hypospadias
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Hypospadias refers to a type of congenital malformation affecting the male external genitalia.
Epidemiology
The estimated prevalence is ~2 (range 0.2-4.1) per 1000 live births.
Pathology
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.
Associations
Associated anomalies are common and include:
- congenital vesico-ureteral reflux
- cryptorchidism
- inguinal herniation
Syndromic associations include:
- Aarskog syndrome
- genito-palato-cardiac syndrome
- Roberts syndrome
- Smith-Lemli-Opitz syndrome
- Wolf-Hirschhorn syndrome
Radiographic features
Antenatal ultrasound
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 .
Siehe auch:
- Kryptorchismus
- Roberts-Syndrom
- Smith-Lemli-Opitz-Syndrom
- Aarskog-Syndrom
- Inguinalhernie
- Hypospadia penis
- Harnröhrenduplikatur
- Wolf-Hirschhorn-Syndrom
- Meatus urethrae externus
- Hypospadie bei Mädchen und Frauen
und weiter:
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