Marking-oriented Answer Key: Obstetrics and Gynaecology
Use clear headings, underline key terms, and add a simple labelled diagram where relevant, especially for malpresentations, pelvic planes, breech, and obstructed labour.
Section B
Q1. Brief Answers
(a) Enumerate four causes of prolonged labour. (2 marks)
Causes are classified by the 3 Ps:
- Power: inefficient uterine contractions, uterine inertia.
- Passenger: large fetus, malpresentation or malposition such as persistent occipitoposterior position.
- Passage: contracted pelvis or cephalopelvic disproportion (CPD).
- Soft-tissue obstruction: cervical fibroid, ovarian tumour, full bladder.
(b) Give two causes of occipitoposterior position and its management. (2 marks)
Causes, any two
- Android or anthropoid pelvis.
- Deflexion of fetal head.
- Lax abdominal wall, common in multiparity.
- Placenta attached anteriorly.
- Pendulous abdomen.
Management
- Watch labour using partograph, monitor fetal heart rate and progress.
- Most cases undergo long internal rotation to occipitoanterior position and deliver spontaneously.
- If delay occurs, correct poor uterine action, ensure bladder is empty, and provide analgesia.
- Persistent OP with full dilatation:
- Manual rotation followed by forceps or vacuum, if criteria for instrumental delivery are fulfilled.
- Caesarean section for CPD, fetal distress, failed rotation, or arrest of descent.
(c) Enumerate two structures cut in episiotomy. (2 marks)
In a mediolateral episiotomy, the structures cut include:
- Vaginal mucosa and submucosa.
- Perineal skin and superficial fascia.
- Bulbospongiosus muscle.
- Superficial transverse perineal muscle.
- Fibres of levator ani may be involved in a deep incision.
Write any two.
(d) Enumerate two preliminaries for external cephalic version. (2 marks)
Before ECV:
- Confirm presentation, placental site, liquor, fetal viability, and absence of contraindication by ultrasound.
- Perform CTG or fetal heart-rate assessment before the procedure.
- Obtain informed consent and keep facilities for emergency caesarean delivery available.
- Empty the urinary bladder.
- Give tocolysis, for example terbutaline, unless contraindicated.
- Ensure mother is Rh typed. Give anti-D immunoglobulin to unsensitized Rh-negative women after the procedure.
Any two earn full marks. ECV is generally offered around 36-37 weeks in a suitable singleton breech pregnancy, where immediate caesarean delivery is available.
ACOG ECV guidance
(e) Enumerate two advantages of ventouse over forceps. (2 marks)
- Requires less anaesthesia and causes less maternal soft-tissue trauma.
- Easier to apply and usually easier to learn.
- Occupies less space in the pelvis.
- Permits some autorotation of the head.
- Less risk of severe maternal perineal and vaginal lacerations.
(f) Enumerate stages I and II of endometrial carcinoma. (2 marks)
FIGO Stage I
Tumour confined to corpus uteri.
- IA: Tumour limited to endometrium or invades less than half of myometrium.
- IB: Invades one-half or more of myometrium.
FIGO Stage II
Tumour invades cervical stroma, but does not extend beyond the uterus.
(g) Enlist two indications of colposcopy. (2 marks)
- Abnormal cervical cytology, such as HSIL, ASC-H, persistent LSIL, or persistent HPV positivity.
- Clinically suspicious cervix, including contact bleeding, postcoital bleeding, erosion, ulcer, growth, or suspected malignancy.
- Follow-up after treatment of CIN.
- Cytology suggestive of glandular abnormality.
(h) Enlist two potential complications associated with Wertheim hysterectomy. (2 marks)
- Ureteric injury, fistula, or ureteric obstruction.
- Urinary bladder dysfunction, retention, or atonic bladder due to autonomic nerve injury.
- Haemorrhage and blood transfusion.
- Bowel injury.
- Lymphocyst, lymphoedema, or deep-vein thrombosis after pelvic lymphadenectomy.
- Sexual dysfunction and vaginal shortening.
(i) Identify the condition and enumerate two anticipated complications.
Diagnosis: Breech presentation in labour, most likely frank breech.
Clues:
- Fundal hard, globular, ballotable mass: fetal head.
- Soft irregular mass in pelvis: breech.
