Congenital lack of penis – aphallia

Aphallia is a term that means lack of penis. It is a rare congenital anomaly in which the penis does not develop during the embryonic period 1. In this condition, the opening of the urethra is not located in the typical place. It is often located in the perineal area. A child born from a normal pregnancy, without complications, by caesarean section. Absence of penis, presence of formed scrotum and testicles located in it. The child is well nourished with good nutritional tolerance. Cytogenetic analysis - chromosome analysis of 24/48/72 hour coltures of lymphocytes /bone marrow, fibroblasts/ on 11 metaphases with G/C/Ag - band differential staining at 400-450 bands was performed. Normal male karyotype 46, XY. Aphallia is a congenital disorder that is very rare. This abnormality develops around the fourth week of embryonic development and is often associated with other abnormalities in fetal development. The parents of the child should decide on the sex of the child. If it is to be male, penile sculpture should be performed at the age of puberty.

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Publication Details

Journal
BMC Pediatrics
Published
2025-11-28
DOI
https://doi.org/10.1186/s12887-025-06258-4
Primary Topic
Urological Disorders and Treatments
Type
article
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article

Congenital lack of penis – aphallia

Elean Zanzov, Vanya Anastasova, Dimitar Dachev, P Stefanova
BMC Pediatrics
Urological Disorders and Treatments
article

Congenital lack of penis – aphallia

Elean Zanzov, Vanya Anastasova, Dimitar Dachev, P Stefanova
article en

Abstract

Aphallia is a term that means lack of penis. It is a rare congenital anomaly in which the penis does not develop during the embryonic period 1. In this condition, the opening of the urethra is not located in the typical place. It is often located in the perineal area. A child born from a normal pregnancy, without complications, by caesarean section. Absence of penis, presence of formed scrotum and testicles located in it. The child is well nourished with good nutritional tolerance. Cytogenetic analysis - chromosome analysis of 24/48/72 hour coltures of lymphocytes /bone marrow, fibroblasts/ on 11 metaphases with G/C/Ag - band differential staining at 400-450 bands was performed. Normal male karyotype 46, XY. Aphallia is a congenital disorder that is very rare. This abnormality develops around the fourth week of embryonic development and is often associated with other abnormalities in fetal development. The parents of the child should decide on the sex of the child. If it is to be male, penile sculpture should be performed at the age of puberty.

BMC PediatricsVol. 25(1)
Medical University Plovdiv (BG), St.Caridad Hospital (BG)
Openalex Percentile: Top 49%
Urological Disorders and Treatments
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