ESSENTIAL REVISION NOTES

for Part 2 MRCOG

 v

Contents
Contributors ix
Introduction xi
The MRCOG examination xiii
How to pass the MRCOG first time xv

1. Developmental gynaecology 1
1.1 Paediatric gynaecology 3
1.2 Normal and abnormal development of the genital tract:
intersexuality and primary amenorrhoea 8

2. Gynaecological surgery 19
2.1 Gynaecological surgery 21

3. Menstrual problems and community gynaecology 29

3.1 Secondary amenorrhoea and oligomenorrhoea 31
3.2 Menstrual disorders 35
3.3 The menopause 39
3.4 Contraception 47

4. Pelvic pain and infertility 59

4.1 Infertility and secondary infertility 61
4.2 Chronic pelvic pain 70
4.3 Endometriosis 74
4.4 Pelvic infection 80

5. Urogynaecology 85
5.1 Pelvic organ prolapse 87
5.2 Urinary incontinence in the female 95
vi ESSENTIAL REVISION NOTES FOR PART 2 MRCOG

6. Gynaecological oncology 105

6.1 Benign vulval disease and vulval pain 107
6.2 Vulval pre-invasive disease and vulval cancer 111
6.3 Pre-invasive and malignant disease of the cervix 114
6.4 Endometrial cancer 120
6.5 Malignant and benign ovarian tumours 128

7. Early pregnancy 133

7.1 Early pregnancy problems 135

8. Screening and management of abnormality 147

8.1 Biochemical screening and invasive prenatal diagnosis 149
8.2 Ultrasound diagnosis and management of fetal
abnormalities 153

9. Antenatal management 163

9.1 Antenatal assessment of fetal wellbeing and fetal growth
restriction 165
9.2 Multiple pregnancy 179
9.3 Abdominal pain in pregnancy 185
9.4 Bleeding in pregnancy: antepartum haemorrhage 190
9.5 Preterm labour 196
9.6 Maternal and fetal infections in pregnancy 203

10. Maternal disease in pregnancy 215

10.1 Malignant disease in pregnancy 217
10.2 Diabetes and liver disease in pregnancy 221
10.3 Renal disease in pregnancy 230
10.4 Cardiac disease in pregnancy 234
10.5 Autoimmune conditions in pregnancy 242
10.6 Neurological conditions in pregnancy 246
10.7 Hypertension in pregnancy 251
 CONTENTS vii

11. Intrapartum obstetrics 271

11.1 Induction of labour 273
11.2 Second stage of labour 279
11.3 Caesarean section 292
11.4 Obstetric anaesthesia 296

12. The puerperium 305

12.1 Problems in puerperium 307

13. Clinical governance in obstetrics and gynaecology 317

13.1 Clinical governance in obstetrics and gynaecology 319

Index
 xv

How to pass the MRCOG

first time
1. Allocate adequate time for preparation.
2. Prepare thoroughly.
3. Read constructively.
4. Learn and practise techniques appropriate to each type of question.
5. Try to spot essay topics.
6. Think about your communication skills.

1. Six months is an appropriate time for most people, but be prepared

to allocate much of your spare time to the task. If you can’t prepare
thoroughly, consider delaying taking the exam. It is very depressing
to fail and it takes considerable time to pick yourself up and get re-
motivated. More importantly, you don’t want to sacrifice more than one
six-month slab of your life to the exam.
The written exam is the hardest part with a much lower pass rate than the
clinical. So concentrate on the written exam; you will have enough time
to prepare for the OSCE once you have passed. The one thing you can
think about and refine in the interim is your communication with patients,
of which more below.

2. Prepare thoroughly.
a. If you don’t know enough, you fail! Obvious and basic. Talk to trainees
who have recently passed the exam. What did they read? What courses
did they attend and how useful were they? Make use of all learning
opportunities within your department and further afield.
It is crucial that you know everything the RCOG has produced: “Green-
Top” guidelines etc. You can access all of this on the section “guidelines”
on the College web page: www.rcog.org. Similarly, NICE produces
guidelines, www.nice.org.uk. The RCOG and NICE advice are the most
important and must be known well enough for you to refer to it in the
essays and use it to answer MCQs.
xvi

b. The next vital reading is TOG: “The Obstetrician and Gynaecologist”.

