Hypospadias and disorders of sex development (DSD)
Recognize hypospadias in the newborn, do not miss signs of DSD, and refer the child to a pediatric urologist and endocrinologist in time.
Step 1 of 11
Objectives
After this course you will be able to
- Recognize the signs and types of hypospadias in the newborn.
- Explain why a child with hypospadias should not be circumcised.
- Know which cases of hypospadias require a DSD workup.
- Know the urgent measures when congenital adrenal hyperplasia (CAH) is suspected.
- Explain the timing, types and possible complications of surgery to parents.
Key message: a child with hypospadias is not circumcised. Hypospadias combined with a unilateral or bilateral undescended testicle raises suspicion of DSD, and the workup should start in the maternity hospital.
Basics
Hypospadias in numbers
- 1/200–300male births
- ~70%distal forms
- 6–18 monthsoptimal age for surgery
- ~5–10%complication risk in distal forms
Hypospadias is incomplete development of the ventral urethra, the foreskin and the corpora of the penis. The urinary opening is on the underside of the penis, lower than normal.
Risk factors: a family history of hypospadias, low birth weight and intrauterine growth restriction, assisted reproductive technologies, and certain maternal hormonal exposures during pregnancy.
Basics
Clinical picture and classification
The typical triad:
- Ectopic, ventral position of the urinary opening.
- Foreskin present only dorsally (a "hooded" appearance, a "born circumcised" penis).
- Ventral curvature (chordee), especially during erection.
| Form | Meatal position | Features |
|---|---|---|
| Distal | Glans, coronal sulcus, distal shaft | Most common, usually a single-stage repair |
| Midshaft | Middle of the penile shaft | Curvature may be present |
| Proximal | Proximal shaft, penoscrotal, scrotal, perineal | Severe curvature, bifid scrotum, undescended testicle, risk of DSD |
Sometimes the foreskin is complete and the hypospadias becomes visible only during circumcision (meatal anomaly with an intact prepuce). With this finding, the circumcision is stopped and the child is referred to a pediatric urologist.
Basics
Hypospadias and DSD
In distal, isolated hypospadias the likelihood of DSD is low, and routine genetic and hormonal testing is not needed. In proximal hypospadias, especially with an undescended testicle, the likelihood of DSD is considerably higher.
DSD red flags:
- Proximal hypospadias with a unilateral or bilateral undescended testicle.
- Bilateral nonpalpable testicles (in a child who appears male).
- Hypospadias combined with micropenis, bifid scrotum or penoscrotal transposition.
- In a child who appears female: clitoromegaly, posterior labial fusion, a mass in the groin or labia.
- Discordance between a prenatal karyotype and the external genitalia.
- A family history of DSD, neonatal death or adrenal insufficiency.
Diagnosis
Examining the newborn
- Position and size of the meatus, shape of the foreskin.
- Stretched penile length and penile curvature.
- Whether both testicles are palpable, and their size.
- Scrotal anatomy: bifid scrotum, penoscrotal transposition.
- Inguinal hernia, other congenital anomalies.
If the hypospadias is distal and both testicles are in the scrotum: inform the parents and refer the child electively to a pediatric urologist in the first months. Routine ultrasound, karyotype and hormone testing are not needed.
If neither testicle is palpable in a child with hypospadias, this may be a virilized 46,XX girl (CAH). Salt-wasting adrenal crisis usually starts in weeks 1–3 of life and can be fatal.
Diagnosis
Urgent workup for suspected DSD
- Do not rush sex assignment. Explain sensitively to the parents that the sex will be determined after testing.
- Karyotype and, if possible, a rapid genetic test for SRY.
- 17-OH progesterone (36–48 hours after birth; an earlier result may be falsely elevated).
- Sodium, potassium and glucose: repeated over the first weeks.
- Pelvic and adrenal ultrasound: looking for a uterus and gonads.
- Assessment by a team of an endocrinologist, pediatric urologist, geneticist and psychologist.