- Fetal back on left side.
- Cervix 4 cm dilated and fully effaced.
Complications, any two
Fetal
- Cord prolapse, especially in footling breech.
- Birth asphyxia due to delay in delivery of after-coming head.
- Entrapment of after-coming head.
- Birth trauma: intracranial haemorrhage, brachial plexus injury, fractures.
Maternal
- Genital tract trauma.
- Postpartum haemorrhage.
- Operative delivery and its complications.
(j) Identify the plane of pelvis at station -4 and give its AP diameter. (2 marks)
- Station -4 corresponds approximately to the plane of pelvic inlet.
- AP diameter:
- Obstetric conjugate: about 10.5 cm.
- Anatomical or true conjugate: about 11 cm.
(k) Diagnose the condition and enumerate two causes. (2 marks)
Diagnosis: Face presentation.
Evidence: On vaginal examination, mouth, nose, chin, supraorbital ridges, malar prominences, and hard alveolar margins are felt.
Causes, any two
- Fetal factors: anencephaly, neck tumour, thyroid enlargement, congenital malformation.
- Multiparity with lax abdominal wall.
- Contracted pelvis.
- Polyhydramnios.
- Placenta previa.
- Fetal macrosomia or prematurity.
Q2. Short Answer Questions
(a) Causes of transverse lie and management. (6 marks)
Definition
Transverse lie is a lie in which the long axis of the fetus is perpendicular to the long axis of the mother. The presenting part is usually the shoulder.
Causes
Maternal causes
- Multiparity and lax uterine/abdominal muscles.
- Contracted pelvis.
- Uterine malformation, such as bicornuate uterus.
- Uterine fibroid, especially lower-segment fibroid.
- Placenta previa.
- Pelvic tumour.
Fetal and placental causes
- Prematurity.
- Polyhydramnios.
- Multiple pregnancy.
- Fetal malformation, for example hydrocephalus.
- Short cord or abnormal placental site.
Management
During pregnancy
- Confirm with ultrasound.
- Correct predisposing factors if possible.
- At 36-37 weeks, offer external cephalic version if there is no contraindication.
- If ECV fails or is contraindicated, plan elective caesarean section at term.
During labour
- Admit to hospital.
- Avoid artificial rupture of membranes when the presenting part is high because of risk of cord prolapse.
- Monitor fetal heart rate and maternal condition.
- Caesarean section is the method of delivery for a singleton live fetus in transverse lie.
- In neglected transverse lie with obstructed labour, stabilize, resuscitate, give antibiotics, arrange blood, and perform caesarean section. Destructive operation is considered only for a dead fetus in selected circumstances by an experienced obstetrician.
(b) Intraoperative complications of caesarean section. (6 marks)
Maternal complications
- Haemorrhage
- Uterine incision extension
- Uterine atony
- Placenta previa/accreta
- Broad ligament haematoma
- Injury to bladder.
- Ureteric injury.
- Bowel injury.
- Injury to uterine vessels or broad ligament vessels.
- Anaesthetic complications: hypotension, aspiration, failed intubation, drug reactions.
- Difficult fetal extraction, particularly deeply impacted head.
- Need for hysterectomy in uncontrollable haemorrhage or placenta accreta spectrum.
- Retained swab or instrument, prevented by surgical safety checks.
Fetal complications
- Fetal skin incision or laceration.
- Fracture or traumatic injury during difficult extraction.
- Asphyxia from delay in delivery.
A consent discussion should include haemorrhage, transfusion, bladder/ureter/bowel injury, anaesthetic complications, hysterectomy, infection, and fetal injury.
(c) Describe types of version. (6 marks)
Definition
Version is manipulation of the fetus to change its presentation by turning it from one pole to the other.
Types
1. External cephalic version (ECV)
- Fetus is turned to cephalic presentation by manipulations through the maternal abdomen.
- Done usually at 36-37 weeks in singleton breech or transverse lie.
- Requires ultrasound, CTG, tocolysis where appropriate, and immediate availability of caesarean section.
2. External podalic version
- Fetus is turned externally so that the breech or feet become the presenting part.
- Rarely done now.
- May be used in selected situations, such as delivery of a second twin.
3. Internal podalic version
- One hand is introduced into the uterus to grasp one or both fetal feet, while the other hand manipulates the fetus abdominally.
