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Quick Reference Index

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• For LQA (Long Questions): Write definition, classification, causes, features, investigations, management with subheadings - use the full answer above
• For SQA (Short Questions): Cover definition + classification + 4-5 causes/features + management in brief
• For MCQ: Focus on: PALM-COEIN, Tanner stages, 45,X karyotype, Mackenrodt's ligament, PGF2α in dysmenorrhoea, progesterone - secretory endometrium, decubitus ulcer in procidentia

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OBSTETRICS & GYNAECOLOGY — SAQ FORMAT

Q.215 to Q.246

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Q.215 - Clinical Features of Uterine Anomalies

• Class I: Hypoplasia/Agenesis (MRKH syndrome)
• Class II: Unicornuate
• Class III: Didelphys (double uterus + double cervix)
• Class IV: Bicornuate
• Class V: Septate (most common)
• Class VI: Arcuate
• Class VII: DES-related (T-shaped)

1. Primary amenorrhoea (agenesis - MRKH)
2. Recurrent pregnancy loss (RPL) - septate uterus is #1 cause
3. Preterm labour
4. Malpresentations (breech, transverse lie)
5. Dysmenorrhoea (obstructed hemi-uterus)
6. Infertility
7. Cryptomenorrhoea (outflow obstruction)
8. Dyspareunia (vaginal septal defects)
9. Associated renal anomalies (horseshoe/absent kidney - always check!)

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Q.216 - Functions of Ovarian Hormones

A) Oestrogen (E2 - Estradiol)

B) Progesterone

C) Androgens

• Pubic and axillary hair (adrenarche)
• Precursors for estrogen synthesis
• Libido

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Q.217 - HPO Axis (Hypothalamic-Pituitary-Ovarian Axis)

Components:

• Secretes GnRH (= LHRH) in pulsatile fashion (every 60-90 min)
• Pulsatile release essential; continuous → downregulation
• Stimulated by: Kisspeptin
• Inhibited by: Dopamine, opioids, prolactin

• GnRH → releases FSH + LH (glycoproteins; common alpha subunit, specific beta)

• FSH → follicular growth + estrogen production
• LH → androgen production; triggers ovulation; maintains corpus luteum

Feedback Mechanisms:

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Q.218 - Menstruation: Phases, Hormonal, Ovarian, Uterine Changes

Phases:

Hormonal Changes:

• Follicular: FSH rises → recruits follicles → estrogen rises → LH surge (day 13-14) → ovulation (36-38 hrs after LH peak)
• Luteal: Corpus luteum → progesterone + estrogen; if no pregnancy → corpus luteum degenerates → P falls → menstruation

Ovarian Changes:

1. Days 1-5: Follicle atresia
2. Days 5-14: Dominant Graafian follicle (20-25 mm) selected
3. Day 14: Ovulation (secondary oocyte in metaphase II released)
4. Days 15-25: Corpus luteum secretes progesterone + estrogen + inhibin A
5. Days 26-28: Corpus albicans (if no pregnancy)

Uterine (Endometrial) Changes:

1. Menstrual: Functional layer shed; spiral arteries constrict → ischaemia; PGs mediate shedding
2. Proliferative: Estrogen → regeneration; straight glands; pseudostratified epithelium
3. Secretory: Progesterone → tortuous glands; subnuclear vacuoles; secretions in lumen; spiral arteries elongate
4. Ischaemic: Progesterone withdrawal → coiling of spiral arteries → ischaemia

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Q.219 - Tanner's Classification (Sexual Maturity Rating)

Breast Development (B):

Pubic Hair (PH):

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Q.220 - Precocious Puberty: Causes and Diagnostic Features

Causes:

• Idiopathic (80% in girls - most common)
• CNS tumours (hypothalamic hamartoma, glioma)
• CNS insults: hydrocephalus, irradiation, NF-1

• McCune-Albright syndrome (GNAS1 mutation): precocious puberty + polyostotic fibrous dysplasia + cafe-au-lait spots
• Granulosa cell tumour (ovarian)
• Adrenal tumours / CAH
• Hypothyroidism (Van Wyk-Grumbach)
• Exogenous estrogen/androgen