Details can be found on the College web page. You should have read all
of the articles for the past two or three years. StratOG is also available via
the RCOG web page as are examples of past exam questions.
c. There are subsidiary sources of advice. The Department of Health,
www.dh.gov.uk, issues advice and information on current topics,
such as fortification of flour with folic acid, screening of neonates for
cystic fibrosis. The British Medical Association produces some data of
relevance to the exam, e.g. its document on alcohol and pregnancy of
June 2007. Professional associations of other countries produce advice
e.g. the American College of O & G, www.acog.org. The Centers for
Disease Control issue advice, e.g. on immunisation in pregnancy, www.
cdc.gov. CEMACH publishes data on maternal and neonatal mortality
and morbidity. OMIM is invaluable for looking up genetic conditions,
www.ncbi.nlm.nih.gov/omim. Use these for data you can’t find
elsewhere, but don’t get sidetracked into wasting time on obscure stuff.
d. A new maternal mortality report has been published in December 2007
and its key statistics and recommendations are essential reading.
e. Know at least one textbook thoroughly. This textbook allows the
candidate to read the essentials for the exam.
f. I like my trainees to go through the MCQ papers I use for my DRCOG
candidates, in the early weeks of their preparation, www.tmcf.demon.
co.uk. Their virtue is that they span most of the spectrum of MRCOG
topics including some that are not well-covered in the textbooks. For
example, paper 2, question 40 gives you all you need to know about
Fragile X syndrome and FXTAS. Some of the answers are MRCOG level,
like the one on Fragile X and paper 1, question 1, which deals fairly
exhaustively with MSAFP. Others are obviously more DRCOG standard.
g. You need to read related subjects: genetics, family planning,
neonatology, sexually-transmitted disease etc. Family planning is best
learned on a training course for the DFFP. These courses are reportedly
excellent and provide all you need to know for the MRCOG. The Faculty
of Family Planning puts loads of good information and protocols on
its web page and details of courses, www.ffprhc.org.uk. HRT is a fast-
changing subject and you need to be sure that you are up-to-date with
the latest advice. You can get this from the UK and American menopause
societies, www.thebms.org.uk and www.menopause.org., and by
keeping abreast of the latest advice from studies such as WHI,
www.nhlbi.nih.gov/whi. You need to know resuscitation of the
 xvii

newborn and its latest protocol. The best source of information is a

paediatric registrar or consultant neonatologist. Neonatal jaundice is a
common topic. You could be asked about examination of the newborn,
management of congenital abnormality, from CDH through to ambiguous
genitalia or diaphragmatic hernia and neonatal infection.
h. There are stacks of books written specifically for the MRCOG, e.g.
“MRCOG Revision Made Easy” by Ngwenya and Lindow and “Extended
Matching Questions for the MRCOG”, edited by Singh; both texts
published by PasTest. These give good insight into the exam and are
inexpensive. The more you practise MCQs, EMQs and essays the better.
i. You need to be au fait with Clinical Governance, Protocols, Risk
Management, Audit, etc. as practised in the UK. This is particularly
important if you have not worked in the UK, as the systems under which
you have trained may be significantly different. A chapter is included in
this book. Similarly, you need to know about Consent and Complaint
procedures. The College has produced advice on Consent, accessible
via its web page. The GMC has done the same, but its advice is rather
large.
You should know the basics of joint publications by the RCOG, RCM and
DOH such as “Towards Safer Childbirth” and “Changing Childbirth”.
Most of these matters are dealt with elsewhere in this book.
A recent OSCE examination included a viva on electrodiathermy. This
was a killer and could feature in an essay or MCQ. See the section on
surgery and my web page for further information. You need to think of
subjects that could crop up that are not met in routine practice, e.g.
malaria or tuberculosis in pregnancy. You need to be well versed in HIV
and pregnancy. There is a RCOG guideline. There are a number of web
sites to keep you up to date, in addition to the. British HIV Association,
www.bhiva.org. The Health Protection Agency, www.hpa.org.uk.
publishes loads of facts. The intercollegiate report, “Reducing Mother
to Child Transmission of HIV Infection in the United Kingdom”, July
2006, can be accessed via its web page, www.hpa.org.uk/publications/
PublicationDisplay.asp?PublicationID=93. There is also an up-to-date
information sheet on my web page.
j. Read constructively.
The immediate conclusion from the above might be that the task is
impossible! It isn’t, but it means that your reading has to be disciplined. It
is also evident that you cannot read most things more than once. Hence,
xviii

