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.
Authors
- Elean Zanzov (ORCID: https://orcid.org/0000-0002-8836-6220)
- Vanya Anastasova (ORCID: https://orcid.org/0000-0003-0093-3372)
- Dimitar Dachev
- P Stefanova (ORCID: https://orcid.org/0009-0008-1246-8993)
Institutions
- Medical University Plovdiv (BG)
- St.Caridad Hospital (BG)
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
- Field-Weighted Citation Impact
- 0.00