ESPEYB17 8. Adrenals Reviews (4 abstracts)
8.21. P450 oxidoreductase deficiency: A systematic review and meta-analysis of genotypes, phenotypes, and their relationships
Dean B , Chrisp GL , Quartararo M , Maguire AM , Hameed S , King BR , Munns CF , Torpy DJ , Falhammar H & Rushworth RL
To read the full abstract: J Clin Endocrinol Metab. 2020; 105(3): dgz255. PMID: 31825489.
P450 oxidoreductase deficiency (PORD) is a rare autosomal recessive variant of congenital adrenal hyperplasia (CAH) arising from homozygous or compound heterozygous mutations to the gene encoding the enzyme P450 oxidoreductase (POR ) (1). Patients with PORD have a range of skeletal malformations, glucocorticoid deficiency, and disorders of sexual development (2). The extent of skeletal malformations can be assessed using a scoring system (2).
This systematic review and meta-analysis summarises the skeletal malformations in a PORD cohort, as well as maternal virilization in pregnancy, adrenal insufficiency, hormone concentrations, blood pressure, and DSD, with particular reference to genotype-phenotype relationships. Although skeletal malformations were identified in 84% of patients with PORD, no specific skeletal anomaly, or group of anomalies, was found to be characteristic of PORD and malformations can be either widespread or localized to particular parts of the skeleton. In addition, as previously reported, PORD patients were found to have a characteristic hormonal profile, where serum concentrations were typically elevated for progesterone, pregnenolone, 17OHP, corticosterone, and DOC, but were variable for DHEA, baseline cortisol, aldosterone, and androstenedione (3). Patients were typically normotensive at the time of investigation, but 20% of patients were mildly hypertensive, most likely secondary to elevated DOC, as previously suggested (2).
References:
1. Flück CE, Tajima T, Pandey AV, et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004; 36(3):228–230.
2. Krone N, Reisch N, Idkowiak J, et al. Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. J Clin Endocrinol Metab. 2012; 97(2):E257–E267.
3. El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. Lancet. 2017; 390(10108):2194–2210.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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