Diagnostic Features:

1. Growth acceleration + early epiphyseal fusion → short final height
2. Bone age X-ray (wrist) - advanced
3. Hormonal: LH, FSH, estradiol; LH > 5 IU/L on GnRH stimulation test = central; LH:FSH ratio > 1 = central
4. Pelvic USS - ovarian cyst/tumour
5. MRI brain - hypothalamic/pituitary lesion
6. TSH - rule out hypothyroidism

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Q.221 - Delayed Puberty: Causes and Characteristic Features

Causes:

• Normal variant; positive family history

• Kallmann syndrome: GnRH deficiency + anosmia
• Craniopharyngioma / hypothalamic tumours
• Anorexia nervosa, malnutrition, excessive exercise
• Hypothyroidism, hyperprolactinaemia

• Turner syndrome (45,X) - most common cause in girls
• Premature ovarian insufficiency (POI)
• Chemotherapy/radiation damage

Characteristic Features:

1. Short stature
2. Absent/minimal breast development
3. Sparse pubic/axillary hair
4. Primary amenorrhoea
5. Infantile genitalia
6. Webbed neck, shield chest (Turner's)
7. Anosmia (Kallmann's)
8. Delayed bone age on X-ray

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Q.222 - Puberty Menorrhagia: Causes and Diagnostic Features

Causes:

1. Anovulatory cycles - most common; immature HPO axis; no progesterone → unopposed estrogen → irregular heavy shedding
2. Von Willebrand disease - 15-20% of adolescent heavy bleeding
3. ITP, platelet dysfunction, coagulopathy
4. Hypothyroidism
5. Hyperprolactinaemia
6. PCOS
7. Structural: Endometrial polyp, fibroid (rare)

Diagnostic Features:

1. PBAC score (Pictorial Blood Assessment Chart) > 100 = heavy
2. CBC - anaemia (low Hb, MCV)
3. Coagulation: PT, aPTT, platelet count
4. vWF assay, Ristocetin cofactor - rule out vWD
5. Hormonal: TSH, prolactin, FSH, LH
6. Pelvic USS - structural causes

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Q.223 - Amenorrhoea

• Primary: No menstruation by age 15 (with normal 2° sex chars) or by 13 (without)
• Secondary: No menstruation for ≥3 months (regular cycle) or ≥6 months (irregular)

Classification of Primary Amenorrhoea:

Causes of Secondary Amenorrhoea:

1. Pregnancy - EXCLUDE FIRST (urine hCG)
2. PCOS - most common
3. Hypothalamic: Stress, weight loss, exercise, anorexia
4. Pituitary: Hyperprolactinaemia (most common pituitary cause), Sheehan's syndrome
5. Ovarian: Premature ovarian insufficiency (POI)
6. Uterine: Asherman's syndrome (post-D&C adhesions)
7. Thyroid/Adrenal: Hypothyroidism, Cushing's, CAH

Investigations:

• Urine hCG, FSH, LH, prolactin, estradiol, TSH
• Karyotype (primary)
• Pelvic USS
• MRI pituitary (high prolactin)
• Progesterone withdrawal test (tests outflow patency)

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Q.224a - Cryptomenorrhoea: Causes

Causes (Anatomical Obstruction):

1. Imperforate hymen - most common; bluish-purple bulging membrane at introitus → haematocolpos
2. Transverse vaginal septum - at upper 1/3-lower 2/3 junction
3. Cervical stenosis - post-surgical/inflammatory
4. Vaginal atresia
5. Cervical atresia - rare

Consequences:

• Haematocolpos (blood in vagina)
• Haematometra (blood in uterus)
• Haematosalpinx (blood in tube)
• Haematoperitoneum

Features: Primary amenorrhoea + cyclical pelvic pain + lower abdominal mass

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Q.224b - Hypomenorrhoea: Causes

Causes:

1. Asherman's syndrome (intrauterine adhesions) - post-D&C, most common
2. Cervical stenosis
3. Hypoestrogenism (POI, hypothalamic amenorrhoea)
4. Hypothyroidism / hyperthyroidism
5. OCP use (suppresses endometrial proliferation)
6. Progestogen-only pill / Mirena IUS
7. Endometrial tuberculosis
8. Anxiety/stress

