Searchable abstracts of presentations at key conferences in endocrinology

ea0063ep75 | Interdisciplinary endocrinology | ECE2019

Short stature revealing Thomsen’s disease: a case report

Imaouen Maryame , Derrou Sara , Benabdelfedil Youssra , El Guendouz Faycal , Ouleghzal Hassan , Safi Soumaya

Introduction: Thomsen’s disease is a non-dystrophic congenital myotonia with autosomal dominant inheritance. Its association with short stature attributed to growth hormone deficiency (GHD) has never been reported in literature to our best knowledge.Case report: A 14-years-old Moroccan boy, with no particular medical history, presented for evaluation of a short stature. On physical examination, the patient had a height of 141 cm (−2.5 S...