Hypergonadotrophic hypogonadism has been reported in the context of mitochondrial neurogastrointestinal encephalopathy (MNGIE) (106, 107) and/or infantile onset spinocerebellar ataxia caused by recessive variants in the TWNK gene, which encodes for mtDNA helicase Twinkle (108). The gene discussed is TWNK; the disease is Hypergonadotropic hypogonadism.