Prenatal Diagnosis of Hypospadias – A Case Report

A 31-year-old (gravida 1, para 0) woman was referred to our clinic for routine level II ultrasound examination. Ultrasound examination at 12 weeks of gestation for Nuchal translucency scan (NT scan) was low risk of trisomy 21 and the nuchal thickness was 1.7 mm. Karyotyping was not done then. During our scan at 23 weeks of gestation, abnormal male external genitalia appearance was revealed. Blunted penile tip, rather than pointed tip was noted most frequently (Fig. 1), however, a pointed penis tip could still be seen when erect (Fig. 2). Relatively small penile shaft was detected as well (Fig. 3). Typical “tulip sign” of severe hypospadias was not so obvious at this gestational stage (Fig. 4). At 27 weeks of gestation, “tulip sign” of the fetus’ external genitalia became much more evident (Fig. 5). Abnormal urine stream from ventral penis was recorded. No other structural anomalies were detected. The fetus was delivered via vaginal delivery at 40 weeks of gestation. Upon postnatal physical examination, diagnosis of proximal-penile-shaft typed, and near penoscrotal-typed hypospadias (Fig. 6) with penoscrotal transposition of a bifid scrotum was confirmed (Fig. 7).

Fig. 1.

Blunted bulbous tip, 23 weeks of gestation.

Fig. 2.

Pointed penis tip during erection, 23 weeks of gestation.

Fig. 3.

Small penile shaft, 23 weeks of gestation.

Fig. 4.

Unobvious “Tulip sign”, 23 weeks of gestation.

Fig. 5.

“Tulip sign”, 27 weeks of gestation.

Fig. 6.

Hypospadias.

Fig. 7.

Penoscrotal transposition.

Hypospadias is an abnormality of anterior urethral and penile development in which the urethral opening is located on the ventral side of penis instead of the tip. The incidence is estimated between 0.2 and 4.1 per 1000 live births [1]. The most common associated anomalies are other urogenital anomalies (40%) such as vesicoureteral reflux (VUR), ureteropelvic junction obstruction (UPJO) and cryptorchidism (8–10%) [2]. Severe form of hypospadias was diagnosed prenatally following sonographic detection [3]:

1. A blunter bulbous tip to the penile shaft rather than the normal pointed morphology.

2. Various degrees of abnormal curvature of the penis.

3. A short penile shaft.

4. Observation of the two parallel echogenic lines corresponding to the dermal remains of the prepuce.

5. Ventral deflection of the urinary stream which can be studied also by color Doppler.

6. “Tulip sign”: small blunted-ended penis between two scrotal folds.

In our experience, a “tulip sign” may not be so obvious at early second trimester. A pointed tip of the penis can still be noted during erection even if the fetus is a victim of severe hypospadias, and this finding should not be mistaken as normal male external genitalia.