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Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis

Orpha number ORPHA63269
Synonym(s) Antley-Bixler syndrome type 2
Antley-Bixler syndrome, POR-related
Antley-Bixler-like syndrome - ambiguous genitalia - disordered steroidogenesis
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Neonatal/infancy
ICD-10 -
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

This syndrome is characterised by the association of the Antley-Bixler skeletal malformation syndrome (see this term) with ambiguous genitalia and disordered sterol metabolism (combined partial deficiency of 17-hydroxylase and 21-hydroxylase). Prevalence is unknown but less than 50 patients have been described in the literature so far. The ambiguous genitalia is characterised by undervirilization in males with small penis and undescended tests, and by overvirilization in females with vaginal atresia, fused labia minora, hypoplastic labia majora, and clitoromegaly. Maternal virilization during pregnancy has also been reported. The syndrome is transmitted as an autosomal recessive trait caused by mutations in the cytochrome P450 oxidoreductase gene (POR; 7q11.2). As ambiguous genitalia is not a compulsory finding in patients with cytochrome P450 oxidoreductase deficiency and the disorder in steroidogenesis may go unrecognised without urinary steroid profiling, some patients are diagnosed with classic Antley-Bixler syndrome.


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