Male-factor infertility — structured SAQ (15 marks)

(a) Compartment classification and endocrine interpretation (3 marks)

One mark for the WHO reference framing, one for the compartment, one for the endocrine interpretation. ^[1][2]

• His semen is severely abnormal against WHO limits (concentration under 15 million/mL, total motility under 40%, normal morphology under 4%).^[1]
• Compartment: the low FSH, low LH and low testosterone localise the lesion to the pre-testicular (endocrine) compartment — specifically hypogonadotropic hypogonadism secondary to exogenous testosterone. Testicular volume is preserved and the vasa are present, arguing against primary testicular failure or obstruction.^[2][6]
• Endocrine pattern: low gonadotrophins (FSH 2.1, LH 1.8) with low testosterone confirm central suppression; this is the expected effect of exogenous testosterone on the hypothalamic-pituitary-gonadal axis.^[7]

(b) Reversible cause and immediate management (4 marks)

One mark for identifying the cause, one for the action, one for the timeline, one for the rationale. ^[7]

• Cause: exogenous testosterone (intramuscular enanthate) is suppressing his axis and causing the severe oligozoospermia. Testosterone is contraceptive — it suppresses LH and FSH, collapsing intratesticular testosterone and stopping spermatogenesis.^[7]
• Action: stop the testosterone immediately. Do not substitute another testosterone preparation. If spontaneous recovery is inadequate, commence gonadotrophin therapy (hCG, with FSH added if needed) to restore intratesticular testosterone and spermatogenesis.^[2][7]
• Timeline: spermatogenesis takes roughly 2.5 to 3 months, so re-test the semen at 3 months and counsel the couple that recovery may take 3 to 6 months and is not guaranteed.^[2]
• Rationale: the suppression is iatrogenic and usually reversible; treating the cause is cheaper, safer and faster than proceeding to surgical retrieval or ART while the suppression persists.^[7]

(c) Genetic investigations (4 marks)

One mark per test with trigger and consequence. ^[2][6]

• Karyotype: indicated for severe oligozoospermia (concentration under 5 to 10 million/mL). Detects Klinefelter (47,XXY) and other sex-chromosome anomalies that change prognosis and counselling.^[6]
• Y-chromosome microdeletion (AZF a/b/c): indicated for concentration under 5 million/mL. AZFc deletions are compatible with sperm; complete AZFa or AZFb means surgical retrieval will fail — counsel donor sperm before consenting to retrieval. AZF deletions are transmissible to all sons via ICSI.^[6]
• CFTR (man and partner): indicated when the vas deferens is absent (CBAVD). His vasa are present, so CFTR is not primarily indicated here, but state the principle — if absent vas were found, both partners must be screened before ART because a carrier couple risks a child with cystic fibrosis.^[2]

(d) Evidence for empiric therapy (2 marks)

One mark for antioxidants, one for gonadotrophins. ^[5]

• Antioxidants: a Cochrane review found antioxidant supplementation may increase live birth in subfertile men (odds ratio 4.21, 95% CI 2.08 to 8.51) from four small studies, but the evidence is graded low quality — promising, not proven, and not a substitute for treating the defined cause.^[5]
• Gonadotrophins: indicated specifically for hypogonadotropic hypogonadism (his situation), where hCG ± FSH restores spermatogenesis. Empirical gonadotrophins or testosterone for other (eugonadal) male factor is not supported.^[2][7]

(e) Definitive ART plan and genetic counselling (2 marks)

One mark for the ART plan, one for counselling. ^[8][6]

• ART plan: if semen does not recover adequately, severe male factor (count well below the IUI threshold) is an indication for IVF with ICSI, not intrauterine insemination. Surgical sperm retrieval is not needed unless he remains azoospermic, in which case TESE/micro-TESE is considered.^[8]
• Genetic counselling obligation: before ICSI, complete and counsel on the karyotype and any Y-microdeletion result; Y microdeletions are transmissible to all sons. If CFTR testing were indicated, screen the partner and counsel on cystic fibrosis risk. Document the genetic discussion in the consent.^[6]