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Case of Myotonic Dystrophy with Hypogonadotropic Hypogonadism / 대한내과학회지
Korean Journal of Medicine ; : S233-S238, 2011.
Article in Korean | WPRIM | ID: wpr-209152
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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pneumonia / Atrophy / Wills / Insulin Resistance / Walking / Muscle Weakness / Gynecomastia / Hyperglycemia / Hypoglycemic Agents / Hypogonadism Limits: Humans / Male Country/Region as subject: Asia Language: Korean Journal: Korean Journal of Medicine Year: 2011 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pneumonia / Atrophy / Wills / Insulin Resistance / Walking / Muscle Weakness / Gynecomastia / Hyperglycemia / Hypoglycemic Agents / Hypogonadism Limits: Humans / Male Country/Region as subject: Asia Language: Korean Journal: Korean Journal of Medicine Year: 2011 Type: Article