Case of Myotonic Dystrophy with Hypogonadotropic Hypogonadism

Korean J Med > Volume 80(2); 2011 > Article

Original Article

The Korean Journal of Medicine 2011;80(2):233-238.

Case of Myotonic Dystrophy with Hypogonadotropic Hypogonadism

Joon Hur1, Hyo Kyeong Yu1, Yi Sun Jang1, Hye Soo Kim1, Jong Min Lee1, Jong-Su Yoon2, Koon Soon Kim3

저생식샘자극호르몬생식샘기능저하증을 동반하는 근긴장디스트로피 1예

허준1, 유효경1, 장이선1, 김혜수1, 이종민1, 윤종수2, 김군순3

Abstract

Myotonic dystrophies (DM) are genetic neuromuscular diseases that have autosomal dominant inheritance and are characterized by progressive muscular weakness. Myotonic dystrophy type 1 (DM1) is caused by the expansion of an unstable CTG repeat in the DMPK (myotonic dystrophy protein kinase) gene on chromosome 19q13.3. Endocrine disorders associated with DM1 include primary hypogonadism with testicular atrophy and insulin resistance. However, DM1 accompanying hypogonodotropic hypogonadism has not previously been reported in Korea. A 56-year-old man who suffered from progressive weakness and walking disturbance for many years was hospitalized due to pneumonia. During his treatment for pneumonia, he received oral hypoglycemic agents because of hyperglycemia. He was diagnosed with DM1, based on the results of an EMG and genetic analyses. He also displayed anosmia and gynecomastia and was diagnosed with hypogonodotropic hypogonadism, based on the results of hormone tests.

Key Words: Hypogonadotropic hypogonadism; Myotonic dystrophy