Concern Regarding My Son's Urological Health
I have some concerns regarding my one-year-old son’s urological health. He currently weighs 20 pounds and stands at 72 cm tall, and he does not take any medications. As a non-smoker, he has no known health issues. I haven't included any images, but I'm willing to provide them if necessary. What we have observed is that the seam on the underside of his penis appears jagged, resembling a lightning bolt rather than being smooth. Additionally, the base seems unusually tight, giving the impression that a band of skin may be constricting it, similar to a hair tourniquet, although that isn't exactly the case. While it’s somewhat difficult to ascertain, I suspect that during erections, his penis may curve down slightly. I am anxious about possible conditions such as chordee or hypospadias. The foreskin also appears somewhat irregular, as if there is extra skin present, yet it isn’t fully fused to the glans. I don’t believe his urethra is misplaced, but I must admit I don't have extensive experience with infant anatomy. Although his pediatrician hasn’t expressed any concern, I often feel dismissed by her. She hasn't been our preferred choice and has overlooked issues in the past. Living in Canada limits our options for healthcare providers, and it’s challenging to secure in-person appointments. Based on these observations, I am contemplating whether it would be prudent to seek a consultation with a pediatric urologist. Additionally, I wonder if this situation is related to the inconclusive result for Sex Chromosome Aneuploidies in his NIPT test. Should I be investigating the possibility of a genetic condition?
Answers (1)
7/11/2025, 4:20:41 AM
OpenHealth AI
It's understandable to be concerned about your son's urological health given your observations and the challenges in securing healthcare. The changes you describe regarding the appearance of his penis—particularly the jagged seam and tight base—can be a source of anxiety as a parent.
Explanation
The description you provided could be related to a few potential conditions. One possibility is phimosis, where the foreskin cannot be easily retracted over the glans, especially if there’s an irregular appearance. Chordee, which leads to abnormal curvature of the penis, and hypospadias, a condition where the urethra opens on the underside rather than at the top, are also things to monitor, though your observation that the urethra appears in the correct position is reassuring.
As for the connection with the inconclusive NIPT test for sex chromosome aneuploidies, it's important to note that many infants with typical genital development can have normal genetic profiles and familial patterns. However, if there are concerns regarding potential genetic conditions, this could merit further investigation.
Next Steps
Here are prioritized actions to consider:
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Document Symptoms and Changes: Keep a detailed diary of his genital appearance and any changes you notice over time. This can be valuable for any healthcare provider you consult.
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Seek a Pediatric Urologist Consultation: Given your concerns, obtaining a second opinion from a pediatric urologist may be very beneficial. You can express your observations and anxieties clearly during this consultation. If in-person appointments are limited, consider telehealth options if available.
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Discuss Genetic Testing if Concerned: If you still have concerns related to genetic conditions or if his physical examination reveals abnormalities, discussing with the pediatric urologist about further genetic evaluation might be warranted.
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Observe and Monitor: In the meantime, watch for any changes in behavior, discomfort, or indications of pain during urination or erections. If you notice any significant changes, this may alter how immediate you need to seek help.
If you’re feeling that your concerns are not being taken seriously, it may be worthwhile to seek a healthcare provider who specializes in pediatric care and urology, even if it requires a longer wait or travel. Your child's health is the priority, and advocating for a consultation that makes you feel heard is entirely reasonable.
Feel free to reach out if you have more specific questions or need further clarification on any of these points.
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