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Cited by 11Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype

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Wang, Chunqing, Tian, Qinjie·2023·Frontiers in Endocrinology
DOI 10.3389/fendo.2023.1226387PMC PMC10453803
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Abstract

Cytochrome P450 oxidoreductase deficiency (PORD) is a rare form of congenital adrenal hyperplasia that can manifest with skeletal malformations, ambiguous genitalia, and menstrual disorders caused by cytochrome P450 oxidoreductase (POR) mutations affecting electron transfer to all microsomal cytochrome P450 and some non-P450 enzymes involved in cholesterol, sterol, and drug metabolism. With the advancement of molecular biology and medical genetics, increasing numbers of PORD cases were reported, and the clinical spectrum of PORD was extended with studies on underlying mechanisms of phenotype–genotype correlations and optimum treatment. However, diagnostic challenges and management dilemma still exists because of unawareness of the condition, the overlapping manifestations with other disorders, and no clear guidelines for treatment. Delayed diagnosis and management may result in improper sex assignment, loss of reproductive capacity because of surgical removal of ruptured ovarian macro-cysts, and life-threatening conditions such as airway obstruction and adrenal crisis. The clinical outcomes and prognosis, which are influenced by specific POR mutations, the presence of additional genetic or environmental factors, and management, include early death due to developmental malformations or adrenal crisis, bilateral oophorectomies after spontaneous rupture of ovarian macro-cysts, genital ambiguity, abnormal pubertal development, and nearly normal phenotype with successful pregnancy outcomes by assisted reproduction. Thus, timely diagnosis including prenatal diagnosis with invasive and non-invasive techniques and appropriate management is essential to improve patients’ outcomes. However, even in cases with conclusive diagnosis, comprehensive assessment is needed to avoid severe complications, such as chromosomal test to help sex assignment and evaluation of adrenal function to detect partial adrenal insufficiency. In recent years, it has been noted that proper hormone replacement therapy can lead to decrease or resolve of ovarian macro-cysts, and healthy babies can be delivered by in vitro fertilization and frozen embryo transfer following adequate control of multiple hormonal imbalances. Treatment may be complicated with adverse effects on drug metabolism caused by POR mutations. Unique challenges occur in female PORD patients such as ovarian macro-cysts prone to spontaneous rupture, masculinized genitalia without progression after birth, more frequently affected pubertal development, and impaired fertility. Thus, this review focuses only on 46, XX PORD patients to summarize the potential molecular pathogenesis, differential diagnosis of classic and non-classic PORD, and tailoring therapy to maintain health, avoid severe complications, and promote fertility.

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  • Mineralocorticoid excess and consequent hypertension are uncommon in the overall PORD population, but several studies report a higher incidence of hypertension among carriers of the p.A287P variant.

    “Although mineralocorticoid excess and consequent hypertension are uncommon in the overall PORD population, several studies have reported a higher incidence of hypertension among carriers of the p.A287P variant (63, 64).”

    From Case Report: Integrating clinical presentation and genetic analysis in P450 oxidoreductase deficiency: a novel mutation and systematic review (2026) · cites this paper as [63]

    The Clinical features section (page not available) describes hypertension as a less common manifestation of PORD and says it is possibly secondary to elevated deoxycorticosterone. The Genotype–phenotype correlations section discusses A287P but does not report a higher incidence of hypertension among its carriers or attribute that finding to several studies. (LLM, conf=0.88)

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Cited by

Sorted by citations

Authors
Wang, C., & Tian, Q.
Affiliations
  • Capital Medical University (CN)
  • Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
Corresponding author
Tian, Qinjie
ORCID
Venue
Frontiers in Endocrinology
Publisher
Frontiers Media SA
Published
2023-08-11
Volume
14
Pages
1226387-1226387
ISSN
1664-2392 (ISSN-L)
DOI
10.3389/fendo.2023.1226387
PMC
PMC10453803
OpenAlex
W4385754338
Cited by
11
References
33
Citations by year
2026: 7 · 2025: 2 · 2024: 1 · 2023: 1
FWCI
0.29
Type
journal article
Language
en
Open access
Licence
Locations
  • Frontiers in Endocrinology (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
  • Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
congenital adrenal hyperplasia, 46,XX karyotype, adrenal crisis, gender assignment, hormone replacement therapy, assisted reproduction, prenatal diagnosis, differential diagnosis, genotype-phenotype correlation, fertility, pubertal development, ambiguous genitalia, drug metabolism
MeSH terms
Adrenal Hyperplasia, Congenital, Cysts, Female, Humans, Pregnancy, Rupture, Spontaneous, Disorders of Sex Development, Antley-Bixler Syndrome Phenotype, Karyotype

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