you need a technique that allows you to capture all of the important
information at the first sitting. Ideally this should be in a format that
facilitates revision so that all of the information is securely stashed in
your head and available for the exam. You can’t just read and hope that
everything relevant will stick.
My advice is that you use cards – postcard-size or slightly smaller. Big
enough to contain the information you want, but small enough to carry
in a pocket, so that you can go through them whenever you have a
spare moment at work. For example, you might make out a card on
postmenopausal bleeding and the risk factors to elicit in the history. On
the front of the card you would write the title, “Postmenopausal bleeding”
with a sub-text, “Risk factors to elicit from the history”. You would then
make out a list of all the things you feel should be included. There would
be obvious things such as the frequency and duration of the bleeding,
associated symptoms like discharge or pelvic pain, a history of treatment
for gynaecological malignancy or pre-malignancy etc. You would include
the increased risk with unopposed oestrogen and the reduced risk with
continuous, combined HRT. Family history would include the possibility
of the woman being from a HNPCC family etc. Once you had compiled
your list on the back, you would count the items and put the number on
the front, so that when you use the card for revision, you read the front
and have to try to recall all of the headings on the back. This book has
been written in a manner that can be re-read on several occasions and
provides a format for remembering the facts.
There are several values to this system. You have to read analytically to
ensure that you have captured all of the important points in whatever you
are reading. Often when we are reading we are only half concentrating.
You can’t do this if you have to make out cards. Once you have made
out your cards, you do not need to read the source again. You should
then revise the cards time and again until they are memorised and their
contents are easily recalled.
k. Learn and practise appropriate techniques.
MCQs and EMQs are best practised using the books mentioned above.
The technique for the MCQs is to go through the questions answering
all those you are confident you know. Then go back through answering
those you need to think about. Finally, guess the ones about which
you have no clue. You will still get some marks as there is no negative
marking. Keep an eye on the time to ensure that you answer every
question.
 xix

With EMQs read what the question is about and then the “lead in”.
You should then have a pretty good idea of what the answer is. You
can then read the list of options. There will probably be one or two
answers close to what you thought the answer should be. The hard bit
is deciding which the best option is. You might have to do a bit of lateral
thinking. A recent question was along the lines of a woman admitted at
28 weeks with significant hypertension and features of PET. A question
was whether she should first have a hypotensive drug or magnesium
sulphate. For most people it was a daft question as you would administer
both. However, it you think it through, the biggest risk to her health is
intracranial haemorrhage from bleeding due to hypertension.
For the essays, you should prepare as many model answers as you
can. See the section below on “spotting” questions and prepare model
answers for anything you think likely.
Take the subject “postmenopausal bleeding”. You should be able to
write a model essay on “A woman of 55 presents with postmenopausal
bleeding. Critically evaluate the investigation”. Write model answers on
all of the questions you think are likely. Make sure that the model answer
can be written in about twenty minutes and on one piece of paper. Don’t
write a textbook, it will not avail you in the exam!
Many of the patients you meet in clinical practice will have problems that
could form the basis of an essay. Make a note of the problem and write
an essay. This first thing to do is to make out a plan. Write all the things
you believe to be important. The idea is to get ten or so headings. In
the exam each of these will attract one or more marks, so you can be
confident of a pass.
In the exam itself, spend the first five minutes reading the question
carefully and several times. The examination committee will have
worded it carefully to ensure that the subject can be covered in the
time you have. So the question above on PMB excludes treatment
and there would be no marks for anything you wrote about it. A
classic essay question was the first one to appear in the exam about
domestic violence. The question detailed a woman attending the
antenatal clinic with multiple bruises. It went on to say that full medical
and haematological investigation were normal and to ask about the
management. I marked this question and the pass rate was abysmal.
Most people ignored the advice about the investigations being normal
and repeated all the tests they would do. For which endeavours they got
no marks!
xx

l. Spotting Essay Topics.

This is a useful game. A topic that appeared in the last exam is not likely
to reappear for a few years as most people will be aware of the questions
asked and have thought about how they would have answered. So, it is
useful to know the questions that occurred in the papers over the past
couple of years.
The exam has to test you on all the basics and anticipates an awareness
of things of topical interest. TOG and the review books try to keep all
the important and topical issues up-to-date, so it should be no surprise
that as many as half of any batch of essay questions will have featured
in TOG. Make sure that you have read the back issues from the previous
two or three years.
Current topics appear as editorials and leading articles in journals such
as the BMJ, Lancet, British Journal of O&G, etc. It is worth spending an
afternoon once a month in the library going through them for the past
couple of years. Make out cards on each topic. The articles will generally
give comprehensive answers that would make perfect model essays.
m. Think about your communication skills.
This book is not intended to cover the clinical examination. Nonetheless,
you can think about improving your communication skills in anticipation
of the role-play stations. I like my trainees to use a set form of words
when introducing themselves to patients, encouraging patients to ask
questions, explaining difficult concepts like recessive inheritance etc. You
can find details on my web page. Many hospitals have training in general
communication skills and in dealing with specific problems like breaking
bad news. Get on these courses and start honing your skills.
 1

1
Developmental
gynaecology
 DEVELOPMENTAL GYNAECOLOGY 3

1.1 PAEDIATRIC GYNAECOLOGY

Except in specialised paediatric clinics, the presentation of children and
adolescents in the general gynaecology clinic is relatively uncommon. Many
children failing to reach their milestones are usually seen by the community
paediatrician; however, some patients may be referred after a diagnosis of
chromosomal abnormality, with abnormalities in genital anatomy or with
vaginal discharge and menstrual problems. Often reassurance of the patient
or parent is all that is required; however, knowledge of normal development
and functioning of the genital tract is essential in the identification and
understanding of abnormality.
Chromosomal and genital anomalies are discussed elsewhere (Section 1.2).
Problems may be seen prior to, during or after puberty.

