Pendrid Syndrome; Congenital Hypothyroidism, Sensorineural Deafness, and Bronchiectasis, When the Whole Body Talks about it

Congenital hypothyroidism is the first endocrinopathy found in newborns. it is a pathology subject to systematic screening in most countries around the world. Pendrid syndrome is a genetic cause of HC with thyroid gland in situ. It is a genetic condition in “SLC26A4 gene” (OMIM 605646) encoding Pendrin protein, and resulting in neurosensory deafness with congenital hypothyroidism and goiter. The presence of the 2 major symptoms; deafness and CH, consolidates the diagnosis while genetic sequencing is an element of confirmation. We report the observation of an infant who is a candidate for cochlear implant surgery and who was referred to us for hypothyroidism, in whom there is a history of severe pneumonia on bronchiectasis, which is a manifestation directly related to pendrid syndrome. An adequate thyroid biological and morphological evaluation, as well as screening for other malformations that may be associated with pendrid syndrome are extremely important in a holistic management of this genetic disease. To also recall the vital role that systematic screening for HC can play in preventing neurological disability among children, a procedure that is still not systematic in our country and that we fight to implement it.