1. Investigations to evaluate Infertility
Dr Atin Singhai
Assistant Professor
Department of Pathology
KGMU, Lucknow

2. Background Definition: 10-15% couples affected Etiology
1 yr unprotected coitus without conception
10-15% couples affected
Etiology
Couples:
35% Tubal and pelvic pathology
35 % Male problems
15% Ovulatory dysfunction
10% Unexplained
5% unusual causes

3. Background Etiology Normal couple: Fertility decreases with age Women:
40% Tubal and pelvic pathology
40% Ovulatory dysfunction
10% Unexplained Infertility
10% Unusual causes
Normal couple:
25-30% chance of pregnancy per ovulatory cycle
Fertility decreases with age

4. Infertility
Time of Exposure % Pregnant 3 months 60% 6 months 70% 1 year 85% 18 months 90%

5. Approach to Infertility
DDX
Tests/Inv Dx Rx

6. Approach to Infertility
Production
Storage
Delivery

7. Male Infertility
1. Production:
Hypothalamus
Anterior Pituitary
Testes

8. Hypothalamic-Pituitary-Gonadal Axis

9. Male Infertility 1. Production Hypothalamus
Congenital abnormalities of hypothalamus
e.g. Kallman’s syndrome
Starvation, stress or severe illness
Tumors (craniopharyngioma, metastatic tumor)
Head injury
Inflammation (sarcoidosis)
Infection (tuberculosis)
Drugs: marijuana

10. Male Infertility 1. Production: Pituitary
Endocrine: thyroid, prolactin
Tumors
Inflammation: sarcoidosis, meningitis
Infiltration
Infarction
Trauma/XRT
Drugs: anabolic steroids

11. Male Infertility Production: Testes:
Congenital: Klinefelters (XYY), developmental disorders
Disorders of gonadal steroidgenesis
Infection: chlamydia, prostatitis, mumps orchitis
Autoimmune
Cryptorchidism
Tumors; chemo/XRT
Drugs / alcohol
Vascular: testicular torsion

12. Male Infertility 2. Storage: Temperature Rise in scrotal temperature
Occupation
Varicocoele

13. Male Infertility 3. Delivery: Impotence/Ejaculation
Neurogenic: medications (α-blockers, methyldopa)
Endocrine: diabetes
Congenital: absence vas deferens (CF)
Genetic: cystic fibrosis
Primary ciliary dyskinesia: Kartagener syndrome
Hypospadia
Vasectomy

14. Male Infertility History: Previous children
Infections: prostatitis, STD, mumps orchitis
Trauma to head or testicles
Surgery to testicles or hernia
Occupation (sitting, bio hazards)
Chemo or Radio therapy
Ethanol or Smoking
Medication
Medical history (DM, HTN)
Previous investigations

15. Male Infertility Physical Anatomy (meatus) Testicular size
Varicocele (valsalva)
Rectal exam (protatitis, discharge)

16. Male Infertility Investigations: semen analysis If abnormal:
Abstain 2-4 days prior
At least 2 samples over different period of time
If abnormal:
Blood work: FSH, LH, TSH, testosterone, PRL
Testicular U/S
Chromosomal analysis

17. Male Infertility Semen analysis: WHO (1992) Volume > 2.0 mL
Sperm > 20 million/mL
Motility > 50% forward progression or
> 25% rapid progression within min
Morphology > 30% normal forms
WBC < 1 million/mL

18. Male Infertility Tx / Interventions: Treat underlying causes
Intrauterine Insemination (IUI)
Intracytoplasmic Sperm Injection (ICSI)

19. Female Infertility
Fecundability: probability of achieving a pregnancy within 1 menstrual cycle (25%)
Fecundity: ability to achieve a live birth within 1 menstrual cycle (6%)

20. Female Infertility
Production
Storage
Delivery

21. Female Fertility
Production:
Hypothalamus
Pituitary
Ovary

22. Hypothalamic-Pituitary-Gonadal Axis

24. Female Infertility Hypothalamus: Stress Exercise Eating disorders
Psychogenic
Congenital/genetic: Kallman’s syndrome (hyposmia & hypoplasia olfactory lobes of brain)
Starvation/stress or severe illness
Tumors (craniopharyngioma, metastatic tumor)
Head injury
Inflammation (sarcoidosis)
Infection (tuberculosis)
XRT
Drugs

25. Female Infertility Pituitary: Sheehan syndrome
Tumors: Pituitary adenoma, metastatic
Empty sella syndrome
Inappropriate gonadal steroid feedback:
estrogen excess: obesity/ tumors
estrogen deficiency: aromatase deficiency/ ER gene mutation
androgen excess: adrenal or ovarian
PCOS
Testicular feminization (46 XY) - absence androgen receptors

26. Female Infertility Ovary
Gonadal dysgenesis - Turner’s Syndrome 45XO or mosaics 46 XX/45 XO
Testicular feminization
XRT / Chemo for childhood malignancies
Premature ovarian failure

27. Female Infertility Storage (R.P.L. unless severe)
Uterine abnormalities
Mullerian Agenesis: Mayer-Rokitansky-Kuster- Hauser syndrome
Leiomyoma
Luteal phase deficiency

28. Female Infertility Delivery: Uterine abnormalities Vaginal septum
Tubal Disease
Infections/ STD/PID
Ruptured appendix
Septic abortion
Endometriosis

29. Female Infertility History: Age GTPAL Regulatory of period
Prolactin S/S
Thyroid S/S
Infections, Surgeries
Medication, Smoking, Ethanol
Medical history
Previous investigations

30. Female Infertility Examination: Thyroid Breast (milk)
Abdomen (masses, scars)
Vaginal (abnormalities)
Bimanual (Uterus, masses)

31. Investigations Blood work: Imaging: Diagnostic TSH PRL D3 FSH D3 LH
Luteal phase Progesterone
Imaging:
Pelvic Ultrasound
HSG
Diagnostic
Laparoscopy (later)

32. Treatment
Treat the underlying cause
Medical
Surgical

33. Treatment Anovulation: IVF ICSI Clomiphene induction  IUI
Gonadotropin  IUI
IVF
Bilateral tubal disease
Unexplained infertility after Gonadotropin + IUI failure.
Failure of the above
ICSI
Male factor
Unexplained infertility

34. Take Home Points DDx – Hx – Px – Inv - Rx
Age is important factor for female
Hypothalamic-Pituitary-Gonadal axis central in working up both male and female infertility
Investigations:
Male: Sperms
Female: Tubes (HSG) + Ovaries (FSH, LH, PRL, TSH)

35. Multiple Choice Questions

36. Infertility is defined as unprotected coitus for ___ months, without conception :3 6 9 12

37. Spermatogenesis and sperm maturation is regulated by :
Leydig Cells
Sertoli Cells
Vas Deferens
Intermediate Cells

38. Cause/s of male infertility is / are :
Kallaman’s syndrome
Craniopharyngioma
Marijuana abuse
All of the above

39. Normal semen count is ___ million / ml
≥ 15
≥ 20
≥ 25
≥ 30

40. Indication/s for semen analysis is / are :
Investigation for infertility
to check effectiveness of vasectomy
for selection of donor for artificial insemination
All of the above

41. Thank you