ArticleThe Journal of clinical endocrinology and metabolism2011
Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.
Article in The Journal of clinical endocrinology and metabolism, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.
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Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 61 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
- Chromosomal and genetic causes of primary ovarian insufficiency in the Utah population.Journal of the Endocrine Society · 2026Article
- The Role of Cytochrome P450 Holoenzyme Metabolism in the Origin of Neuropathologies.International journal of molecular sciences · 2026Review
- Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.Journal of endocrinological investigation · 2026Review
- Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46,XX Patients.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- 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
- Disorders of Sex Development of Adrenal Origin.Frontiers in endocrinology · 2021Review
- Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.Annals of pediatric endocrinology & metabolism · 2020Article
- Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.Frontiers in pediatrics · 2020Review
- Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.Orphanet journal of rare diseases · 2019Article
- 46,XX DSD due to Androgen Excess in Monogenic Disorders of Steroidogenesis: Genetic, Biochemical, and Clinical Features.International journal of molecular sciences · 2019Review
- Compound heterozygous variants inPediatric investigation · 2018Article
- Monogenic Disorders of Adrenal Steroidogenesis.Hormone research in paediatrics · 2018Review
- Congenital Adrenal Hyperplasia.Journal of pediatric and adolescent gynecology · 2017Review
- Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review.Journal of ovarian research · 2017Review
- Long-term follow-up of a female with congenital adrenal hyperplasia due to P450-oxidoreductase deficiency.Archives of endocrinology and metabolism · 2016Article
- Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.The Journal of clinical endocrinology and metabolism · 2013Article
- Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.The Journal of clinical endocrinology and metabolism · 2012Article
Corrections and comments
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Authors and funding
15 authors at 7 institutions in 6 countries.
Funding
Abstract
contextP450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase. Mutant POR causes congenital adrenal hyperplasia with combined glucocorticoid and sex steroid deficiency. P450 oxidoreductase deficiency (ORD) commonly presents neonatally, with disordered sex development in both sexes, skeletal malformations, and glucocorticoid deficiency.
objectiveThe aim of the study was to describe the clinical and biochemical characteristics of ORD during puberty.
designClinical, biochemical, and genetic assessment of seven ORD patients (five females, two males) presenting during puberty was conducted.
resultsPredominant findings in females were incomplete pubertal development (four of five) and large ovarian cysts (five of five) prone to spontaneous rupture, in some only resolving after combined treatment with estrogen/progestin, GnRH superagonists, and glucocorticoids. Pubertal development in the two boys was more mildly affected, with some spontaneous progression. Urinary steroid profiling revealed combined CYP17A1 and CYP21A2 deficiencies indicative of ORD in all patients; all but one failed to mount an appropriate cortisol response to ACTH stimulation indicative of adrenal insufficiency. Diagnosis of ORD was confirmed by direct sequencing, demonstrating disease-causing POR mutations.
conclusionDelayed and disordered puberty can be the first sign leading to a diagnosis of ORD. Appropriate testosterone production during puberty in affected boys but manifest primary hypogonadism in girls with ORD may indicate that testicular steroidogenesis is less dependent on POR than adrenal and ovarian steroidogenesis. Ovarian cysts in pubertal girls may be driven not only by high gonadotropins but possibly also by impaired CYP51A1-mediated production of meiosis-activating sterols due to mutant POR.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.