1.1.1 Prepuberty
Vulvovaginitis
Early in neonatal life the high postpartum levels of oestrogen protect the
vagina from infection. Shortly after, the fall in circulating oestrogens renders
the vaginal epithelium exposed to opportunistic bacterial colonisation. This is
compounded by poor hygiene, the neutral pH and lack of lactobacilli.
The causes of vulvovaginitis are summarised in Table 1.1. Non-specific
bacterial contamination is the most common diagnosis, with dermatitis and
fungal infection being less common. The clinician should approach with
caution if sexual abuse is suspected.

Bacterial
Viral
Candida
Dermatitis
Foreign body
Sexual abuse
Enuresis

Table 1.1: Causes of vulvovaginitis

4 ESSENTIAL REVISION NOTES FOR PART 2 MRCOG

Management
On examination careful inspection of the vulva and vagina is necessary.
Swabs may be taken, however discharge is most likely to be due to non-
specific infection or faecal contamination. Occasionally examination under
anaesthetic may be required to remove foreign objects. Parents should be
reassured of the benign nature of the discharge and the absence of long-
term sequelae. Parents should also be advised of good hygiene and washing
with gentle soaps and avoidance of excessive cleansing. Occasionally during
acute attacks the use of barrier creams may become necessary as micturition
may be painful.

Labial adhesions
Adhesions of the labia is a benign condition that usually resolves
spontaneously on activation of the ovaries and the production of oestrogen.
This condition usually manifests in early childhood as a result of a hypo-
oestrogenic state. Parental reassurance and the use of topical oestrogens for
2 weeks usually resolve the problem. Careful history taking should rule out
sexual abuse, which may occasionally present in this way.

1.1.2 Puberty
The change from childhood to adolescence is marked by puberty. Initially
this is marked by the development of breasts, then secondary sexual hair
growth and then menarche. Breast and hair growth is described in five stages
by Marshall and Tanner staging. The average age of menarche is variable;
however, the lack of breast development by the age of 14 years is abnormal.
Precocious puberty tends to be the domain of the paediatrician. Menarche
is usually preceded by accelerated growth that continues 2 years after the
onset of periods. Oestrogen leads eventually to closure of the epiphyses
and attainment of final height. The average length of time from the onset of
puberty to menarche is 5 years.

Idiopathic
Exogenous oestrogen ingestion
Ovarian and adrenal tumours
Cerebral tumours
Hydrocephalus
Postmeningitis
McCune–Albright syndrome (café-au-lait spots and polyostotic fibrous dysplasia)
Table 1.2: Causes of precocious puberty
 DEVELOPMENTAL GYNAECOLOGY 5

Gynaecologists are more likely to see patients concerned with delayed

puberty than with precocious puberty. Sensitive questioning with the regards
to breast development, hair growth and increase in height will ascertain
if puberty has initiated. Examination of external genitalia and breasts
should be performed sensitively. Internal examination is not necessary as
ultrasound will confirm the presence of a uterus and ovaries. Measurement of
gonadotrophins and oestrogen with possible karyotyping may be necessary.
Primary amenorrhoea is considered in Section 1.2.

1.1.3 Adolescence
Menorrhagia
The definition of menorrhagia is a loss of greater than 80 ml. This is extremely
difficult to quantify and personal perception varies considerably. Many
patients are seen as school work is affected and examinations are looming.
If there is doubt then a haemoglobin concentration may prove to be useful
and reassurance given in the absence of anaemia. If anaemia is confirmed
the most successful form of treatment is use of the oral contraceptive pill,
however exclusion of bleeding disorders, especially if a positive family history
is found, is important.

Dysmenorrhoea
Dysmenorrhoea usually responds to simple analgesia and use of the
oral contraceptive pill. In some patients who have severe or refractory
dysmenorrhoea then the clinician should be alert to anatomical anomalies
which may lead to partial obstruction of menstrual flow. In some patients
endometriosis may be the problem and laparoscopy warranted.

