MAMLD1 and Down syndrome: - Syndromic associations of male genital development (e.g. cloacal anomalies, Robinow, Aarskog, Hand-Foot-Genital, syndromes) - Vanishing testis syndrome - Isolated hypospadias (CXorf6) - Congenital hypogonadotropic hypogonadism - Cryptorchidism (INSL3, GREAT) - Environmental endocrine disruptors