Seeking clarity on hypospadias and intersex conditions

Dear Dr. G,

I’ve been following your recent articles on ambiguous gender with interest. I wasn’t aware of the condition of being intersex, where even the basic definition of male or female is unclear.

I have some embarrassing issues related to this that I need to admit. You wrote about hypospadias during the pediatric urology series, and I have this condition. I was born early with undescended testicles and hypospadias.

Your article mentioned that hypospadias is usually a minor issue, but for me, the opening on the underside of my penis is pretty bad. It has caused a severe bend in the middle of my penis and made it look very small and covered by a hood of skin.

When I was born, the doctors thought I might be intersex. I’m in my early twenties now, and I’ve never had surgery to fix my hypospadias or undescended testicles.

My parents wanted to see how I would develop after puberty. I think it’s time for me to take control of my sexual and reproductive health.

I need some answers from you, Dr. G.

Is hypospadias something you’re born with or does it run in families? Could I actually be a female with male-like genitals? Is hypospadias a type of Intersex? How hard is it to fix a more severe case of hypospadias? Is it risky not to fix my hypospadias and undescended testicle?

Regards,
Ambiguous Adam

Hypospadias is a birth defect where a person has an abnormally placed urethral opening; it is not at the penis’s tip as expected, but on the underside of the glans.

This condition is marked by three distinct features. It often presents with an underdeveloped foreskin that doesn’t encircle the glans. This is called a hooded foreskin, leaving it partially uncovered. Additionally, this underdevelopment may lead to a downward curvature of the penis, known as chordee. While 90% of hypospadias cases are mild with only a slight deviation, the more severe instances have the opening incorrectly positioned along the lower shaft or even at the base near the scrotum, causing the penis to appear shortened.

Hypospadias is the second most prevalent congenital abnormality in male reproductive anatomy after undescended testicles, affecting one in 300 male births. The exact cause of its high incidence remains a mystery. Research exploring both genetic and environmental factors like prenatal hormones is ongoing. Another hypothesis links hypospadias to atypical epigenetic markers that shape sexual development. Interestingly, if one identical twin is born with hypospadias, the likelihood of the other twin having it is only 25%, despite identical genes and shared prenatal conditions. It’s estimated that about 10% of hypospadias cases are part of a more extensive disorder of sex development or a syndrome with multiple anomalies.

The cause of hypospadias is thought to be a disruption in penile formation during development in the womb. Normally, the penis develops from a structure surrounded by a urethral plate that extends the urinary channel to the penis’s tip. With hypospadias, this extension process is halted prematurely, leading to an incomplete formation and severe hypospadias combined with undescended testicles often suggest a variance in sexual development.

However, the presence of hypospadias alone doesn’t necessarily classify a person as intersex. Nonetheless, some intersex rights groups consider severe hypospadias as an intersex condition, especially when it involves surgery on infants who are too young to consent.

Medical studies indicate that men with severe, uncorrected hypospadias may face risks like having a micropenis, erectile dysfunction, and infertility. Additionally, undescended testicles can lead to lower sperm counts and an increased chance of cancer.

Most men with minor hypospadias can have a typical sexual and reproductive life, but surgery for severe hypospadias and undescended testicles is strongly advised to maintain normal functioning.

Repairing hypospadias – especially when it includes a misplaced opening, a hooded foreskin, and bending – involves complex reconstructive surgery that is typically performed on infants as young as three months or even adults. The procedure aims to extend the urinary channel, straighten any curvature, and remove the foreskin completely.

Treating more complicated cases associated with gender development differences, demands a more nuanced approach. The current consensus is that gender assignment in ambiguous genitalia should only be made following thorough evaluation by a multidisciplinary team, with critical surgical decisions postponed until the child can contribute to the conversation.

The journey from conception to life is an enigmatic process. While development usually nears perfection, for some, imperfections create uniqueness. Although most instances of hypospadias are minor, severe cases may impact one’s ability to procreate or enjoy sexual activity. The risk of cancer for associated undescended testicles can rise significantly.

Dr. G is of the opinion that when faced with the need for corrective surgery in hypospadias with downward ambiguity, open and multidisciplinary dialogue is essential to address nature’s flaws.