- The fetus is converted to breech and delivered by breech extraction.
- Main indication: selected cases of transverse lie of the second twin.
4. Combined external and internal version
- One hand acts externally and the other internally.
- Rarely used in modern practice.
(d) Describe briefly various medical and surgical methods for management of fibroid. (6 marks)
General principles
Management depends on:
- Symptoms: bleeding, pressure, pain, infertility.
- Size, number, and site of fibroids.
- Age and desire for future fertility.
- Suspicion of malignancy.
- Proximity to menopause.
A fibroid is a benign myometrial tumour, also called leiomyoma. Berek & Novak notes that management of bulk symptoms can include myomectomy, hysterectomy, uterine artery embolization, or focused ultrasound, selected according to patient factors.
Expectant management
- Appropriate for small asymptomatic fibroids, especially near menopause.
- Reassurance, periodic clinical examination, and ultrasound when indicated.
Medical treatment
Primarily controls bleeding and improves anaemia. It does not permanently eliminate fibroids.
- Iron therapy for anaemia.
- NSAIDs for dysmenorrhoea and pain.
- Tranexamic acid during menstruation for heavy bleeding.
- Combined hormonal contraceptive pills or progestogens for bleeding control.
- Levonorgestrel intrauterine system, if uterine cavity is suitable.
- GnRH agonists or antagonists:
- Reduce fibroid and uterine volume temporarily.
- Useful preoperatively, for severe anaemia, or as a bridge to menopause.
- Add-back therapy may be needed.
- Selective progesterone receptor modulators: use depends on local safety regulations because of hepatic safety concerns.
Surgical and interventional treatment
Fertility-preserving
- Myomectomy
- Hysteroscopic: submucous fibroid.
- Laparoscopic: suitable subserosal/intramural fibroids.
- Open abdominal myomectomy: large or multiple fibroids.
Definitive
- Hysterectomy
- For completed family, large symptomatic fibroids, recurrent fibroids, or failure of conservative therapy.
- Vaginal, laparoscopic, or abdominal route selected according to size and anatomy.
Uterus-sparing interventional procedures
- Uterine artery embolization.
- MRI-guided focused ultrasound in selected women.
- Radiofrequency ablation where available.
(e) Perimenopausal woman with lower abdominal pain and unhealthy-looking cervix: plan of investigation. (6 marks)
This should be treated as suspected carcinoma cervix until proved otherwise.
1. History
- Postcoital bleeding, intermenstrual bleeding, postmenopausal bleeding.
- Foul-smelling discharge, pelvic pain, urinary or rectal symptoms.
- Weight loss, appetite loss, leg swelling.
- Past screening history and treatment for CIN.
- Obstetric, sexual, medical, and family history.
2. General and systemic examination
- Pallor, cachexia, lymphadenopathy, leg oedema.
- Abdominal examination for mass, ascites, hepatomegaly, or hydronephrosis.
3. Local gynaecological examination
- Speculum examination: describe ulcer, proliferative growth, bleeding, necrosis, and discharge.
- Bimanual pelvic examination: assess cervical size, fornices, uterus, adnexa, parametria.
- Rectovaginal examination: assess parametrial, rectal, and pelvic sidewall involvement.
4. Confirm diagnosis
- Cervical cytology and high-risk HPV testing may be done if appropriate, but do not delay tissue diagnosis.
- Colposcopy.
- Directed punch biopsy from abnormal area.
- Endocervical curettage if transformation zone is not fully visible or glandular lesion is suspected.
- Cone biopsy if microinvasion is suspected or punch biopsy is inconclusive.
5. Stage and evaluate extent after biopsy confirmation
- CBC, renal function, liver function tests, urinalysis.
- Ultrasound pelvis and abdomen.
- MRI pelvis for local extent where available.
- CT chest/abdomen/pelvis or PET-CT for nodal/distant disease according to stage and resources.
- Cystoscopy/proctoscopy only when bladder or rectal involvement is clinically or radiologically suspected.
- Examination under anaesthesia if necessary.
(f) Primigravida in second stage for 3 hours, not delivered: identify condition and describe one cause. (6 marks)
Diagnosis
Prolonged second stage of labour, with possible second-stage arrest.
