Endocrine Abstracts

Introduction: Infertility is a common medical condition affecting 50 million couples worldwide and azoospermia account for around 10 % of cases of male infertility. Non-obstructive azoospermia is one of the most severe forms of male infertility and aetiology could be due to primary testicular failure, secondary testicular failure and those with incomplete or ambiguous picture of testicular failure.

Case report: A 34-year-old patient referred to endocrine clinic for further evaluation for primary subfertility. The couple was unable to conceive after 5 years of regular unprotected intercourse. He denied reduced libido or sexual dysfunction. He had uneventful childhood and pubertal development. He denied previous inguinal/testicular surgeries, testicular trauma or infections or toxic exposures and denied any history of anabolic androgen abuse. There was no family history of male infertility. He was treated for depression 4 years back but had no other illnesses. On examination his height was 168 cm with BMI of 34 and had normal adult male facial and body hair distribution with no gynecomastia. Genital examination revealed bilateral soft, small testes; 6 ml on right side and 4 ml on left side, with normal penile length. His blood investigations (table 1) revealed evidence of normo-gonadotrophic hypogonadism and MRI pituitary was within normal limits. USS testes confirmed bilaterally small testes with normal perfusion and otherwise normal epididymis. His seminal fluid analysis revealed azoospermia on two sperm samples. Subsequent evaluation revealed 46 XY karyotype, negative for complete AZF microdeletions and CFTR gene variant was not identified. He was referred to subfertility clinic and was planed for surgical sperm retrieval and IVF.

Conclusion: Patients with azoospermia needs to be evaluated for chromosomal and genetic abnormalities. However underlying aetiology and genetic mechanisms remain largely unclear. Combination of sperm extraction with in vitro fertilization and intra-cytoplasmic sperm injection gives these patients an opportunity to father children with the sperm retrieval rate is around 40 to 50%.