Hyponatremia, hyperkalemia, vomiting, weight loss and hypoglycemia are signs of a salt-wasting crisis. Such a child needs urgent inpatient treatment.
Diagnosis
Talking with parents
- Hypospadias is a correctable anomaly and does not affect the child's general health.
- In distal forms, most children achieve a good functional and cosmetic result with a single operation.
- The goals of surgery are a straight penis, a meatus at the tip, voiding standing up with a straight stream, and normal sexual function in the future.
- Do not have him circumcised: the skin is needed for the repair.
Treatment
Timing and types of surgery
Surgery is usually performed at 6–18 months: the tissues are sufficiently developed and the child will not remember the operation.
| Situation | Typical approach |
|---|---|
| Distal and midshaft hypospadias, mild curvature | Single-stage urethroplasty (for example, TIP/Snodgrass) |
| Proximal hypospadias, severe curvature (more than ~30° after degloving) | Often a two-stage repair (6 months apart) |
| Small glans | In selected cases, a short course of testosterone before surgery |
A catheter or stent stays in for 5–10 days after surgery. The child often goes home the same day or the next day.
Treatment
Complications
| Complication | Sign |
|---|---|
| Urethrocutaneous fistula | Urine coming from a second opening during voiding |
| Meatal stenosis | Thin stream, straining, prolonged voiding |
| Urethral stricture | Weak stream, residual urine, infection |
| Diverticulum | Swelling under the penis after voiding, dribbling |
| Wound breakdown (glans dehiscence) | The meatus again appears low |
| Residual curvature | Curvature during erection |
The complication risk is about 5–10% in distal forms and considerably higher in proximal forms. Most complications are corrected with a minor operation at least 6 months later.
After surgery, a weak stream, straining or recurrent infection may indicate a urethral stricture, and the child should be seen by a pediatric urologist.
Treatment
Long-term follow-up
- The stream is monitored before and after toilet training, with uroflowmetry when needed.
- Complications can appear years later, especially at puberty when the penis grows, so follow-up continues into puberty when possible.
- In adolescents with proximal hypospadias, sexual function, fertility and psychosocial well-being are discussed.
The pediatrician's role: recognize hypospadias in the newborn, prevent circumcision, check the testicles, start an urgent workup when DSD red flags are present, and refer the child in time.
Quiz
Quiz: Hypospadias and DSD
Test yourself: choose one answer.
-
A newborn has the meatus at the coronal sulcus, foreskin present only dorsally, and both testicles in the scrotum. What should be done?
This is isolated distal hypospadias. Routine genetic, hormonal and imaging studies are not needed; the child is not circumcised and is referred electively.
-
A newborn has penoscrotal hypospadias and bilateral nonpalpable testicles. What is the most dangerous possibility?
This combination is a DSD red flag. The most dangerous cause is CAH: a salt-wasting crisis is life-threatening in the first weeks. Karyotype, 17-OH progesterone and electrolytes are needed urgently.
-
What is the most appropriate age for hypospadias repair?
Surgery is usually performed at 6–18 months: the tissues are sufficiently developed and the child will not remember the operation.
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Six months after hypospadias repair, urine also comes from a second opening on the underside of the penis when the child voids. What is this?
Urine from a second opening is a urethrocutaneous fistula. It is usually closed with a minor operation at least 6 months later.
-
When should blood be drawn for 17-OH progesterone?
In the first 36–48 hours, 17-OH progesterone can be physiologically elevated and give a false-positive result. Electrolytes, in turn, are rechecked over the first weeks.
Course completed
Related articles for parents
Sources
- EAU Guidelines on Paediatric Urology, 2025: Hypospadias; Disorders of sex development.
- Lee PA, Nordenström A, Houk CP, et al. Global disorders of sex development update since 2006: perceptions, approach and care. Horm Res Paediatr. 2016;85(3):158–180.
- Snodgrass W, Bush N. Hypospadias. In: Campbell-Walsh-Wein Urology, 12th ed. 2020.
This material is intended for medical professionals and is based on current clinical guidelines. Decisions about an individual patient are made by the treating doctor.