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Q.225 - Oligomenorrhoea: Causes

Causes:

1. PCOS - most common; hyperandrogenism, anovulation
2. Hypothyroidism
3. Hyperprolactinaemia - suppresses GnRH pulsatility
4. Hypothalamic dysfunction - stress, exercise, weight loss
5. Perimenopause - declining ovarian reserve
6. Cushing's syndrome
7. CAH, androgen-secreting tumours

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Q.226 - Polymenorrhoea: Causes

Causes:

1. Short luteal phase - corpus luteum insufficiency; early progesterone withdrawal
2. Short follicular phase - accelerated follicular development (perimenopause)
3. Hyperthyroidism
4. Anovulation
5. PID - inflammation shortens cycle
6. Copper IUCD
7. Endometriosis

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Q.227 - Metrorrhagia: Causes

Causes:

1. Cervical ectropion - most common
2. Cervical polyp / carcinoma
3. Endometrial polyp / hyperplasia / carcinoma
4. Submucous fibroid
5. Breakthrough bleeding on OCP
6. Anovulation / progesterone deficiency
7. PID / Endometritis
8. Ovulation bleeding (Mittelschmerz)
9. Thyroid dysfunction
10. Coagulation disorders
11. Copper IUCD

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Q.228 - AUB (Abnormal Uterine Bleeding)

PALM-COEIN Classification (FIGO):

• P = Polyp
• A = Adenomyosis
• L = Leiomyoma (fibroid)
• M = Malignancy / Hyperplasia

• C = Coagulopathy (vWD, ITP)
• O = Ovulatory dysfunction (most common - anovulation)
• E = Endometrial disorder
• I = Iatrogenic (OCP, anticoagulants, antipsychotics)
• N = Not yet classified

Investigations:

1. CBC (anaemia), Coagulation profile
2. TSH, prolactin, FSH, LH, testosterone
3. Pelvic USS (first-line imaging)
4. Saline infusion sonography (intracavitary lesions)
5. Endometrial biopsy (> 35 yrs or risk factors)
6. Hysteroscopy (gold standard for intracavitary lesions)

General Management:

• Tranexamic acid - reduces loss 40-50% (antifibrinolytic)
• NSAIDs (mefenamic acid) - reduces loss 20-30%
• Combined OCP - cycle regulation
• Progestins - anovulatory AUB
• Levonorgestrel IUS (Mirena) - most effective medical; reduces loss 90%
• GnRH agonists - for fibroids/preop

• Endometrial ablation (no future fertility)
• Hysteroscopic polypectomy / myomectomy
• Hysterectomy - definitive

Homoeopathic Remedies:

• Phosphorus - bright red profuse bleeding
• Sabina - mixed bright + dark blood; fibroid
• Thlaspi bursa-pastoris - menorrhagia + cramping
• Trillium pendulum - profuse flooding
• China - weakness from blood loss; dark clots
• Ipecac - bright red bleeding with nausea

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Q.229 - Metropathia Haemorrhagica: Causes

Causes of Underlying Anovulation:

1. PCOS - most common in reproductive age
2. Perimenopause - anovulatory cycles
3. Hypothalamic dysfunction - stress, weight loss
4. Hypothyroidism
5. Hyperprolactinaemia
6. Obesity - excess peripheral estrogen (adipose aromatisation)

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Q.230 - Dysmenorrhoea

Primary Dysmenorrhoea:

• No underlying pelvic pathology
• Cause: Excess PGF2α → uterine hypercontractility → ischaemia → pain
• Onset: 6-12 months after menarche; young women 15-25 yrs
• Pain: Crampy, lower abdomen + back; starts 1-2 hrs before flow; lasts 1-2 days
• Associated: Nausea, diarrhoea, headache

Secondary Dysmenorrhoea:

• Underlying pelvic pathology
• Causes: Endometriosis (most common), adenomyosis, submucous fibroid, PID, copper IUCD, cervical stenosis
• Pain: Starts 1-2 weeks before period; persists after; deep dyspareunia; worsens with age

