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Homozygous alpha-thalassemia associated with hypospadias in three survivors.

Authors
  • Fung, T Y
  • Kin, L T
  • Kong, L C
  • Keung, L C
Type
Published Article
Journal
American journal of medical genetics
Publication Date
Jan 29, 1999
Volume
82
Issue
3
Pages
225–227
Identifiers
PMID: 10215545
Source
Medline
License
Unknown

Abstract

We report three cases of homozygous alpha-thalassemia (alphaTH) who survived beyond the neonatal period, all with hypospadias. A review of literature identified two additional male cases of homozygous alphaTH who survived, and both had hypospadias. The simultaneous occurrence of the two conditions seems beyond coincidence and may be causally related. Possible pathogenesis for the association may be 1) homozygous alphaTH-induced in utero and/or edema secondary to hydrops fetalis, both leading to the failure of proper fusion of the urogenital folds, or 2) defect of another gene located at a chromosome 16p13.3 region. Thus, parents who request intrauterine therapy for a male fetus with homozygous alphaTH should be informed about this association and its prognosis.

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