Introduction

Abstract

Sometimes in science, it is important to address the right question. It was in 1896 that a young doctor, Vaughan Pendred (1869–1946), observed two cases of deaf-mutism and goiter in a large Irish family resident in Durham (Pearce 2007) and asked himself, as well as the readers of the prestigious medical journal The Lancet: “Why this association?” (Box 1.1) (Pendred 1896). In 1960, Fraser, Morgans, and Trotter proposed the eponymous of “Pendred syndrome” for defining the association of congenital deafness and sporadic goiter. The same authors attempted to explain the reason of this association with an interference between thyroxine synthesis and auditory function by toxic substances produced by an aberrant metabolic pathway (Fraser et al. 1960; Fraser 1965), a hypothesis that was never demonstrated. In the same period, Thould and Scowen postulated that deafness in Pendred syndrome could arise from an inadequate exposure to thyroid hormones in utero (Thould and Scowen 1964). This hypothesis was refuted by the fact that the nature of deafness caused by hypothyroidism – nerve (De Vos 1963) or conduction type – is different from that observed in Pendred syndrome (perceptive, i.e., sensorineural) (Woolf 1965), and the cause of the syndrome remained obscure.