Management of Primary:

1. NSAIDs (ibuprofen, mefenamic acid) - first line; inhibit PG synthesis
2. Combined OCP - suppresses ovulation
3. Heat application; exercise

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Q.231 - Mittelschmerz Syndrome: Causes

Causes/Mechanism:

1. Follicular distension - rapidly expanding Graafian follicle stretches ovarian capsule
2. Peritoneal irritation - release of follicular fluid + blood at ovulation irritates peritoneum
3. Prostaglandins - from follicular fluid → smooth muscle contraction
4. Tubal peristalsis - increased fallopian tube motility at ovulation

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Q.232 - Homoeopathic Remedies for Membranous Dysmenorrhoea

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Q.233 - PMS (Premenstrual Syndrome)

Causes:

1. Progesterone sensitivity in luteal phase
2. Serotonin deficiency (falling estrogen reduces serotonin)
3. Aldosterone excess → fluid retention
4. Endorphin withdrawal
5. Vitamin B6 deficiency (cofactor for serotonin synthesis)
6. GABA-A receptor sensitivity to allopregnanolone

Clinical Features (Day 14-28; resolve with period):

• Breast tenderness (mastalgia)
• Abdominal bloating, weight gain
• Headache/migraine
• Fatigue, oedema
• Acne, carbohydrate craving

• Irritability, anger
• Anxiety, depression, mood swings
• Insomnia, poor concentration

General Management:

1. Aerobic exercise; low salt, low caffeine diet
2. NSAIDs (for pain)
3. SSRIs (fluoxetine/sertraline) - most effective; can be given only in luteal phase
4. Vitamin B6 50-100 mg/day
5. Calcium carbonate 1000-1200 mg/day
6. Combined OCP (suppresses ovulation)
7. GnRH agonists (severe cases)
8. Spironolactone (for bloating/fluid retention)
9. Cognitive Behavioural Therapy (CBT)

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Q.234 - Menopause: Pathophysiology, Anatomical Changes, C/F, Menopausal Syndrome, Metabolic Changes

Pathophysiology:

1. Ageing → depletes ovarian follicular reserve
2. Fewer follicles → less inhibin B → FSH rises (earliest hormonal change)
3. Less estradiol produced → LH also rises (loss of negative feedback)
4. FSH > 40 IU/L + 12 months amenorrhoea = menopause
5. Residual estrogen from peripheral aromatisation → estrone (E1) becomes dominant

Anatomical Changes:

1. Ovaries: Atrophy; fibrous; no follicles
2. Uterus: Shrinks; endometrium atrophies
3. Vagina: Thin, pale, dry; rugae disappear
4. Vulva: Labia minora shrinkage
5. Breast: Glandular → fatty tissue
6. Pubic hair: Sparse
7. Urethra: Atrophy; urge incontinence

Clinical Features / Menopausal Syndrome:

• Hot flushes (sudden warmth; face/neck/chest; 1-5 min)
• Night sweats
• Palpitations

• Mood swings, irritability
• Anxiety, depression
• Insomnia, fatigue
• Memory/concentration difficulty

• Vaginal dryness, dyspareunia, pruritus
• Urinary frequency, urgency, recurrent UTIs
• Stress/urge incontinence

• Decreased libido, anorgasmia

Metabolic Changes:

1. Bone: Rapid loss (3-5%/year first 5 yrs); osteoporosis → hip, vertebral, Colles' fractures
2. CVS: ↑LDL, ↓HDL → atherosclerosis
3. Lipids: ↑Total cholesterol, LDL, triglycerides
4. Weight: Central obesity; insulin resistance → metabolic syndrome
5. Skin: ↓Collagen → wrinkles
6. Cognitive: ↑Risk of Alzheimer's

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Q.235 - Perimenopause and Artificial Menopause

Perimenopause (Climacteric):

• Transitional period 2-8 years before and just after menopause
• Cycles become irregular; FSH rises; estrogen fluctuates
• Vasomotor symptoms begin
• Ends 12 months after last menstrual period

