Dataset Information


Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.

ABSTRACT: BACKGROUND:Antley-Bixler syndrome (ABS) caused by P450 oxidoreductase deficiency (PORD) is a congenital adrenal hyperplasia with skeletal malformations and disordered sex development in both sexes. There have been no reports of ABS caused by PORD in Chinese children. METHODS:We described the clinical and genetic characteristics of eight Chinese children with ABS caused by PORD and compared them with those of subjects in previous studies. RESULTS:Eight patients, aged 6?months-17.8?years, showed strikingly similar craniofacial malformations. We first described four unreported features: lower eyelid fat pads (4/8), prominent lower eyelid-zygoma transverse line (4/8), underdeveloped or absent antihelix (5/8) and single earlobe crease (5/8). Five 46, XY patients presented various degrees of undervirilization, while three 46, XX cases showed masculinization. Basal endocrine measurements revealed the following consistent results: normal cortisol; elevated adrenocorticotropic hormone, progesterone, pregnenolone, 17-hydroxypropgesterone, and corticosterone; and decreased or normal testosterone/oestradiol. We identified three previously reported variants and four novel variants (c.51719_51710delGGCCCCTGTGinsC, p.D210G, p.Y248X and p.R554X) of POR. The most prevalent variant was p.R457H (8/16). The hydrocortisone dosages of patients differed because of variable degrees of adrenal insufficiency. CONCLUSIONS:We described novel phenotypes and genotypes of ABS caused by PORD. The variant p.R457H was the most prevalent in this cohort. All subjects had combined characteristics of 17-hydroxylase and 21-hydroxylase deficiency. Steroid replacement therapy for patients with PORD requires individually tailored dosing.


PROVIDER: S-EPMC6937861 | BioStudies | 2019-01-01

REPOSITORIES: biostudies

Similar Datasets

2012-01-01 | S-EPMC3380101 | BioStudies
2012-01-01 | S-EPMC3761981 | BioStudies
2005-01-01 | S-EPMC1199364 | BioStudies
2011-01-01 | S-EPMC3190716 | BioStudies
2017-01-01 | S-EPMC5348910 | BioStudies
2008-01-01 | S-EPMC4269338 | BioStudies
2009-01-01 | S-EPMC5576025 | BioStudies
2013-01-01 | S-EPMC3783497 | BioStudies
2018-01-01 | S-EPMC7331414 | BioStudies
2016-01-01 | S-EPMC5034044 | BioStudies