Traditional exam definition:
- Nullipara: second stage exceeds 2 hours, or 3 hours with regional analgesia.
- Multipara: exceeds 1 hour, or 2 hours with regional analgesia.
Current ACOG guidance defines prolonged second stage as more than
3 hours of pushing in nulliparous and more than
2 hours in multiparous women, but management must be individualized according to descent, rotation, contractions, fetal status, and maternal condition.
ACOG second-stage guideline
One cause: Cephalopelvic disproportion
Mechanism: The fetal head is too large relative to the maternal pelvis. Despite good uterine contractions and maternal bearing-down efforts, there is no descent of the head.
Findings
- High or non-descending head.
- Increasing caput and moulding.
- Slow or absent descent on serial vaginal examination.
- Possible maternal exhaustion, bladder distension, fetal distress, and features of obstruction.
Management
- Do not use oxytocin if CPD or obstruction is suspected.
- Assess pelvis, fetal position, station, caput, moulding, contractions, and fetal status.
- If head is low and no CPD, consider appropriate instrumental delivery.
- If head remains high, there is CPD, fetal distress, or arrest of descent, perform caesarean section.
Section C
Q3 (a). Obstructed Labour (15 marks)
1. Definition (2 marks)
Obstructed labour is failure of descent and delivery of the fetus due to a mechanical obstruction, despite adequate uterine contractions.
Most commonly, it results from cephalopelvic disproportion.
2. Morbid anatomical changes (3 marks)
Changes in the uterus
- Upper uterine segment becomes thick, hypertrophied, and retracted.
- Lower uterine segment becomes thin, overstretched, oedematous, and tender.
- A pathological retraction ring, Bandl’s ring, may become visible or palpable.
- Risk of uterine rupture.
Changes in cervix and vagina
- Cervix becomes oedematous, congested, and may be bruised or lacerated.
- Vagina and vulva become oedematous and congested.
- Pressure necrosis can occur, leading later to vesicovaginal fistula or rectovaginal fistula.
Changes in bladder and urinary tract
- Bladder becomes distended and displaced upward.
- Mucosal congestion, oedema, ischaemia, and haematuria may occur.
- Prolonged compression may result in urinary fistula.
Changes in fetus
- Marked caput succedaneum.
- Severe moulding.
- Fetal hypoxia, asphyxia, or death.
3. Effects on mother and fetus (5 marks)
Maternal effects
Immediate
- Maternal exhaustion, dehydration, ketosis, and electrolyte imbalance.
- Sepsis and chorioamnionitis.
- Uterine rupture with haemorrhagic shock.
- Postpartum haemorrhage due to uterine atony or genital tract trauma.
- Bladder injury, haematuria, and urinary retention.
- Cervical, vaginal, or perineal tears.
- Operative complications and anaesthetic risks.
- Maternal death in severe neglected cases.
Late
- Vesicovaginal fistula.
- Rectovaginal fistula.
- Chronic pelvic infection.
- Secondary infertility.
- Menstrual disorders.
- Psychological trauma and social morbidity.
Fetal effects
- Fetal distress, hypoxia, birth asphyxia.
- Intrauterine fetal death or stillbirth.
- Intracranial haemorrhage.
- Birth trauma, including fractures and nerve injury.
- Sepsis and neonatal death.
4. Management (5 marks)
A. Immediate management and resuscitation
- Call senior obstetrician, anaesthetist, paediatrician, and theatre team.
- Admit and assess airway, breathing, circulation, pulse, blood pressure, temperature, oxygen saturation, and urine output.
- Insert two wide-bore IV cannulae.
- Send blood for CBC, blood grouping, cross-match, renal function, electrolytes, and coagulation profile if indicated.
- Start IV fluids and correct dehydration/electrolyte abnormalities.
- Arrange blood and blood products.
- Give broad-spectrum IV antibiotics.
- Insert Foley catheter, monitor urine output, and note haematuria.
- Continuous fetal monitoring if fetus is alive.
- Do not augment labour with oxytocin when obstruction is suspected.
B. Delivery
Live fetus
- Emergency caesarean section is the usual treatment.
Dead fetus
- Caesarean section is still indicated if:
- Uterus is threatened or ruptured.
- There is severe maternal distress.