1.1.4 Primary amenorrhoea

Menarche is a result of a cascade of events that involves a variety of organs.
Failure in any of these organs results in amenorrhoea. The investigation of
primary amenorrhoea should occur by the age of 16 years, with secondary
sexual development by the age of 14 years. However, if a girl is brought to
the clinic prior to this age by the parents and reassurance is not sufficient,
investigations should be instigated (Figure 1.1).
Making the correct diagnosis requires a methodical approach and is dependent
primarily on whether milestones for secondary sexual characteristics have been
met (Figure 1.2). There are numerous causes for primary amenorrhoea. The
most common physiological causes in the UK are due to anorexia and excessive
exercise. Other causes are found in other chapters.
6 ESSENTIAL REVISION NOTES FOR PART 2 MRCOG

Figure 1.1: Pathway for investigation of primary amenorrhoea in a patient with

normal development of secondary sexual characteristics. FSH, follicle-stimulating
hormone; LH, luteinising hormone; PCOS, polycystic ovary syndrome. (Adapted
from Edmonds 2007.)

Figure 1.2: Pathway for investigation of primary amenorrhoea in a patient with

absent secondary sexual characteristics. (Adapted from Edmonds, 2007.)
 DEVELOPMENTAL GYNAECOLOGY 7

1.1.5 Conclusion
Reassurance is usually the only intervention required in paediatric
gynaecology, however the clinician must be alert to a variety of abnormalities
that may present. Delay in diagnosis often leads to anxiety and may be
detrimental to the long-term function in these patients.

& References and further reading

Edmonds D K. 2007. Dewhurst’s Textbook of Obstetrics and Gynaecology for
Postgraduates. Oxford: Blackwell.
Garden A S, Topping J. 2001. Paediatric and Adolescent Gynaecology for the
MRCOG and Beyond. London: RCOG Press.
Hayes L, Creighton S M. 2007. Prepubertal vaginal discharge. The
Obstetrician & Gynaecologist, 9, 159–163.
8 ESSENTIAL REVISION NOTES FOR PART 2 MRCOG

1.2 NORMAL AND ABNORMAL DEVELOPMENT

OF THE GENITAL TRACT: INTERSEXUALITY
AND PRIMARY AMENORRHOEA
A large variety of abnormalities may occur in the development of the
genital tract. The majority of these may be due to defects in embryological
development, hormonal or aberrant karyotypes. An understanding of normal
development is essential.

1.2.1 Normal development

Sexual differentiation is determined at the moment of conception by the
presence or absence of the Y-chromosome. The sex-determining region on
the short arm of the Y-chromosome encodes for testicular determining factor.
Ovarian determination is determined by the presence of two X-chromosomes
and the ovarian determinant is located on the short arm; deletion of this area
leads to ovarian agenesis.

Gonadal differentiation
Initially, the gonads appear as a pair of longitudinal ridges (the genital or
gonadal regions) and are formed by proliferation of the coelomic epithelium.
Germ cells do not appear in the genital regions until the sixth week of
development. These primordial germ cells appear in the endoderm of the
yolk sac and migrate by amoeboid movement and invade the genital ridges.
Non-development of the gonads occurs if there is failure of the germ cells to
reach the genital ridges. Primitive sex cords then form from proliferation of
the genital ridge. At this stage it is impossible to determine between the male
and female gonad and this is known as the indifferent gonad. Simultaneously,
the two Müllerian (paramesonephric) ducts also appear lateral to the Wolffian
ducts and the cloacal membrane and folds are separated into the anterior
urogenital and posterior anal parts.
In the male fetus the primitive sex cords continue to proliferate and penetrate
deep into the medulla to form the testis or medullary cords. Later, the testis
cords lose contact with the surface epithelium and are separated by a dense
layer of fibrous tissue, the tunica albuginea. By the fourth month the testis is
now composed of primitive germ cells and sustentacular cells of Sertoli. The
interstitial cells of Leydig develop from the mesenchyme located between the
testis cords. It is not until puberty that the cords then acquire a lumen forming
the seminiferous tubercles.
In the female, the primitive sex cords are broken up into irregular cell clusters.
Later these clusters disappear and are replaced by vascular stroma forming the
 DEVELOPMENTAL GYNAECOLOGY 9

ovarian medulla. Unlike the male, the surface epithelium continues to proliferate.
A second generation of cords are subsequently formed known as the cortical
cords. In the fourth month, these cords are split into isolated clusters each
surrounding at least one primitive germ cell. The germ cells then develop into
oogonia and the surrounding epithelial cells become the follicular cells.

Differentiation of the genital ducts

Initially, both male and female embryos have two pairs of ducts: the Wolffian
(mesonephric) and the Müllerian (paramesonephric) ducts. The Müllerian
ducts arise from the coelomic epithelium and cranially open into the coelomic
cavity. Caudally, the two Müllerian ducts fuse in the midline to form the
uterine canal (later forming the uterus, cervix and upper part of the vagina).
Differentiation into the male or female reproductive genitalia is under the
influence of various hormones (Table 1.3). In the male, testosterone is
secreted from the testis. Testosterone undergoes peripheral conversion
into dihydrotestosterone where it causes development of the male external
genitalia. In addition to this hormone the Sertoli cells secrete Müllerian
inhibiting substance [MIS (also known as anti-Müllerian hormone or AMH)],
which leads to regression of the paramesonephric duct. In the female, the
Müllerian structures continue to develop under the influence of maternal and
placental oestrogens.

