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GTR Home > Conditions/Phenotypes > Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis

Synonyms
Cytochrome P450 Oxidoreductase Deficiency; POR Deficiency

Summary

Excerpted from the GeneReview: Cytochrome P450 Oxidoreductase Deficiency
Cytochrome P450 oxidoreductase deficiency (PORD) is a disorder of steroidogenesis with a broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development (DSD), and skeletal malformations of the Antley-Bixler syndrome (ABS) phenotype. Cortisol deficiency is usually partial, with some baseline cortisol production but failure to mount an adequate cortisol response in stress. Mild mineralocorticoid excess can be present and causes arterial hypertension, usually presenting in young adulthood. Manifestations of altered sex steroid synthesis include ambiguous genitalia/DSD in both males and females, large ovarian cysts in females, poor masculinization and delayed puberty in males, and maternal virilization during pregnancy with an affected fetus. Skeletal malformations can manifest as craniosynostosis, mid-face retrusion with proptosis and choanal stenosis or atresia, low-set dysplastic ears with stenotic external auditory canals, hydrocephalus, radiohumeral synostosis, neonatal fractures, congenital bowing of the long bones, joint contractures, arachnodactyly, and clubfeet; other anomalies observed include urinary tract anomalies (renal pelvic dilatation, vesicoureteral reflux). Cognitive impairment is of minor concern and likely associated with the severity of malformations; studies of developmental outcomes are lacking.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Jan Idkowiak
Deborah Cragun
Robert J Hopkin
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Available tests

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Clinical tests (44 available)

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Molecular Genetics Tests

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  • Also known as: CPR, CYPOR, P450R, POR
    Summary: cytochrome p450 oxidoreductase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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