Endocrine Abstracts

Erectile dysfunction is a common complaint of men with hypogonadism. We present the case-history of a 42-year-old man who complained of erectile dysfunction for four years. Previous paternity was mentioned in his past medical history. On clinical examination his appearance was eunuchoid with frontal balding, reduced chest hair and lipomastia. Bilateral ptosis was also noticed and after being questioned the patient admitted that he had surgically repaired eyelid ptosis one year ago. His testes measured 8 ml each. Investigations revealed hypergonadotrophic hypogonadism (testosterone 1.88 ng/ml (normal range: 2.5–8.36) FSH 35 mIU/ml (nr: 1.5–12.4) LH 26.7 mIU/ml (nr: 1.7–8.6)) as well as elevated liver enzymes (SGOT: 49 IU/l, SGPT 65: IU/l, γ-GT: 205 IU/l) and CPK: 416 IU/l. Genetic analysis confirmed the presence of an-over 150 times-expansion of CTG repeat in the dystrophia myotonica protein kinase (DMPK) gene, a finding consistent with myotonic dystrophy type 1. After diagnosis was confirmed, the patient was examined for endocrinopathies known to be related to DM1. Thyroid function tests, PTH and cortisol levels were normal and the HOMA-IR level was 2.5. This case report highlights the need of thorough examination of all patients presenting with erectile dysfunction even for rare causes of hypogonadism.