Artificial Menopause:

1. Surgical: Bilateral oophorectomy - most common; called "surgical menopause"
2. Radiation: Pelvic radiotherapy
3. Chemotherapy: Alkylating agents, cyclophosphamide
4. GnRH agonists - reversible medical menopause

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Q.236 - Causes of Delayed and Premature Menopause

Delayed Menopause (after age 55):

• Nulliparity
• Obesity (peripheral estrogen production)
• Genetics / family history
• High prolonged estrogen exposure

Premature Menopause / Premature Ovarian Insufficiency (POI):

1. Chromosomal: Turner syndrome (45,X), Fragile X premutation (FMR1)
2. Autoimmune - most common acquired cause; associated with Hashimoto's, Addison's, DM Type 1
3. Iatrogenic: Radiotherapy, chemotherapy, bilateral oophorectomy
4. Genetic: BRCA mutations
5. Viral: Mumps oophoritis
6. Idiopathic (majority)

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Q.237 - Post-Menopausal Bleeding: Causes, Investigations, D/D, Homoeopathic Remedies

Causes (frequency order):

1. Atrophic vaginitis/endometritis - most common (~30%)
2. Endometrial carcinoma - most important to exclude
3. Endometrial polyp
4. Endometrial hyperplasia (pre-malignant)
5. Cervical carcinoma / polyp
6. HRT breakthrough bleeding
7. Ovarian tumour (granulosa cell - estrogen-secreting)
8. Vaginal trauma / ulcer
9. Coagulation disorders
10. Vulval carcinoma

Investigations:

1. Transvaginal USS - first line; endometrial thickness > 4-5 mm suspicious
2. Endometrial biopsy (Pipelle) - mandatory; rules out malignancy
3. Hysteroscopy + D&C - gold standard; direct visualisation + biopsy
4. Pap smear - cervical cause
5. CBC, coagulation profile
6. Serum CA-125 (ovarian tumour suspected)

D/D:

Homoeopathic Remedies:

• Phosphorus - bright red profuse bleeding; thin, tall woman
• China - weakness from blood loss; dark clots
• Crocus sativus - dark, stringy, thread-like clotted blood
• Trillium pendulum - profuse flooding; hip bones sensation
• Fraxinus Americana - fibroid-related post-menopausal bleeding

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Q.238 - Uterine Prolapse: Causes, Classification, Degrees, C/F, D/D, Complications, General Management

Causes:

1. Difficult/prolonged labour (injury to levator ani)
2. Grand multiparity / multiple pregnancies
3. Chronic raised intra-abdominal pressure (chronic cough, constipation, obesity)
4. Menopause - estrogen deficiency → loss of collagen
5. Congenital weak supports (nulliparous prolapse - rare)
6. Sacral nerve injury

Degrees:

Clinical Features:

1. Dragging/bearing down sensation - "something coming down"
2. Visible lump at vulva (3rd degree)
3. Backache (worse with prolonged standing)
4. Urinary: frequency, urgency, retention, stress incontinence
5. Bowel: constipation, incomplete evacuation (with rectocele)
6. Dyspareunia
7. Decubitus ulcer on cervix (chronic)
8. Cervical hypertrophy + elongation

Differential Diagnosis:

• Cervical elongation (body not descended)
• Cervical fibroid polyp
• Vaginal cyst
• Cystocele/rectocele alone

Complications:

1. Decubitus ulcer → infection, bleeding
2. Urinary tract infection; hydronephrosis
3. Uterine hypertrophy
4. Oedema/incarceration of prolapse

General Management:

• Pelvic floor exercises (Kegel's) - 1st degree / mild
• Ring pessary - elderly, unfit for surgery, pregnant
• Topical estrogen cream (post-menopausal)
• Treat precipitating causes

• Manchester/Fothergill operation - amputation of cervix + repair; retains uterus
• Anterior colporrhaphy - cystocele repair
• Posterior colporrhaphy + perineorrhaphy - rectocele repair
• Vaginal hysterectomy + pelvic floor repair - definitive; 3rd degree/procidentia
• Sacrocolpopexy - vault prolapse

