Infertility (male and female)

Causes

Appropriate Tests

Male

Clinical assessment includes duration of infertility, scrotal and penile development, testicular volume, evidence of androgen deficiency.

Semen analysis - fertility including Sperm Ab.

Sperm function tests (eg, structural abnormalities, oocyte binding) are available in only a few specialised laboratories. Follicle stimulating hormone, Luteinising hormone, Testosterone, Prolactin. Testicular biopsy is rarely indicated (special fixative required).

Testicular failure

 

Hypogonadotrophic hypogonadism (Hypothalamic/pituitary disorders)

See Pituitary/hypothalamic disorders.

Gonadotrophin releasing hormone deficiency (Kallmann syndrome)

See Pituitary/hypothalamic disorders.

Panhypopituitarism

See under Hypopituitarism.

Prolactinoma

See Pituitary hormone excess.

Hereditary haemochromatosis

 

Hypergonadotrophic hypogonadism (primary testicular disorders)

 

Chromosome abnormalities

Cytogenetics - constitutional.

Klinefelter syndrome

 

Cryptorchidism

 

Bilateral anorchia

 

Noonan syndrome

 

Vanishing testis syndrome
Acquired testicular failure

  • Trauma - thermal/physical
  • Varicocoele
  • Cirrhosis
  • Renal failure
  • Cytotoxic drugs/irradiation
  • Viral orchitis
  • Myotonic dystrophy
  • Autoimmune
  • Iron overload

Usually eugonadotrophic.

 





History of Mumps, or other viral infection, associated with Orchitis.
See under Muscular dystrophy.
Sperm Ab.
Iron studies (iron stores).

Anatomical abnormalities, eg

 

  • Hypospadias

 

  • Obstruction to vas deferens or epididymis, especially
    • Post-vasectomy
    • Sexually transmitted diseases
    • Congenital bilateral absence of vas deferens especially
      • Cystic fibrosis

 

Erectile dysfunction

 

Retrograde ejaculation

 

Autoimmune especially

Sperm Ab.

  • Post-vasectomy repair

 

  • Post-torsion

 

Female

Clinical assessment includes menstrual history and duration of infertility; consider the possibility of infertility in partner - see above. Endometrial biopsy, if indicated, to evaluate the response to endogenous hormones and to exclude infection and neoplastic lesions. See also Amenorrhoea.

Tubal/uterine disease, especially

  • Pelvic inflammatory disease
  • Sexually transmitted diseases
  • Endometriosis

 

Anatomical abnormalities

 

Anovulation

The patient may present with Amenorrhoea or oligomenorrhoea or may have a normal menstrual history; in which case anovulatory cycles may be occurring or the luteal phase may be inadequate. Serial Luteinising hormone and Progesterone assays to detect the absence of a luteinising hormone surge at ovulation or inappropriate luteal Progesterone levels.

References

See also Pathology Decision Support Tool: Infertility (female)