Hormone Research in Paediatrics
Novel Insights from Clinical Practice / Case Report
Gagnon C. · Hurst A.C.E. · Ashraf A.P.
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Article / Publication Details
Abstract
Introduction: There are two major categories of peroxisomal disorders (PD): Peroxisomal biogenesis disorders (PBD) due to defects in peroxisomal (PEX) genes and deficiency of other peroxisomal enzymes (such as D-bifunctional enzyme deficiency due to HSD17B4). PD are characterized by abnormal elevations of very long-chain fatty acids (VLCFA). We aim to evaluate the clinical phenotype of adrenal insufficiency in patients with PD and to assess any genotype-phenotype correlations with adrenal insufficiency.
Methods: We performed a retrospective electronic medical record review at a single University Medical Center, of data over 12 years and identified seven patients with PD.
Cases: Of the seven patients identified, six patients had a diagnosis of PBD and one had a single peroxisomal enzyme deficiency, HSD17B4. The average age of the patients at diagnosis were 0.61 ± 0.66 years. Four patients (66.7%) had primary adrenal insufficiency: three, out of the four, patients had elevated baseline ACTH. Three patients failed to have increased response after Cortrosyn™ stimulation test. Three patients were on daily hydrocortisone replacement and one patient was on stress dose hydrocortisone only as needed. Specific genetic variant analysis revealed that, all the three patients with PBD and adrenal insufficiency who were on steroid supplementation had compound heterozygous pathogenic variant in exon 13 of PEX1 c.2097dupT (p.Ile700Tyrfs*42) and c.2528G>A (p.Gly843Asp) while the one patient with peroxisomal enzyme deficiency and adrenal insufficiency had compound heterozygous pathogenic variants in HSD17B4 c. 1369A>T (p.Asn457Tyr) and c.1210-1G>A (Splice Acceptor). Two of these patients with PEX1 variants also required mineralocorticoid supplementation. The three PBD patients without adrenal insufficiency did not have a PEX1 variant.
Conclusions: Primary adrenal insufficiency is common in patients with peroxisomal disorder. Based on our data, patients with the compound heterozygous PEX1 pathogenic variants of exon 13 (c.2097dupT and c.2528G>A) tend to have adrenal insufficiency. Aldosterone deficiency, though rare, can occur in PD.
S. Karger AG, Basel
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