Development of the vagina

After the Müllerian ducts have reached the urogenital sinus, two solid
invaginations grow. These invaginations, the sinovaginal bulbs, canalise by
the fifth month of development. Thus, the vagina has a dual origin, with the
upper third arising from the Müllerian ducts and the lower two-thirds arising
from the urogenital sinus.

Male differentiation Female differentiation

44 + XY 44 + XX
Y influence XX influence
Testis: Ovary:
• development medullary cord • degeneration of medullary cords
• cortical cords absent • development of cortical cords
• thick tunica albuginea • absent tunica albuginea
MIS ® suppression of Müllerian structures
Androgens ® Wolffian ducts, external Oestrogens ® development of Müllerian
genitalia structures and external genitalia
Table 1.3: Differences in male and female differentiation. MIS, Müllerian inhibiting
substance
10 ESSENTIAL REVISION NOTES FOR PART 2 MRCOG

1.2.2 Abnormal development

Müllerian anomalies
Numerous abnormalities have been described, many with no clinical
relevance and others with profound importance. The incidence is
approximately 0.5% of the population, with a higher incidence in those
patients with infertility. The American Fertility Society classification is most
commonly used. This classification includes the following anomalies:
• hypoplasia/agenesis
• unicornuate
• didelphys
• bicornuate
• septate
• arcuate
• diethylstilboestrol related

Aetiology and presentation

The cause of Müllerian anomalies is unknown. It is assumed that
abnormalities in the development of the paramesonephric ducts are
responsible. This may be due to non-development of one or both ducts
or non-canalisation. Seventy-five percent of women with anomalies will be
asymptomatic and other presenting symptoms are summarised in Table 1.4.
Secondary sexual characteristics are not affected as ovarian development is
usually normal.

Symptoms Clinical presentation

Primary amenorrhoea Pelvic mass:
• Haematocolpos/haematometra
Severe dysmenorrhoea (obstruction to Ectopic pregnancy
menstrual flow)
Menorrhagia Obstetric complications:
Dyspareunia (vaginal septum) • Uterine rupture
• Malpresentation/abnormal lie
• Preterm birth
Infertility/recurrent miscarriage Endometriosis
Table 1.4: Common symptoms and presentation of Müllerian anomalies
 DEVELOPMENTAL GYNAECOLOGY 11

Management
Appropriate and sensitive questioning, examination and counselling
are often required, as are investigation with ultrasound, MRI and
hysterosalpingograms. More invasive investigation with hysteroscopy and
laparoscopy are often indicated too. Due to the association of genital with
urinary tract malformations the use of intravenous pyelograms is warranted.
The management of these anomalies is dependent on the actual anatomical
abnormality and its significance. An imperforate hymen may present in
neonatal life with a mucocolpos or at puberty with cyclical pain and the
presence of a purple-blue bulge at the introitus. Presentation at puberty
may be accompanied by cyclical abdominal pain and primary amenorrhoea
prior to referral to the gynaecologist. Treatment is simple and effective by
performing a cruciate incision and thus allowing drainage and flow.
Any abnormality preventing efficient flow of menstruation should be corrected
to prevent the formation of endometriosis.
Vaginal septae can be removed surgically. It is prudent to remove the entirety
of the septum to prevent the formation of a stenotic ring that may lead to
dyspareunia. Occasionally a combined abdomino-perineal procedure is
required.
Uterine septae may be removed hysteroscopically and horns of a bicornuate
uterus may be joined together by an abdominal metroplasty.

Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Otherwise known as Rokitansky syndrome, this condition is characterised by
agenesis or hypoplasia of the vagina and uterus. The incidence in the UK is
estimated at between 1 in 4000 and 1 in 6000 females.
This condition usually presents with primary amenorrhoea with normal
secondary sexual characteristics. There is a high incidence (30%–40%) of
associated urological anomalies.
Management of these patients may require surgical interventions that can
both create and enlarge the vagina, or the use of vaginal dilators. The
most important part of the management is psychological; this will need to
encompass acceptance of the condition, forming relationships and improving
sexual function.
12 ESSENTIAL REVISION NOTES FOR PART 2 MRCOG

Wolffian duct anomalies

Partial failure of the Wolffian duct to regress may lead to the presentation of
cysts lateral to the paramesonephric structures. Usually asymptomatic, these
cysts can grow to a considerable size and lead to dyspareunia. Gartner’s
duct cyst may be found anywhere from the broad ligament down to the
vagina and may be found in the vulva. The epoophoron and paroophoron
may be found adjacent to the ovary.
Usually reassurance is the mainstay of treatment, however occasionally
surgery is required. If considering surgery, a degree of caution should be
exercised especially when removing cysts vaginally as these may extend into
the abdominal cavity.