- Destructive delivery is not safe or not feasible.
- Obstruction is due to a cause not correctable by destructive operation.
- Destructive operation may be considered only in a dead fetus, fully dilated cervix, no suspicion of uterine rupture, and with an experienced obstetrician.
C. If uterine rupture is present
- Immediate laparotomy.
- Repair of uterine rupture with or without tubal ligation, or hysterectomy depending on site, extent, haemodynamic status, parity, and fertility wishes.
- Blood transfusion, antibiotics, and intensive monitoring.
D. Postoperative care
- Continue antibiotics, fluids, catheter drainage, and monitoring for sepsis, renal failure, PPH, and fistula.
- Counsel regarding cause, contraception, future delivery in a hospital, and early antenatal booking.
Q3 (b). Carcinoma Cervix: Signs, Symptoms, Diagnosis, and Stage I Management (15 marks)
1. Symptoms (4 marks)
Early disease
Often asymptomatic and detected on screening.
Common symptoms
- Postcoital bleeding.
- Intermenstrual bleeding.
- Postmenopausal bleeding.
- Persistent watery, blood-stained, or foul-smelling vaginal discharge.
- Pelvic pain or backache.
- Dyspareunia.
Advanced disease symptoms
- Urinary frequency, dysuria, haematuria, or urinary obstruction.
- Rectal symptoms: constipation, tenesmus, rectal bleeding.
- Leg oedema due to pelvic sidewall or lymphatic involvement.
- Weight loss, anorexia, weakness, anaemia.
- Fistula causing continuous leakage of urine or faeces.
2. Signs (4 marks)
General signs
- Pallor, cachexia, weight loss.
- Inguinal or supraclavicular lymphadenopathy in advanced disease.
- Lower-limb oedema.
Local signs
- Cervix may show ulcerative, proliferative, cauliflower-like, nodular, or infiltrative lesion.
- Cervix may bleed on touch.
- Foul-smelling necrotic discharge.
- On bimanual examination:
- Enlarged, hard, irregular cervix.
- Vaginal fornix involvement.
- Parametrial thickening or fixation.
- Pelvic sidewall involvement in advanced disease.
- Rectovaginal examination assesses parametrial and rectal involvement.
3. Diagnosis (3 marks)
- Speculum examination and bimanual/rectovaginal examination.
- Colposcopy with directed cervical biopsy: confirms diagnosis.
- Endocervical curettage or cone biopsy when indicated, especially if microinvasion is suspected.
- Histopathology identifies tumour type, most commonly squamous cell carcinoma.
- Staging assessment:
- CBC, renal and liver function.
- MRI pelvis for local spread.
- CT or PET-CT for nodal and distant metastasis, as available.
- Cystoscopy or proctoscopy only when bladder/rectal invasion is suspected.
4. Management in Stage I cervical carcinoma (4 marks)
FIGO Stage I
Carcinoma is confined to the cervix.
- IA1: stromal invasion up to 3 mm depth.
- IA2: invasion more than 3 mm and up to 5 mm.
- IB: invasion more than 5 mm, confined to cervix, subdivided by tumour size.
IA1 without lymphovascular space invasion
- Fertility desired: conization with clear margins.
- Family complete: simple hysterectomy.
IA1 with lymphovascular space invasion, and IA2
- Fertility-sparing option in selected patients: conization or radical trachelectomy with pelvic nodal assessment.
- Otherwise: radical hysterectomy with pelvic lymph-node assessment, or radiotherapy according to suitability.
IB1 and selected early IB2 disease
- Radical hysterectomy with bilateral pelvic lymph-node assessment is a traditional surgical option in operable women.
- Primary chemoradiation is an alternative where surgery is unsuitable or if adverse pathological factors are anticipated.
Important note
Management is individualized by tumour size, lymphovascular invasion, nodal status, surgical fitness, fertility wishes, imaging, and local oncologic expertise. Modern FIGO staging incorporates imaging and pathology findings, not clinical examination alone.
FIGO cervical staging summary
Q4 (a). Breech Presentation (15 marks)
Identification of the case
The case is breech presentation at term, most likely frank breech:
- Hard ballotable head in fundus.
- Soft irregular breech in pelvis.
- Fetal back on left side.
- Fetal heart rate heard above the umbilicus.
