Living with Posterior hypospadias
A birth difference in boys in which the urine opening is lower on the penis or on the scrotum or perineum, often with a bent penis.
Understanding Posterior hypospadias
The urethral opening is located lower than usual: on the penis near the scrotum, on the scrotum, or on the perineum. It is often along with a curved penis. In severe cases the scrotum may look split, and a boy may have a small penis. It is present from before or at birth and occurs on its own, without other syndrome features.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Urethral opening in an unusual place
- Curved penis
- Undescended testes (cryptorchidism)
- Foreskin that is short on the underside
- Split scrotum (in severe cases)
- Small penis (micropenis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in MAMLD1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the MAMLD1 gene cause this condition. It is X-linked, meaning the gene is on the X chromosome.
Also known as: hypospadias, severe form; non-syndromic posterior hypospadias; perineal, scrotal or penoscrotal hypospadias
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Posterior hypospadias.
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