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Q.239 - Rectocele and Cystocele (Degrees)

Cystocele:

• Grade I: Bulge stays within vagina
• Grade II: Bulge reaches introitus
• Grade III: Protrudes beyond introitus

Rectocele:

• Grade I: Stays in vagina
• Grade II: Reaches introitus
• Grade III: Protrudes beyond introitus

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Q.240 - Procidentia

• Large mass hanging from vulva
• Decubitus ulceration on cervix
• Urinary retention (urethral kinking)
• Constipation
• Oedema of prolapsed tissue
• Hypertrophy + elongation of cervix

• Temporary: Reduction + ring pessary
• Definitive: Vaginal hysterectomy + anterior + posterior colporrhaphy

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Q.241 - Pessary Treatment: Indications and Contraindications

Types of Pessary:

Indications:

1. Elderly unfit for surgery
2. Awaiting surgery (temporary measure)
3. Patient desiring more pregnancies
4. Prolapse during pregnancy
5. Severe medical illness (contraindication to surgery)
6. Patient refusal of surgery
7. 1st-2nd degree in young women

Contraindications:

1. Acute PID / pelvic infection
2. Severe ulceration of prolapsed tissue
3. Very tight/small vaginal introitus
4. Allergy to pessary material
5. Poor patient compliance (unable to maintain hygiene)

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Q.242 - Surgical Management of Genital Prolapse

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Q.243 - Retroversion of Uterus: Causes, Types, C/F, Degrees, D/D, Homoeopathic Remedies

Degrees:

1. 1st degree: Fundus points directly upward (vertical)
2. 2nd degree: Fundus in posterior pouch of Douglas
3. 3rd degree: Fundus in rectouterine pouch; cervix points anteriorly

Types:

1. Mobile (congenital) - idiopathic; freely movable; no pathology; most common (80%)
2. Fixed (acquired/pathological) - uterus fixed by adhesions

Causes of Fixed Retroversion:

1. Endometriosis - most common; adhesions in pouch of Douglas
2. PID / Chronic salpingo-oophoritis - adhesions
3. Posterior fibroids
4. Ovarian cysts behind uterus
5. Previous pelvic surgery
6. Pelvic tuberculosis

Clinical Features:

• Usually asymptomatic (mobile type)
• Dysmenorrhoea - dragging backache during menses
• Deep dyspareunia (especially fixed type)
• Chronic backache (lumbar)
• Infertility (if associated endometriosis)
• Per vaginum: Fundus in posterior fornix; cervix points anteriorly

Differential Diagnosis:

• Ovarian cyst in pouch of Douglas
• Retroverted gravid uterus
• Posterior fibroid
• Pelvic abscess

Homoeopathic Remedies:

• Lilium tigrinum - bearing down in retroversion; relieved by supporting perineum; irritable, hurried
• Sepia - bearing down; indifferent; backache; better by exercise
• Aletris farinosa - weakness, prolapse tendency, anaemia
• Fraxinus Americana - fibroid-related retroversion with bearing down

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Q.244 - Inversion of Uterus: Etiology, Types, Clinical Features

Etiology:

1. Mismanagement of 3rd stage of labour - most common; undue cord traction on uncontracted uterus
2. Fundal pressure incorrectly applied (Credé's manoeuvre)
3. Fundal placenta with short umbilical cord
4. Uterine atony + adherent placenta
5. Submucous fundal fibroid (chronic non-puerperal inversion)

Types:

Clinical Features:

1. Sudden severe lower abdominal pain
2. Profound shock (neurogenic - peritoneal stretching) disproportionate to blood loss
3. Severe haemorrhage from placental site
4. No uterine fundus palpable abdominally (dimple instead)
5. Dark red granular mass at/beyond introitus (complete)
6. Placenta may still be attached
7. Bradycardia (vasovagal)

Management:

1. IV access; fluids; blood transfusion
2. O'Sullivan's hydrostatic method - warm saline into vagina; hydrostatic pressure reduces inversion
3. Johnson's manoeuvre - manual reduction under anaesthesia (palm-first method)
4. Surgical: Huntington's procedure (abdominal traction); Haultain's operation (incises cervical ring)

