Case of Myotonic Dystrophy with Hypogonadotropic Hypogonadism.
- Author:
Joon HUR
1
;
Hyo Kyeong YU
;
Yi Sun JANG
;
Hye Soo KIM
;
Jong Min LEE
;
Jong Su YOON
;
Koon Soon KIM
Author Information
1. Department of Internal Medicine, The Catholic University of Korea School of Medicine, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Hypogonadotropic hypogonadism;
Myotonic dystrophy
- MeSH:
Atrophy;
Gynecomastia;
Humans;
Hyperglycemia;
Hypoglycemic Agents;
Hypogonadism;
Insulin Resistance;
Korea;
Male;
Middle Aged;
Muscle Weakness;
Myotonic Dystrophy;
Neuromuscular Diseases;
Olfaction Disorders;
Pneumonia;
Walking;
Wills
- From:Korean Journal of Medicine
2011;80(Suppl 2):S233-S238
- CountryRepublic of Korea
- Language:Korean
-
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.
