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Hypospadias refers to a type of congenital malformation affecting the male external genitalia.
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The estimated prevalence is ~2 (range 0.2-4.1) per 1000 live births.
The urethral meatus is abnormally positioned proximally and ventrally to its normal position.
It is thought to be due to failure of fusion of the urethral groove secondary to either testosterone deficiency or end-organ insensitivity to testosterone.
Associated anomalies are common and include:
Syndromic associations include:
- Aarskog syndrome
- genito-palato-cardiac syndrome
- Roberts syndrome
- Smith-Lemli-Opitz syndrome
- Wolf-Hirschhorn syndrome
May identify an anomalous distal morphology of the penis (where it loses its pointed end, which becomes blunter or straighter, in the form of a squashed cone).
There may be small lateral folds seen as longitudinal echogenic lines (dermal remains of the prepuce).
There may be a ventral curvature of the distal penis, extension of the penile glans beyond the prepuce, and evidence of fetal micturition in a plane perpendicular to the penile shaft 3.
- 1. Cafici D, Iglesias A. Prenatal diagnosis of severe hypospadias with two- and three-dimensional sonography. J Ultrasound Med. 2002;21 (12): 1423-6. J Ultrasound Med (full text) - Pubmed citation
- 2. Sides D, Goldstein RB, Baskin L et-al. Prenatal diagnosis of hypospadias. J Ultrasound Med. 1996;15 (11): 741-6. J Ultrasound Med (abstract) - Pubmed citation
- 3. Smulian JC, Scorza WE, Guzman ER et-al. Prenatal sonographic diagnosis of mid shaft hypospadias. Prenat. Diagn. 1996;16 (3): 276-80. doi:10.1002/(SICI)1097-0223(199603)16:3<276::AID-PD847>3.0.CO;2-R - Pubmed citation