious puberty definition

Question 8

Precocious puberty causes

Question 9

History precocious puberty

Question 10

Investigations precocious puberty

Answer 10

Left wrist X-ray to check growth plates for early fusion
LH/ FSH and GnRH stim
E2/ testosterone
tSH
MRI brain - mass
Pelvic uss - ovarian mass ? Adrenal
17 oh progesterone - CAH
DHEAS - adrenal
Electrolytes - adrenal

Question 11

History primary amenorrhoea

Answer 11

Other signs of pubertal development Inc exam
Family history - puberty, genetic issues
Chance of pregnancy
Infections/ head trauma
Medications
Other development
Psych impact
Weight/ eating/ stress
Other conditions - chronic illness, endocrine
Signs of androgen excess

Question 12

Management precocious puberty

Answer 12

Psych support
Safety - Inc risks sexually active
Paeds endocrine
Halt progress to improve long term height - zoladex - cont desensitises pituitary gonadotropin release, pulsaltile triggers FSH/LH (monitor 6 monthly - symptoms, bone age, bone density) - stop 10yrs - period 1-2 yrs
Conservative if functional cyst
Surgery etc if tumour
Remove exposure hormones
Hydrocortisone- CAH