POR and Antley-Bixler syndrome: In humans certain POR gene mutations lead to deficient POR (PORD) characterized by disordered steroidogenesis with broad phenotypic spectrum including cortisol deficiency, altered sex steroid synthesis, disorders of sex development and skeletal malformations resembling the Antley-Bixler syndrome phenotype (Flück and Pandey, 2011; Fukami and Ogata, 2014; Miller, 2018).