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Summary
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS ABS1
PORD P450 OXIREDUCTASE DEFICIENCY
201750
OMIM = Online Medalian Inheritance of Men
63269
7q11.23
very rare
autosomal recessive
Individuals with an Antley-Bixler Syndrome (ABS)-like phenotype ... and ambiguous genitalia and disordered steroidogenesis should be recognized as having a distinct new disease: POR deficiency [Huang N et al. 2005]
symptoms
adrenal insufficiency
arachnodyctyly
clitoral hypertrophy
craniostenosis
cryptorchism
genitalia, ambigous
hydronephrosis
hypertelorism
hypospadia
microcephaly (<2 SD for age)
micropenis
oligohydramnion (maternal)
polycystic ovaries
scoliosis
skeletal changes, skeletal abnormalities
small mid-face (malar or maxillary hypoplasia)
virilisation
laboratory finding
17-Hydroxy-Progesterone normal-increasedplasma
17-Hydroxypregnenolone normal-increasedplasma
Adrenocorticotropic hormone (ACTH) normal-increasedplasma
Adrenal androgens (DHEAS, androstenedione) normal-decreasedplasma
Androstenedione normal-decreasedplasma
Pregnanediol increasedurine
Literature
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Chandar S,et al.Effects of mechanical stress and carvedilol in lamin A/C-deficient dilated cardiomyopathyCirc Res1603573-5822010
Bassuny WMet al.A functional polymorphism in the promoter/enhancer region of the FOXP3/Scurfin gene associated with type 1 diabetesImmunogenetics553149-1562003
Hershberger RE,Siegfried JDUpdate 2011: clinical and genetic issues in familial dilated cardiomyopathyJ Am Coll Cardiol57161641-16492011
Nikolova-Krstevski V,et al.Nesprin-1 and actin contribute to nuclear and cytoskeletal defects in lamin A/C-deficient cardiomyopathyJ Mol Cell Cardiol503479-4862011
Wildin RSet al.X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfyNat Genet27118-202001