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SHORT NOTES: Sexual Dysfunction & Infertility

Exam-Oriented Review

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PART 1: SEXUAL DYSFUNCTION

Definition & Classification

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ERECTILE DYSFUNCTION (ED) - Most Testable

Causes (Differential Diagnosis)

ED can be a harbinger of occult coronary artery disease - always consider cardiology referral.

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Investigations of Erectile Dysfunction

• IIEF (International Index of Erectile Function) - gold standard questionnaire; assesses erectile function, orgasm, desire, intercourse satisfaction
• IIEF-6 / SHIM (Sexual Health Index for Men) - abbreviated version
• ADAM questionnaire, Aging Male Survey - for hypogonadism screening

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OTHER SEXUAL DYSFUNCTION TYPES

Premature Ejaculation (PE)

• Definition (ISSM): Ejaculation in <1 minute (lifelong) or <3 minutes (acquired), with inability to delay and negative personal consequence
• Median normal IELT: 5.4 minutes (multicountry study)
• Treatment: Behavioral (squeeze/stop-start technique), SSRIs (dapoxetine), topical anesthetics

Loss of Libido

• Often due to hypogonadism, depression, medications, severe illness
• Investigate with testosterone, prolactin, gonadotropins

Female Sexual Dysfunction

• Hypoactive sexual desire disorder (HSDD) - most common in women
• Vaginismus - involuntary vaginal spasm, can be primary or secondary
• Dyspareunia - painful intercourse (consider endometriosis, atrophic vaginitis, vulvodynia)
• Investigations: hormone levels (estrogen, testosterone, FSH), gynecologic exam, psychological assessment

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PART 2: INFERTILITY

Definition

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Requirements for Pregnancy (Key Points)

1. Male must produce adequate numbers of normal, motile spermatozoa
2. Male must eject sperm through a patent ductal system
3. Sperm must traverse an unobstructed female reproductive tract
4. Female must ovulate and release an ovum
5. Sperm must fertilize the ovum
6. Fertilized ovum must implant in appropriately prepared endometrium

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Differential Diagnosis / Causes of Infertility

Male Factors (~40% of cases)

Female Factors

Specific Female Causes (Detail)

• Pelvic inflammatory disease (PID) - Chlamydia, gonorrhea
• Endometriosis (causes peritoneal adhesions, blocks tubo-ovarian motility)
• Post-peritonitis adhesions
• Congenital anomalies

• PCOS (most common cause of oligo/anovulation)
• Hypothalamic amenorrhea (weight loss, exercise, stress)
• Hyperprolactinemia (prolactinoma)
• Premature ovarian failure (FSH >40 IU/L)
• Thyroid disease, Cushing syndrome

• Intrauterine synechiae = Asherman syndrome (after D&C, endometritis)
• Leiomyomas (submucosal) and polyps
• Uterine anomalies (bicornuate, septate uterus)
• Destroyed endocervical glands (after surgery or infection)

• Hostile cervical mucus (anti-sperm antibodies, post-cone biopsy)

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Investigations of Infertility

Step-by-Step Approach

1. Semen analysis
2. Confirmation of ovulation
3. Documentation of tubal patency

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A. Male Investigations

• Azoospermia = no sperm on semen analysis
• Oligospermia = low count, Asthenospermia = low motility, Teratospermia = abnormal morphology
• Key: semen analysis represents probabilistic assessment - no single threshold absolutely discerns infertility from fertility (except azoospermia)
• Sperm vitality stain - differentiates complete asthenospermia from necrospermia
• Pyospermia vs immature germ cells - distinguished by laboratory staining

• Ejaculatory ductal obstruction
• Retrograde ejaculation
• Congenital bilateral absence of vas deferens (CBAVD)

• Primary hypogonadism: low T + high LH/FSH (testicular failure - Klinefelter, mumps orchitis)
• Secondary hypogonadism: low T + low/normal LH/FSH (hypothalamic/pituitary cause)

