ArticleOrphanet journal of rare diseases2019
Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.
Article in Orphanet journal of rare diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.
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Who cites it
14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 21 citations in OpenAlex.
- Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review.Frontiers in endocrinology · 2026Pooled it
- Congenital adrenal hyperplasia, disorders of sex development, and infertility in patients with POR gene pathogenic variants: a systematic review of the literature.Journal of endocrinological investigation · 2023Pooled it
- Clinical and genetic spectrum of cytochrome P450 oxidoreductase deficiency in Chinese patients.Endocrine connections · 2026Article
- Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.Journal of endocrinological investigation · 2026Review
- Clinical Application of Steroid Profiles and Their Interpretation in Adrenal Disorders.Diagnostics (Basel, Switzerland) · 2026Review
- Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.Clinical genetics · 2025Review
- Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46,XX Patients.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Exploring Novel Variants of the Cytochrome P450 Reductase Gene (Biomolecules · 2023Article
- [Audiological phenotypes of Antlet-Bixler syndrome: a case report and literatures review].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Article
- Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype.Frontiers in endocrinology · 2023Review
- In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.Molecules (Basel, Switzerland) · 2022Article
- Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.Frontiers in endocrinology · 2022Article
- Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report.Translational pediatrics · 2021Article
- Successful live birth in a Chinese woman with P450 oxidoreductase deficiency through frozen-thawed embryo transfer: a case report with review of the literature.Journal of ovarian research · 2021Review
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundAntley-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.
methodsWe 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.
resultsEight 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.
conclusionsWe 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.
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