Endocrine Abstracts

Introduction: The term disorder of sexual development (DSD) refers to a congenital condition characterised by a discordance in the development of chromosomal, gonadal and anatomical sex. The inborn errors of metabolism in these disorders due to genetic mutations lead to anomalous genitalia.Case report: A 16-year-old girl without significant family history was referred to our department for primary amenorrhea. The physical examination revealed: height of ...