• Karyotype - if azoospermia/severe oligospermia (Klinefelter = 47,XXY)
• CFTR gene mutation - if CBAVD (risk of CF in offspring)
• Y-chromosome microdeletions (AZF regions) - AZFa, AZFb, AZFc deletions

• Scrotal Doppler ultrasound - varicocele (dilated pampiniform plexus >3 mm), testicular volume (normal 15-20 mL)
• Transrectal ultrasound (TRUS) - ejaculatory duct obstruction
• Post-ejaculate urinalysis - retrograde ejaculation (sperm in urine)

• Antisperm antibody test (immunobead or MAR test)
• Testicular biopsy - obstructive vs non-obstructive azoospermia
• Globozoospermia (round-headed sperm) = absent acrosome - treat with IVF/ICSI

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B. Female Investigations

• Hysteroscopy - gold standard for intrauterine pathology (polyps, fibroids, Asherman)
• MRI pelvis - Mullerian anomalies, fibroids

• Antisperm antibodies (cervical mucus/serum)
• Antinuclear antibodies (autoimmune causes)
• Antiphospholipid antibodies (recurrent pregnancy loss)

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Summary Table: Investigations at a Glance

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Differential Diagnosis Summary

Sexual Dysfunction - DDx

Infertility - DDx (Male)

Infertility - DDx (Female)

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High-Yield Exam Points

1. Infertility evaluation timing: 12 months (general), 6 months if woman ≥35 years
2. Most common cause of male infertility: Varicocele
3. Most common cause of female anovulatory infertility: PCOS
4. Most common cause of female infertility overall: Tubal/peritoneal disease (30-40%)
5. Gold standard for tubal patency: Laparoscopy with chromopertubation
6. Best ovarian reserve marker: AMH (not cycle-day dependent)
7. ED harbinger of: Occult coronary artery disease
8. NPT test: Normal = psychogenic ED; Absent = organic ED
9. CBAVD association: CFTR mutation (cystic fibrosis gene) - screen partner
10. Asherman syndrome: Post-curettage synechiae causing anovulation/infertility
11. Klinefelter syndrome (47,XXY): Most common genetic cause of male infertility/azoospermia
12. Male factor contributes to: 40% solely, up to 50% as contributing factor
13. Clomiphene citrate: First-line ovulation induction (antiestrogen, stimulates pituitary FSH/LH), start Day 3-5, 50 mg x 5 days

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MALE & FEMALE INFERTILITY

Exam-Oriented Short Notes

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DEFINITIONS

• Infertility: Failure to achieve clinical pregnancy after 12 months of regular unprotected intercourse (WHO)
• Subfertility: Reduced capacity to conceive (used interchangeably)
• Primary infertility: No previous pregnancy ever
• Secondary infertility: Infertility after at least one prior pregnancy (not necessarily live birth)
• Evaluate at 6 months if female partner ≥35 years
• ~90% of couples should conceive within 12 months of unprotected intercourse

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PART 1: MALE INFERTILITY

Causes (with Incidence)

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INVESTIGATIONS OF MALE INFERTILITY

Step 1 — Semen Analysis (Cornerstone)

WHO 2010 Reference Values (5th centile)

Semen Terminology

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Interpretation of Semen Analysis

KEY RULE: Normal FSH + normal testis size = 96% probability of obstructive azoospermia. Elevated FSH + small testes = non-obstructive azoospermia (testicular failure).

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Step 2 — Male Hormonal Assessment

Hormonal Pattern Recognition

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Step 3 — Genetic Investigations

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Step 4 — Imaging (Male)

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DIFFERENTIAL DIAGNOSIS — MALE INFERTILITY

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PART 2: FEMALE INFERTILITY

Causes (with Incidence)

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INVESTIGATIONS OF FEMALE INFERTILITY

A. Ovulation Assessment

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B. Ovarian Reserve Testing

Ovarian reserve = pool of primordial follicles. Declines with age; sharply after 35. Poor reserve = low chance of conception and poor response to ovarian stimulation.

