HSD10 disease in a female: A case report and review of literature.

HSD10 disease is a rare X-linked mitochondrial disorder caused by pathogenic variants in the gene. The phenotype results from impaired 17β-hydroxysteroid dehydrogenase 10 (17β-HSD10) protein structure and function. HSD10 is a multifunctional protein involved in enzymatic degradation of isoleucine and branched-chain fatty acids, the metabolism of sex hormones and neurosteroids, as well as in regulating mitochondrial RNA maturation.