An 18-year-old girl who is virgo intacta attended the gynaecology clinic because she
is yet to start menstruating.
(a) Justify any additional information you will obtain
from her to help you make a diagnosis. (8 marks)
(b) What investigations will you
order on her? (5 marks)
(c) How would you manage this patient? (7 marks)
Common mistakes
● Assuming that she has a chromosomal abnormality and discussing the management of
intersexual disorders
● Discussing postpill amenorrhoea and its treatment
● Justifying why she has PCOS and detailing how to manage this
● Investigating her for infertility and offering treatment for this
● Assuming that she has an adrenal problem and discussing its management
● Listing all the causes of primary amenorrhoea in this young girl
● Failure to justify in part (a)
A good answer will include some or all of these points
(a) Justify any additional information you will obtain from her to help you make a
diagnosis. (8 marks)
● Most likely problem is primary amenorrhoea; history and examination will provide
additional information
● Personal:
● Pubertal milestones – age at thelarche, adrenache
● Medical history – meningitis, headaches, symptoms of thyroid dysfunction
● Drug history – drugs, e.g. androgens, and drugs that may cause hyperprolactinaemia
(e.g. antidepressants, cimetidine, methyldopa, phenothiazines)
● Secretions from breast – inappropriate galactorrhoea
● Associated symptoms, e.g. hirsutism, acne
● Family history:
● Any female siblings? Age at menarche in sisters and mother
● Physical examination:
● Height, body mass, secondary sexual characteristics
● Abdomen for masses
● Virgo intacta – may do a rectal examination otherwise ultrasound scan of pelvis as
examination will not provide as much information as an ultrasound scan
(b) What investigations will you order on her? (5 marks)
● Hormone profile:
● FSH, FH, testosterone, oestradiol, prolactin, TSH, free T4
● Radiological:
● Ultrasound scan of the abdomen and pelvis looking for the uterus, ovaries and
adrenals
● Other radiological investigations to outline the vagina, etc. – vaginography – very
specialised investigations
● Karyotype if indicated:
● If there are external characteristics such as gonads in the groins, abnormal biochemistry, features of Turner’s syndrome (short stature, web-necked, etc.)
(c) How would you manage this patient? (7 marks)
● Depends on the cause
● Idiopathic – treatment: reassurance
● Specific cause – treat (e.g. congenital malformation, thyroid dysfunction, drug-induced,
etc.)
● If karyotypic abnormality – counselling required not only about amenorrhoea but about
implications for fertility
Sample answer
(a) Justify any additional information you will obtain from her to help you make a
diagnosis. (8 marks)
The most likely problem in this young girl is primary amenorrhoea, which is defined as failure
to start menstruation by the age of 16 years. She is already 18 years but whether this amenorrhoea is pathological or constitutional, as most cases are, will depend on several factors.
Therefore, in her management, attempts must be made to exclude pathological causes and
then tailor treatment according to the identified cause.
First, it is important to establish the various milestones of puberty. These will include the
age at thelarche (the first pubertal secondary sexual characteristic) and pubarche. Where these
appeared in the right order and at the right age, primary ovarian function must be considered
to be normal.
The age at which her sisters attained menarche should be established. If this was at about her
age, all that is necessary is reassurance, as the most likely cause is familiar or constitutional.
However, if they attained menarche at an earlier age, pathological causes should be excluded.
However, this must not be considered as an obvious indication that there is a cause, as it can
still be constitutional. Among important factors that must be excluded from the history are:
trauma to the skull, features of an intracranial lesion (such as headaches), visual field abnormalities, galactorrhoea, and features of thyroid dysfunction. Drugs that may induce amenorrhoea should also be excluded, especially those that may interfere with pituitary function, e.g.
steroids, antihypertensive agents, etc. Most of these may do so by inducing hyperprolactinaemia.
A physical examination may identify possible causes of the primary amenorrhoea.
Initially the patient’s height should be measured. If she is of short stature for her age, it could be an
indication of a chromosomal problem, such as Turner’s syndrome. Body proportions and secondary sexual characteristics, such as the breasts, pubic and axillary hair, the carrying angle of
the arm, location of the nipples and the hair line should also be observed. Palpation of the
abdomen and inguinal rings should be undertaken to exclude gonads as in a case of androgen
insensitivity syndrome. Since she is virgo intacta, a vaginal examination would be inadvisable.
However, a rectal examination may be able to palpate the uterus, although this may not be
necessary, especially with the ready availability of ultrasound facilities.
(b) What investigations will you order on her? (5 marks)
A series of investigations are essential in helping make a diagnosis and therefore tailoring
treatment. A complete hormonal profile is required. This will include serum FSH, LH, TSH,
free T4, prolactin, testosterone, sex-hormone-binding globulin and 17-beta-oestradiol. In
addition, an ultrasound scan of the pelvis will be performed, which will define the uterus and
ovaries. However, it must be recognised that sometimes these radiological investigations fail to
reveal pathology. Where there is a suspicion of a chromosomal abnormality, karyotyping
should be performed. The best sample for this is peripheral blood where lymphocytes may be
harvested.
(c) How would you manage this patient? (7 marks)
The treatment will depend on the cause. Where it is constitutional, reassurance is often adequate. However, if this is unacceptable, the combined oral contraceptive pill may be used to
induce menstruation. It must be recognised that when the patient comes off the pill, she may
suffer from amenorrhoea and/or irregular periods. Where the cause is PCOS, as defined by an
abnormal hormone profile, appropriate treatment could be instituted. This may take the form
of the combined oral contraceptive pill or cyclical progestogens. Effectively, the choice is
determined by the presence of other symptoms requiring treatment.
If the primary amenorrhoea is secondary to drugs, these should either be discontinued or
modified. However, if it is not possible to do this, hormonal therapy should be instituted, provided the hormones do not interfere with the drugs. Other causes, such as hypothyroidism,
will be treated accordingly. The more difficult problems to treat are those related to agenesis
of the Müllerian system and intersexual disorders. For disorders secondary to agenesis of the
Müllerian system, appropriate counselling is required and, if the vagina is not formed, a neovagina is created either by surgery or by use of sustained pressure as described by Ingram
(Folch et al., 2000).
Counselling about fertility is important in the management of this patient. Where the cause
is Turner’s syndrome, secondary sexual characteristics will be absent and she could be short.
Here, the treatment of choice is oestrogen to stimulate the uterus and induce growth. Once
this has been achieved, the patient will start menstruation. However, she may be infertile and
require ovum donation. If the cause of the amenorrhoea is androgen-insensitivity syndrome,
the gonads need to be removed and the patient offered hormone replacement therapy. Again,
appropriate counselling will be required to address the issue of fertility
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