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Diagnosis and treatment When molecular genetic testing is not definitive, the diagnosis of CPT1A is confirmed in a proband by the discovery of biallelic pathogenic mutations in CPT1A on molecular genetic testing or decreased carnitine palmitoyltransferase 1 (CPT 1) enzyme activity on cultured skin fibroblasts

For quality control, we excluded participants who (1) have excess relatedness (more than 10 putative third-degree relatives), (2) have inconsistent information about sex based on genotyping and self-report, (3) have sex-chromosomes not XX or XY, (4) have poor-quality genotyping based on heterozygosity and missing rates, or (5) have withdrawn from UK Biobank

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Always consult a qualified healthcare professional before making changes to your TRT protocol or aromatase inhibitor dosing.

Shibbani K, Fahed AC, Al-Shaar L, Arabi M, Nemer G, Bitar F, et al

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