- Cervix closed and uneffaced, so she is not in labour.
1. Definition and types (5 marks)
Definition
Breech presentation is a longitudinal lie in which the buttocks or lower extremities present at the pelvic brim.
Types
-
Frank breech
- Hips flexed, knees extended.
- Buttocks present first.
- Commonest type.
-
Complete breech
- Hips and knees flexed.
- Buttocks and feet lie near the presenting part.
-
Footling breech
- One or both hips partly extended.
- One or both feet present first.
-
Kneeling breech
- One or both knees present first.
- Rare.
2. Etiology and clinical features (5 marks)
Etiology
Maternal
- Uterine malformations.
- Uterine fibroid, especially lower-segment fibroid.
- Contracted pelvis.
- Placenta previa.
- Multiparity with lax uterine tone.
Fetal
- Prematurity.
- Multiple pregnancy.
- Fetal anomalies, such as anencephaly, hydrocephalus, or neck masses.
- Oligohydramnios or polyhydramnios.
- Short cord.
Clinical features
Abdominal examination
- Fundal height may be less than expected.
- Hard, round, ballotable head felt in fundus.
- Soft, broad, irregular breech felt in lower pole.
- Fetal heart sounds heard above the umbilicus.
- Back is palpated on one side.
Vaginal examination in labour
- Sacrum, anus, ischial tuberosities, genitalia, or feet may be felt.
- Avoid repeated vaginal examinations, especially after rupture of membranes, because of cord prolapse and infection risk.
Ultrasound
- Confirms breech type, fetal growth, estimated fetal weight, flexion/extension of head, placental site, liquor volume, and congenital anomalies.
3. Intrapartum management (5 marks)
A. Before labour at term
- Confirm breech with ultrasound.
- Counsel regarding ECV, planned caesarean section, and selected vaginal breech birth.
- Offer ECV at 36-37 weeks if no contraindication:
- No placenta previa, significant bleeding, ruptured membranes, fetal compromise, or indication for caesarean section.
- Do with ultrasound, CTG, tocolysis where appropriate, anti-D for Rh-negative unsensitized women, and immediate access to emergency caesarean section.
B. Planned mode of delivery
- Planned caesarean section is commonly recommended for persistent singleton term breech, especially if footling breech, hyperextended head, fetal compromise, large fetus, small pelvis, or no skilled provider.
- Vaginal breech delivery may be considered only when strict selection criteria are met and an experienced obstetrician, anaesthesia, neonatal resuscitation, and immediate caesarean capability are available. ACOG term breech guidance
C. Conduct of vaginal breech delivery
- Ensure informed consent, IV access, blood availability, continuous fetal monitoring, empty bladder, and skilled team.
- Allow spontaneous delivery to umbilicus, avoiding traction.
- If legs are extended, use Pinard manoeuvre to deliver legs.
- Deliver arms by Lovset manoeuvre if they are extended/nuchal.
- Deliver after-coming head by:
- Mauriceau-Smellie-Veit manoeuvre, or
- Burns-Marshall method, or
- Piper forceps.
- Episiotomy only when indicated.
- Avoid fundal pressure and avoid traction before scapulae are visible.
Q4 (b). Primary Amenorrhoea with Absent Uterus, Absent Secondary Sexual Characters, Raised FSH/LH, and Low Estradiol (15 marks)
Important interpretation
The clinical findings are not typical of one simple isolated disorder:
- Müllerian agenesis/MRKH syndrome causes absent uterus and upper vagina, but patients usually have normal ovaries, normal breast development, normal pubic/axillary hair, and normal FSH/estradiol.
- Gonadal dysgenesis causes absent or poor breast development with high FSH/LH and low estradiol, but the uterus is usually present if there has been no anti-Müllerian hormone exposure.
- Complete androgen insensitivity syndrome gives absent uterus and sparse pubic hair, but breasts are usually well developed and estradiol is not low.
Thus, the pattern suggests hypergonadotropic hypogonadism due to gonadal dysgenesis with an associated Müllerian anomaly, or a 46,XY disorder of sex development requiring urgent genetic and gonadal evaluation.
1. Investigations (7 marks)
A. Basic evaluation
-
Detailed history:
- Age at puberty, growth pattern, chronic illness, exercise, nutrition.