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C. Tubal Patency Assessment

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D. Uterine Cavity Investigations

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E. Female Hormonal Profile

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DIFFERENTIAL DIAGNOSIS — FEMALE INFERTILITY

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PART 3: STEPWISE INVESTIGATION ALGORITHM

Step 1 — Basic (All Couples)

1. Semen analysis (×2 if abnormal, 6–12 weeks apart)
2. Confirm ovulation: Mid-luteal progesterone (Day 21) ≥30 nmol/L
3. Tubal patency: HSG or sonohysterography
4. Ovarian reserve: Day 2–3 FSH + AMH (or AFC)

Step 2 — Hormonal (if Step 1 abnormal or anovulatory)

1. TSH, prolactin (both partners)
2. LH, FSH, estradiol (Day 2–3) — PCOS, hypothalamic amenorrhea, POI
3. Free testosterone, DHEAS, 17-OHP — hyperandrogenism, CAH
4. Testosterone, LH, FSH in male — if oligospermia/azoospermia confirmed

Step 3 — Specialised (if Steps 1–2 inconclusive)

1. Karyotype + Y-microdeletion (azoospermia/severe oligospermia)
2. CFTR mutation testing (CBAVD)
3. Laparoscopy + chromopertubation (unexplained infertility, suspected endometriosis)
4. Hysteroscopy (uterine cavity abnormality on HSG/SIS)
5. Testicular biopsy (azoospermia — OA vs NOA)
6. Sperm DNA fragmentation (recurrent IVF failure)
7. Antiphospholipid antibodies (recurrent pregnancy loss)

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Master Investigation Summary

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PART 4: HIGH-YIELD EXAM POINTS

1. Infertility definition: 12 months (WHO); 6 months if female ≥35 years
2. Most common male cause: Varicocele (15–37%) — most common treatable cause
3. Most common female cause overall: Tubal/peritoneal disease (30–40%)
4. Most common anovulatory cause in females: PCOS (70–80% of anovulatory infertility)
5. Cornerstone of male investigation: Semen analysis — must be done twice if abnormal
6. Best single ovarian reserve marker: AMH — not cycle-day dependent; most reliable
7. Gold standard tubal patency: Laparoscopy with chromopertubation. HSG = first-line test
8. Gold standard intrauterine pathology: Hysteroscopy
9. FSH + testis size in azoospermia: Normal FSH + normal testes = 96% obstructive; Elevated FSH + small testes = non-obstructive
10. AZF microdeletion rule: AZFa/b deletion = TESE futile (no sperm retrievable). AZFc deletion = sperm may be retrieved by TESE
11. CBAVD genetic risk: CFTR mutation — screen partner; 25% risk of CF in offspring if both carry severe mutation
12. Klinefelter syndrome (47,XXY): Most common genetic cause of male infertility/azoospermia. Small firm testes, gynaecomastia, elevated FSH/LH, low T
13. Asherman syndrome: Post-curettage intrauterine synechiae → secondary amenorrhea/infertility. Gold standard diagnosis = hysteroscopy
14. Clomiphene citrate: First-line ovulation induction; anti-estrogen; 50 mg Days 3–7; DO NOT use in ovarian failure; monitor with TVS + progesterone
15. Endometriosis: Gold standard diagnosis = laparoscopy + biopsy. CA-125 is unreliable. Even minimal disease may reduce fecundity
16. Progesterone Day 21: >30 nmol/L = ovulated; 16–30 = borderline; <16 = anovulatory
17. Retrograde ejaculation: Low volume + sperm in post-ejaculate urine (>10/hpf after centrifugation)
18. Unexplained infertility: 10–20%; treat with superovulation + IUI, or IVF after 2 years

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