Indication
This is a clinical test intended for HelpPurposes or indications for the test. Lab-provided.: Diagnosis
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.
- Adrenal insufficiency
- Arachnodactyly
- Chiari malformation
- Breech presentation
- Caesarian section
- Choanal atresia
- Craniosynostosis syndrome
- Cryptorchidism
- Proptosis
- Conductive hearing impairment
- Hyperkalemia
- Hypertelorism
- Hypertensive disorder
- Hypoglycemia
- Hyponatremia
- Ovarian cyst
- Polycystic ovaries
- Scoliosis
- Vesicovaginal fistula
- Oligohydramnios
- Clitoral hypertrophy
- Joint contracture of the hand
- Radioulnar synostosis
- Chordee
- Horseshoe kidney
- Frontal bossing
- Brachycephaly
- Primary amenorrhea
- Small for gestational age
- Low-set ears
- Congenital vertical talus
- Congenital laryngomalacia
- Bronchomalacia
- Tarsal synostosis
- Hemivertebrae
- Ambiguous genitalia
- Uterine hypoplasia
- Bifid scrotum
- Wide nose
- Large hands
- Simple ear
- Hypoplasia of scrotum
- Carpal synostosis
- Choanal stenosis
- Camptodactyly
- Hypospadias
- Single umbilical artery
- Depressed nasal bridge
- Decreased circulating cortisol level
- Anteriorly placed anus
- Decreased circulating renin level
- Labial hypoplasia
- Midface retrusion
- Malar flattening
- Decreased circulating progesterone
- Femoral bowing
- Temporal bossing
- Cloverleaf skull
- Ulnar bowing
- Broad foot
- Macrocephaly
- Humeroradial synostosis
- Increased circulating ACTH level
- Low maternal circulating estriol concentration
- Maternal virilization in pregnancy
- Elevated serum 11-deoxycortisol
- Fused labia majora
- Increased circulating progesterone
- Decreased circulating dehydroepiandrosterone concentration
- Elevated circulating 17-hydroxyprogesterone concentration
- Micropenis
- Microcephaly
- Decreased circulating androstenedione concentration
Show allAntley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750, Autosomal recessive; ABS1 (diagnosis/ clinical suspition/ etiology investigation/ classification)
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