1.2.3 Intersexuality
A large variety of intersex conditions occur and are caused by a deficiency
either in enzymes or production of MIS; only the most common are
considered here. MIS is a glycoprotein secreted by the Sertoli cells.
It appears to have a unilateral action in causing the regression of the
paramesonephric ducts. The sensitivity of these ducts to MIS appears only
to be present in the first 8 weeks of development. Testosterone produced
by the developing testis is converted to dihydrotestosterone primarily by the
enzyme 5a-reductase. Abnormality in this enzyme may lead to abnormal
development of the external genitalia leading to intersex.

Definition and incidence

Intersex is defined as mix or blend of the physically defining features
associated with males or females.
The incidence is unknown, but has an estimated prevalence of 1 in 2000.
There appears to be a higher incidence in offspring of consanguineous
relationships.

Aetiology
Sexual development may be abnormal in the following circumstances:
• 46XX/46XY mosaicism
• Anatomical/enzymatic testicular failure
• Androgen insensitivity
• Deficient MIS production
• Excessive testosterone production in a female fetus (eg congenital
adrenal hyperplasia)
 DEVELOPMENTAL GYNAECOLOGY 13

• In a genetic female, genes capable of production of the H-Y antigen may

be found on an autosome leading to the 46XX male
• True hermaphroditism

Presentation
Intersex may present in a variety of ways at different times of life depending
on the severity of associated symptoms (Table 1.5).

Neonate Infant Adolescence/adulthood

Ambiguous genitalia at Ambiguity of developing Pelvic mass with gonadal
birth genitalia tumour
Salt-losing crisis Inguinal hernia with Primary amenorrhoea
(congenital adrenal unexpected gonad
hyperplasia)
Sibling history of intersex Delay in puberty
Sexual dysfunction
Infertility
Table 1.5: Presentation of intersex at different times of life

Investigation
Initial investigation is dependent on presentation. Tests often required
include:
• Karyotype
• Testosterone, luteinising hormone and follicle-stimulating hormone, 17-
hydroxyprogesterone
• Androstenedione, dihydrotestosterone, oestradiol
• Human chorionic gonadotrophin (hCG) stimulation test
• Synacthen test
• Renal ultrasound
• MRI

Management
An early and correct diagnosis is paramount. Unnecessary delay and
inaccurate diagnosis only confound the psychological trauma to the
individual or their parents. Involvement of a multidisciplinary team is essential.
This team should consist of an endocrinologist, psychologist, gynaecologist
14 ESSENTIAL REVISION NOTES FOR PART 2 MRCOG

and surgeon. Access to peer support via national organisations should be

encouraged.
Consideration of sex of rearing and of cosmetic genital surgery are assigned
where appropriate. The long-term implications for surgery are not well known,
with many children requiring further surgery or the use of dilators later in life.

Congenital adrenal hyperplasia (46XX)

This is the most common cause of female intersex, with an estimated UK
prevalence of 1 in 10 000. It is an autosomal-recessive condition caused
by an absence of 21-hydroxylase in the adrenal gland. This enzyme
deficiency results in a failure of conversion of 17a-hydroxyprogesterone
to desoxycortisol and also progesterone to desoxycorticosterone. Ninety
percent of cases are due to 21-hydroxylase deficiency with the others being
caused by 3b-hydroxysteroid hydrogenase and 11b-hydroxylase deficiency.
The female initially develops normal external genitalia and ovaries, but, due to
an absence of cortisol, the resultant adrenal hyperplasia results in high levels
of androgens. These high levels of androgens account for the masculinising
effects and the appearance or male external genitalia at birth.
This condition may be life-threatening owing to a salt-wasting crisis in the
neonate. Management is to correct the electrolyte balance and to treat the
adrenal hyperplasia. Reassurance of parents and female gender assignment
is usual. Adolescents or adults considering cosmetic surgery in the future to
reduce the size of the clitoris should be warned of an approximately 25% risk
of clitoral damage. In addition, at puberty the vagina should be reviewed to
identify stenosis or hypoplasia.
Other causes of female (46XX) masculinisation include rare causes of
increased maternal androgens, eg in benign hormone secreting tumours and
ingestion of danazol.