- Cyclical pelvic pain.
- Family history of delayed puberty, amenorrhoea, genetic disorders.
- Drug and radiation exposure.
-
Physical examination:
- Height, weight, body proportions.
- Tanner staging of breasts and pubic/axillary hair.
- Turner stigmata: webbed neck, shield chest, cubitus valgus, short stature.
- Signs of virilization.
- External genitalia, vaginal length, and presence/absence of cervix.
B. Hormonal tests
- Serum FSH, LH, and estradiol:
- High FSH/LH with low estradiol indicates primary ovarian insufficiency or gonadal dysgenesis.
- Serum TSH and prolactin.
- Serum testosterone, DHEAS, androstenedione, and 17-hydroxyprogesterone where a DSD is possible.
- Serum AMH and inhibin B to assess gonadal tissue where available.
C. Imaging
- Pelvic ultrasound:
- Confirm presence/absence of uterus, cervix, upper vagina, gonads, and kidneys.
- MRI pelvis:
- Better delineation of Müllerian structures, vagina, gonads, and associated anomalies.
- Renal ultrasound:
- Important because Müllerian anomalies may coexist with renal anomalies.
- Echocardiography if Turner syndrome is suspected.
D. Cytogenetic and molecular evaluation
- Karyotype:
- 45,X: Turner syndrome.
- Mosaic 45,X/46,XX or 45,X/46,XY.
- 46,XX pure gonadal dysgenesis.
- 46,XY pure gonadal dysgenesis/Swyer syndrome or other DSD.
- Y-chromosome material testing, including SRY testing, if indicated.
- Genetic counselling and targeted molecular testing.
E. Additional evaluation
- Baseline bone mineral density because prolonged estrogen deficiency causes low bone mass.
- CBC, renal/liver profile, fasting glucose, lipids.
- Referral to a multidisciplinary team: gynaecologist, endocrinologist, geneticist, psychologist, and fertility specialist.
2. Etiology of primary amenorrhoea (8 marks)
Classify according to secondary sexual development and presence of uterus.
A. With normal secondary sexual characteristics
Uterus present
- Imperforate hymen.
- Transverse vaginal septum.
- Cervical agenesis or cervical stenosis.
- Other genital outflow obstruction.
Uterus absent
- Müllerian agenesis/MRKH syndrome: 46,XX; ovaries functional; breasts and pubic hair normal.
- Complete androgen insensitivity syndrome: 46,XY; testes present; breast development normal; scant or absent pubic/axillary hair.
B. With absent or poor secondary sexual characteristics
Hypergonadotropic hypogonadism: high FSH/LH, low estradiol
This is primary gonadal failure.
- Turner syndrome: 45,X.
- Mosaic Turner syndrome.
- Pure gonadal dysgenesis: 46,XX or 46,XY.
- Premature ovarian insufficiency from autoimmune disease, chemotherapy, radiotherapy, infection, or galactosaemia.
- Resistant ovary syndrome.
Hypogonadotropic hypogonadism: low/normal FSH/LH, low estradiol
This is hypothalamic-pituitary failure.
- Constitutional delay of puberty.
- Functional hypothalamic amenorrhoea: low weight, excessive exercise, stress, chronic illness.
- Kallmann syndrome.
- Pituitary tumours or panhypopituitarism.
- Hyperprolactinaemia.
- Severe hypothyroidism.
C. Mixed or rare structural/genetic conditions
- Combined Müllerian anomaly and gonadal dysgenesis.
- Complex 46,XY DSD.
- Syndromic disorders involving reproductive tract, renal, skeletal, or cardiac anomalies.
Core management principle
After defining the diagnosis:
- Provide psychological support and genetic counselling.
- Begin estrogen replacement, followed later by cyclic progestogen only if a uterus is present.
- Address bone health.
- Remove dysgenetic gonads containing Y-chromosome material because of gonadoblastoma risk.
- Discuss fertility options, including oocyte donation, donor embryo, and gestational options according to anatomy, diagnosis, and local law.
Current-evidence note
Recent systematic review evidence on ECV, including anaesthesia-assisted ECV, does not change the core exam approach: offer ECV to eligible women with persistent breech presentation in a setting where emergency caesarean delivery can be performed (PMID: 39080805).