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O&G CasesReproductive endocrinology & infertility

O&G Cases · Reproductive endocrinology & infertility

Azoospermia — diagnostic and ART-pathway communication station

Communication and management station: communicating a diagnosis of non-obstructive azoospermia, the genetic cascade (karyotype showing 47,XXY), the micro-TESE pathway, and the realistic options including donor sperm. Includes assessor key and marking domains.

communication4 min readVerification in progress

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FRANZCOGMRCOGABOG
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Target exams

FRANZCOGMRCOGABOG
Prompt
A 32-year-old man attends with his 30-year-old partner after 14 months of trying to conceive. Two semen analyses show azoospermia. Examination shows small firm testes (4 mL each), normal phallus, and bilaterally palpable vas deferens. FSH is 35 IU/L, testosterone 6 nmol/L. The couple has been told 'you will never have your own children' and has come for a second opinion.

Station brief

Format. Communication station, approximately 12 minutes. You are the gynaecology registrar in a fertility clinic. The couple have been told 'you will never have your own children' after two semen analyses showing azoospermia with a phenotype suggesting non-obstructive azoospermia. They have come for a second opinion. The assessor will feed you cues and observe how you communicate the diagnosis, the genetic cascade, and the realistic options.[4]

Candidate instruction. Take the couple through the diagnosis of non-obstructive azoospermia, the genetic cascade (karyotype showing 47,XXY / Klinefelter syndrome), the micro-TESE pathway with realistic outcomes, and the options including donor sperm. Verbalise the diagnosis in plain language, the reasoning behind the genetic tests, and the realistic prognosis. [4]

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References6ShowHide
  1. [1]Wang C, Mbizvo M, Festin MP, et al. Evolution of the WHO "Semen" processing manual from the first (1980) to the sixth edition (2021). Fertil Steril, 2022.PMID 34996596
  2. [2]Agarwal A, Baskaran S, Parekh N, Cho CL. Male infertility. Lancet, 2021.PMID 33308486
  3. [4]Romualdi D, Ata B, Bhattacharya S. Evidence-based guideline: unexplained infertility. Hum Reprod, 2023.PMID 37599566
  4. [5]Practice Committee of the American Society for Reproductive Medicine. Management of nonobstructive azoospermia: a committee opinion. Fertil Steril, 2018.PMID 30503112
  5. [7]Stouffs K, Seneca S, Lissens W. Genetic causes of male infertility. Ann Endocrinol (Paris), 2014.PMID 24768008
  6. [10]Krausz C, Casamonti E. Spermatogenic failure and the Y chromosome. Hum Genet, 2017.PMID 28456834
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