Urology treats urinary tract diseases in all genders and male reproductive issues, covering the kidneys, bladder, prostate, urethra, from infections to complex cancers.
Send us all your questions or requests, and our expert team will assist you.
The diagnosis of hypospadias is primarily clinical, relying on a meticulous physical examination of the newborn. The assessment extends beyond the mere location of the meatus to a comprehensive evaluation of the penile anatomy. The clinician evaluates the size of the penis (stretched penile length), the quality and width of the urethral plate, the presence and severity of chordee, and the configuration of the scrotum. The glans is assessed for its width and the depth of the urethral groove, as a flat or narrow glans can complicate surgical closure.
Classification systems have evolved from simple anatomical descriptions (distal, midshaft, proximal) to more functional scores, such as the GMS (Glans Meatus Shaft) score. This scoring system objectively quantifies the severity of the defect based on glans width, meatal location, and the degree of shaft curvature. Such precise phenotyping is crucial for surgical planning and predicting outcomes. The examination also screens for associated anomalies, specifically cryptorchidism and inguinal hernias, which share a common embryological origin.
While the external defect is visible, the internal anatomy requires advanced imaging in complex cases. Pelvic ultrasound is the first-line modality for evaluating the kidneys and bladder and screening for congenital anomalies of the kidney and urinary tract (CAKUT). Although upper tract anomalies are rare in isolated distal hypospadias, the incidence increases in severe proximal cases or those with multiple congenital disabilities.
In cases of ambiguous genitalia or severe hypospadias with cryptorchidism, Magnetic Resonance Imaging (MRI) provides superior soft tissue contrast. MRI can visualize the internal reproductive organs, assessing for the presence of a uterus or Müllerian remnants (like a prostatic utricle), which is critical for the diagnosis of Disorders of Sex Development. High-resolution ultrasound can also assess testicular volume and perfusion, helping ensure the gonads’ health.
Endocrine evaluation is vital for patients with proximal hypospadias or those suspected of having a DSD. The “mini puberty” of infancy (between 1 and 4 months of life) offers a window to assess the endogenous hormonal axis. Serum levels of Testosterone, Luteinizing Hormone (LH), and Follicle Stimulating Hormone (FSH) are measured.
If the window of mini puberty is missed or if basal levels are low, a Human Chorionic Gonadotropin (hCG) stimulation test is performed. This test measures the Leydig cell reserve by quantifying the rise in testosterone following hCG administration. A failure to respond suggests testicular dysgenesis or a defect in testosterone biosynthesis. Additionally, measuring precursors like 17-hydroxyprogesterone is mandatory to rule out Congenital Adrenal Hyperplasia, a life-threatening condition involving salt wasting.
The genetic workup has transitioned from standard karyotyping to high-resolution chromosomal microarray analysis and Next Generation Sequencing (NGS) panels. Karyotyping determines the chromosomal sex (46, XY vs. 46, XX or mosaicism). Microarrays can detect microdeletions or duplications that are too small to be seen on a standard karyotype.
Targeted NGS panels screen for mutations in a specific set of genes known to be involved in genital development (e.g., AR, SRD5A2, SF1, WT1). Identifying a genetic cause provides a definitive diagnosis, aids in gender assignment in complex cases, and informs genetic counseling regarding recurrence risks. Epigenetic testing is also emerging as a tool to evaluate methylation patterns associated with environmental exposures.
In select complex cases, diagnostic cystoscopy is performed during surgical repair. This allows for the direct visualization of the urethra and bladder neck. It is beneficial for identifying the presence of a prostatic utricle (an enlarged blind pouch in the prostatic urethra), which can be a source of infection or a cause of difficulty with catheterization. Cystoscopy also verifies the anatomy of the sphincter and the verumontanum, ensuring that the reconstruction plan accounts for any internal anatomical deviations.
Send us all your questions or requests, and our expert team will assist you.
The urinary system and the genital system develop from neighboring tissues in the embryo. Therefore, a defect in one can be associated with a defect in the other. While rare in mild cases, babies with severe hypospadias involving the scrotum or those with other congenital anomalies have a higher risk of kidney problems. An ultrasound is a safe, non-invasive way to check that the kidneys and bladder formed correctly.
A karyotype is a genetic test that produces an image of an individual’s chromosomes. It is used to determine the genetic sex (XX for females, XY for males) and to detect significant chromosomal abnormalities. In severe hypospadias, especially when testicles are not felt, a karyotype is essential to rule out chromosomal conditions that affect sexual development, such as Klinefelter syndrome or mixed gonadal dysgenesis.
The hCG stimulation test involves a series of intramuscular injections over a few days, followed by a blood draw. The injections can be uncomfortable, similar to a vaccination. The test is crucial for determining if the testicles are capable of producing testosterone, which is vital for planning treatment and understanding the child’s future hormonal health.
A prostatic utricle is a small, blind ending pouch located in the prostate gland, connected to the urethra. It is a remnant of the tissue that would have become the uterus in a female. In severe hypospadias, this pouch can be enlarged. While often asymptomatic, a large utricle can trap urine, leading to infections or making catheterization difficult. Cystoscopy helps identify if one is present.
Knowing the anatomy tells us what is wrong, but genetic testing tells us why. Identifying a specific genetic mutation can reveal whether the condition is part of a larger syndrome that might affect other organs (such as the heart or kidneys) or whether it has implications for the child’s future fertility and health. It also helps parents understand the likelihood of the condition occurring in future children.
Leave your phone number and our medical team will call you back to discuss your healthcare needs and answer all your questions.
Your Comparison List (you must select at least 2 packages)