End-organ insensitivity (46XY)

This autosomal-recessive condition results in the development of normal
Wolffian structures and regression of Müllerian structures due to normal
production of MIS. Testosterone is converted to dihydrotestosterone via
the enzyme 5a-reductase-type 2 and it is thought that a deficiency in this
enzyme leads to end-organ insensitivity. Another enzyme 17b-hydroxysteroid
dehydrogenase-type 3, involved in the production of testosterone in the
testis, may also be responsible. Thus, poor masculinisation of genital organs
is present at birth. Initially, these patients are assigned as a female, however
after puberty high levels of testosterone lead to virilisation to an extent
that the patient may wish to change their gender. Even then the penis size
 DEVELOPMENTAL GYNAECOLOGY 15

tends to remain barely adequate. Early diagnosis and gender assignment in

individual cases is the management of choice. Fertility may be possible as a
male, although infertility is common. hCG stimulation of the gonad for 3 days
followed by a measurement of testosterone levels will confirm the diagnosis.

Androgen insensitivity (46XY)

Previously known as testicular feminisation; this condition is characterised
by the absence of a uterus and cervix and a blind-ending vagina. This
usually presents with delayed menarche with normal breast development.
The condition is caused by a disruption in the androgen receptor gene.
Testosterone levels are in the normal male range and oestrogen levels are
where normal male and female levels overlap. These patients have normal
female behaviour and gender identity. Patients have an increased risk
(approximately 5%) of developing testicular cancer and gonadectomy is
considered.

Complete XY gonadal dysgenesis

In the absence of activation of the sex-determining region of the Y
chromosome, testicular development is halted and the result is female
development in the male. The resulting gonad is dysgenetic and is streaked.
These patients will develop a normal uterus and hair growth, but will present
with primary amenorrhoea and poor breast development. The biochemical
picture will reveal raised gonadotrophins with low testosterone and
oestrogen. Gonadectomy is recommended due to the high risk of malignancy
and hormone replacement therapy with oestrogen and progesterone will lead
to menstruation. Donor oocytes can lead to pregnancy.

True hermaphroditism
Rare in Europe and USA, a higher prevalence is seen in Africa. The gonads
may be a varying mix of testis and ovary. They present with differing degrees
of sexual ambiguity. The degree of masculinisation is thought to be due to the
proportion of testicular tissue. The karyotype is commonly 46XX, with some
having a mosaic XX/XY and fewer having 46XY. Gender assignment may be
difficult and should be ascertained on an individual basis. Eighty percent
have female organs and are potentially fertile.

1.2.4 Karyotypic abnormalities

Turner syndrome
This is the commonest abnormality of women involving the sex
chromosomes. The majority of pregnancies with this karyotype are usually
16 ESSENTIAL REVISION NOTES FOR PART 2 MRCOG

miscarried. Approximately 15%–20% of all miscarriages have a 45X

karyotype.
Turner syndrome affects 1 in 2000 female live-births. Antenatal ultrasound has
diagnosed more cases with the findings of cystic hygroma and non-immune
hydrops, with over half these patients having some form of mosaicism.
Intelligence is normal.
Patients with Turner syndrome are usually diagnosed before seeing the
gynaecologist, due to failure to reach growth milestones and physical
manifestations of disease (Table 1.6).
Management of these patients requires the administration of hormone
replacement therapy, usually via the oral contraceptive pill, and this should
continue until the age of 50. Fertility is usually achieved by donor oocytes,
however spontaneous conceptions have been reported for patients with
mosaicism. However, patients who achieve pregnancies are at increased risk
of miscarriage.

Presentation Physical anomalies Long term complications

Growth failure/short stature Webbed neck Cardiac defects/aortic
aneurysm
Primary amenorrhoea/ Shield chest Hypertension
absent secondary sexual
characteristics/ovarian failure
Cubitus valgus Diabetes (25%)
High arched palate Hypothyroidism (30%)
Renal dysgenesis Sensorineural hearing loss
(50%)
Nail dysplasia Osteoporosis
Eye deformities
Table 1.6: Presentation, physical anomalies and long-term complications of Turner
syndrome

Other karyotypic abnormalities

47XXX occurs in 1 in 1000 live-born females. Intelligence is usually below
average. Patients may present with secondary amenorrhoea due to
premature ovarian failure. If conception occurs offspring usually have normal
karyotype.
 DEVELOPMENTAL GYNAECOLOGY 17

Almost all females with 48XXXX and 49XXXXX have below-average

intelligence and suffer from premature ovarian failure.

1.2.5 Conclusion
Although relatively complex, abnormal development requires a step-wise
approach to an accurate diagnosis. A multidisciplinary team approach and
reassurance of the patient are paramount. Education of the patient and their
involvement in national peer organisations prove to be rewarding.

& Further reading and references

Creighton S, Minto C. 2001. Managing intersex. British Medical Journal, 323,
1264–5.
Ranke M B, Saenger P. 2001. Turner’s syndrome. Lancet, 358, 309–14.
Warne G L, Zajac J D. 1998. Disorders of sexual differentiation. Endocrinology
and Metabolism Clinics of North America, 27, 945–67.