Obstructive Azoospermia Revealing CFTR-Related Disorder in an Adult With Recurrent Pancreatitis.

Obstructive azoospermia represents a critical diagnostic category in male infertility, with congenital bilateral absence of the vas deferens being a well-established etiology associated with Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene variants. We report a 38-year-old man presenting with primary infertility and a history of recurrent pancreatitis. Evaluation revealed azoospermia with low ejaculate volume, normal hormonal profile, and bilateral absence of the vas deferens on physical examination. Genetic testing identified compound heterozygosity for a pathogenic CFTR variant (p.Phe508del) and a c.1210-34TG(12)T(5) splicing variant. The TG[n]T[m] polymorphic tract influences CFTR mRNA splicing, and the combination of T5 with longer TG repeats is associated with reduced CFTR function. This case underscores the importance of thorough urologic evaluation in patients with infertility and highlights the clinical relevance of less frequently emphasized variants such as TG12T5 in CFTR-related disorders.