Hypogonadism in DM1 and its relationship to erectile dysfunction

Abstract

Myotonic dystrophy type 1 (DM1) is characterized by both a premature appearance of age-related phenotypes and multiple organ involvement, which affects skeletal and smooth muscle as well as the eye, heart, central nervous system, and endocrine system. Although erectile dysfunction (ED) is a frequent complaint in patients with DM1, it has not been investigated in great depth. Hypogonadism, which is reported to be one of the physical causes of ED in the general population, frequently occurs in DM1. We planned this case-control study to evaluate the relationship between hypogonadism, as defined by the sexual hormone profile (FSH, LH, testosterone (T) and prolactin) and ED, as assessed by means of an internationally validated self-administered questionnaire (IIEF). DM1 patients had significantly increased mean levels of both gonadotropins (FSH and LH) (p < 0.0001) and a reduced mean level of T (p < 0.0001) when compared to controls. Twelve patients were eugonadic (normal LH, T, and FSH), while 18 displayed hormonal evidence of hypogonadism, characterized by tubular failure (increased FSH) in all the subjects and associated with interstitial failure in 14 subjects: seven with primary hypogonadism (increased LH and reduced T) and seven with compensated hypogonadism (increased LH and normal T). Patients with hormonal evidence of interstitial failure had a larger CTG expansion (p = 0.008), longer disease duration (p = 0.013), higher grade of disease (p = 0.004) and lower erectile function score (p = 0.02) than eugonadic patients. Impotence occurred in 13/14 hypogonadic patients with interstitial failure and in 5/12 eugonadic patients (p = 0.017, OR = 18.2).

Endocrine function over time in patients with myotonic dystrophy type 1

“…Antonini et al . investigated hypogonadism and erectile function in 30 men with DM1 and found hypogonadism in 60%. Almost 90% of the hypogonadal men had erectile dysfunction compared with 42% of those who were eugonadic.…”

Muscular Dystrophies at Different Ages: Metabolic and Endocrine Alterations

“…Endocrine abnormities have been reported in MD2 and MD1 patients (Figure 4), including the alteration in testicular function such as hypogonadism leading to oligospermia [91], low levels of testosterone (T), and reduced spermatogenesis [92], resulting in reduced male fertility. In fact, hypogonadism may be a cause for erectile dysfunction (ED), which has been demonstrated in 25% of patients with MD1 [93].…”

“…Testicles of MD1 patients are characterized by an increase in the number and size of Leydig cells as well as tubular atrophy, hyalinization, fibrosis of the seminiferous tubules and reduced spermatogenesis. It has been reported that 46% of MD1 patients show hormonal evidence of interstitial gonadal failure [97, 99]. …”

Vitamin D deficiency in myotonic dystrophy type 1

“…DM1 is a multi-systemic disorder affecting skeletal muscle, with myotonia and prominent muscle weakness and atrophy, as well as eye, heart, endocrine, and central nervous systems. Abnormal levels of steroid hormones, such as testosterone and DHEA have been reported in DM1 [1][2][3]. Moreover, recent studies showed that in DM1 patients there is an increased risk of calcium metabolism disorders such as hyperparathyroidism that seem to correlate with CTG expansion size [1].…”