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Summary
DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY
613571
OMIM = Online Medalian Inheritance of Men
95699
7q11.23
rare
autosomal recessive
mutations in the POR gene
also result in a form of Antley-Bixler syndrome (201750)
symptoms
genitalia, ambigous
skeletal changes, skeletal abnormalities
virilisation
laboratory finding
17-Hydroxy-Progesterone increasedplasmaNeonatal
Adrenal androgens (DHEAS, androstenedione) increasedplasmaNeonatal
Literature
Funghini S,et al.Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohortGene4932228-2342012