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Cystic fibrosis (CF) is an autosomal recessive disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator ( CFTR ) gene. Defects in the CFTR gene cause abnormal chloride transport along the apical membrane of epithelial cells, resulting in progressive lung disease, pancreatic dysfunction, elevated sweat chloride, and male infertility. Atypical forms of CF are increasingly being recognized in older children and adults, posing a diagnostic challenge to clinicians. It is a diverse disorder affecting different organ systems of the body to varying degrees and combinations. Instead of having the classic symptoms, individuals with atypical CF might have involvement of only one organ system, and symptoms might not develop until adolescence or adulthood. We describe here two young men with diabetes who presented with primary infertility. Medical work up for evaluation of infertility led to a diagnosis of CF in both.A 32-year-old married man, diagnosed with diabetes 3 years ago, consulted us for primary infertility. There was no history suggestive of erectile dysfunction, and he had preserved libido. He had been diagnosed with diabetes during an evaluation for leg cramps. He denied abdominal pain or steatorrhea and had no past acute metabolic decompensation. There was no family history of diabetes in any first- or second-degree relatives. On physical examination, there was no acanthosis. His height was 158 cm, and his weight was 56 kg (BMI 22.4 kg/m²). He had normal testicular volume (25 mL) bilaterally, with normal consistency.The patient was initially diagnosed with fasting and postprandial hyperglycemia, as evidenced from his initial blood glucose reports (fasting plasma glucose [FPG] 168 mg/dL, posprandial glucose [PPG] 240 mg/dL).Baseline biochemical parameters were within normal limits, including normal morning testosterone, luteinizing horman (LH), and follicle-stimulating hormone (FSH) levels. An abdominal ultrasound showed apparently normal liver, pancreas, and kidneys.He had been taking glipizide …

Diabetes and Primary Infertility in Young Males: Do Not Forget Cystic Fibrosis