Information Sheet for Candidates

Your next patient is an 18 year old girl, Jane, with primary

amenorrhoea. All secondary sexual signs have been
presented for 3 years.
She has never spoken to anybody about it but is now in a
relationship and worries about pregnancy.

Your tasks are to:

 Take a focused history
 Perform an examination
 Order appropriate investigations
 Discuss your findings with and give advice to the
patient
HOPC: as above. She grew in hight quite a bit over the last 3 years and she is now fully
developed with normal breasts and pubic hair (secondary sexual characteristics).
However, she has not had a period which did not worry her. No history of abdominal or
pelvic pains.
Jane has not been sexually active but has had a boy friend for 15 months and they are
considering a closer relationship. No other symptoms, especially no anorexia or weight
loss, no extreme exercises.
PHx: unremarkable
FHx: her mother had menarche at the age of 17 years and one younger sister at age 14
has not developed breasts yet.
SHx: Jane started her university course as physiotherapist this year, lives at home, non
smoker, non drinker, NKA, no medication.
Examination: well looking 18 year old with normal weight and hight. Normal vital
signs. Genital examination reveals a normal looking vulva, the hymen is intact and
perforate.
Diagnosis: Primary Amenorrhoea !
Primary amenorrhoea or delayed puberty affects about 5% of women and is defined as
the failure of the menses to start by 16 years of age. In Jane’s situation it is most likely a
physiological or constitutional (familial) delay (as in her mother) seeing that all other
physical findings seem to be normal. Other causes:
 Imperforate hymen, transverse vaginal septum and other genital malformations
(Mullerian duct agenesis), when menstruation can occur but cannot excape from
the genital tract.
 Pituitary tumours (hypopituitarism)
 Hypothalamic disorder
 Hyperprolactaemia
 Turner’s syndrome
 Gonadal dysgenesis (secondary sexual characteristics will not have developed!)
 Absent uterus
 Eating disorders
 Excessive exercise
Investigations:
FSH, LH, prolactin, oestradiol level
U/S to confirm normal uterus etc.
Karyotype, only if above abnormal

Management:
 Reassurance and review in 12 months time if all the tests are normal.
 Can try estrogen-progesterone – withdrawal bleeding for primary ovarian failure
 If constitutional delay, can treat with hormone challenge if >16 years old
 If growth delay might give GH + oestrogen
 Refer to gynaecologist but discuss the options for Ix and Rx!