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Q.245 - Turner Syndrome

Karyotype:

• 45,X - 57% (classic)
• Mosaic 45,X/46,XX - 29% (milder)
• Structural X abnormalities - 14% (isochromosome Xq, ring X, deletions)
• Incidence: 1 in 2,500 phenotypic female births
• Most common single chromosomal disorder in humans (most abort spontaneously)

Clinical Features:

• Short stature (most consistent; SHOX gene loss on Xp22)
• Final height ~143 cm without treatment

• Webbed neck (pterygium colli)
• Low posterior hairline
• Shield-shaped broad chest; widely spaced nipples
• Small mandible; high arched palate

• Cubitus valgus (increased carrying angle)
• Short 4th metacarpal
• Lymphoedema of hands + feet (at birth)
• Nail hypoplasia

• Bicuspid aortic valve (30-50%) - most common
• Coarctation of aorta
• Risk of aortic dissection (especially in pregnancy)

• Horseshoe kidney (most common renal anomaly)
• Duplicated collecting system

• Primary amenorrhoea (90%)
• Streak gonads (fibrous; no follicles)
• Infantile genitalia; absent pubic/axillary hair
• Infertility (most cases)

• Autoimmune thyroid disease (Hashimoto's) - 50%
• Diabetes mellitus Type 2
• Osteoporosis

• Normal IQ; but visual-spatial difficulties ("space-form blindness")

• Multiple pigmented naevi; keloid tendency

Investigations:

1. Karyotype - diagnostic; check for Y chromosome (gonadoblastoma risk)
2. FSH, LH - very high (hypergonadotropic hypogonadism)
3. Estradiol - very low
4. TFTs (annual)
5. Echocardiogram
6. Renal USS
7. Bone age, DEXA scan

Management:

1. Growth Hormone therapy - early initiation improves final height
2. Estrogen replacement - at 12-13 yrs for puberty induction; then combined HRT
3. Cardiac surveillance - echo every 1-2 yrs; avoid pregnancy (aortic dissection risk)
4. Annual TFTs
5. Prophylactic gonadectomy if Y chromosome material found (prevents gonadoblastoma → dysgerminoma)
6. Psychological support; egg donation for fertility

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Q.246 - True Hermaphrodites and Types

Karyotype:

• 46,XX - most common (60%)
• 46,XY - 10%
• Mosaic 46,XX/46,XY (chimera) - 30%

Gonads:

• Ovotestis - most common (combined ovarian + testicular tissue in one gonad)
• One ovary + one testis
• Bilateral ovotestes

Types (by gonadal arrangement):

Clinical Features:

• Ambiguous external genitalia (most common presentation)
• Predominantly female appearance + variable virilisation
• Uterus usually present (if 46,XX)
• Hypospadias, bifid scrotum, cryptorchidism
• Inguinal hernia (may contain gonadal tissue)
• Often raised as female

Investigations:

1. Karyotype
2. Hormonal profile: testosterone, AMH, estrogen, LH, FSH
3. Pelvic USS/MRI - internal organ mapping
4. Gonadal biopsy - definitive; both ovarian follicles AND seminiferous tubules on histology

Management:

1. Multidisciplinary team (MDT) - gender assignment
2. Remove discordant gonadal tissue (malignancy risk in Y-containing gonads)
3. Appropriate hormonal therapy
4. Reconstructive surgery of genitalia
5. Psychological support
6. Fertility preservation (if possible)

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EXAM TIPS - How to Score Maximum in SAQs

• Most important uterine support = Cardinal (Mackenrodt's) ligament
• Primary dysmenorrhoea mechanism = excess PGF2α
• Most common cause of AUB = Anovulatory dysfunction (O in COEIN)
• Most common karyotype in Turner = 45,X
• Most consistent feature of Turner = Short stature
• PMB rule = Endometrial carcinoma until proven otherwise
• Procidentia = 3rd degree prolapse + inverted vagina
• Ovotestis = most common gonad in True hermaphrodites
• Most common cause of fixed retroversion = Endometriosis
• Perimenopause hormone: FSH rises first