Gonadal failure is associated with visceral adiposity in myotonic dystrophies

Elena Passeri, Enrico Bugiardini, Valeria A. Sansone, Alessandro Pizzocaro, Cinzia Fulceri, Rea Valaperta, Stefano Borgato, Elena Costa, Francesco Bandera, Bruno Ambrosi, Giovanni Meola, Luca Persani, Sabrina Corbetta

Research output: Contribution to journalArticlepeer-review


Background: Hypogonadism occurs in myotonic dystrophies type 1 (MD1) and type 2 (MD2). Sertoli and Leydig cell secretions, including insulin-like peptide-3 (INSL3), anti-Müllerian hormone (AMH) and inhibin B, were evaluated in male patients with MD. Design: Academic settings. Forty-four male patients with MD [31 MD1, 13 MD2, aged 59 (50-64) years, median (interquartile range)], age-, sex- and BMI-matched non-MD hypogonadal patients (n = 14) and healthy controls (n = 32). Serum FSH, LH, inhibin B, AMH, testosterone (T) and INSL3 were measured; fat and muscle masses were evaluated by DEXA. Results: Overt primary hypogonadism occurred in 29% of patients with MD1 and 46% of patients with MD2. Considering subclinical forms, the prevalence increased to 69% of MD1 and 100% of MD2. A half of patients with MD experienced symptoms. INSL3 levels were unaffected in most patients with MD. By contrast, AMH and inhibin B were reduced in most patients with MD and unrelated to age. Patients with MD showed increased body and visceral fat. Free T levels were negatively predicted by fat mass, and AMH and FSH levels were negatively correlated with waist/hip ratio and fat mass. AMH, inhibin B and FSH levels positively correlated with muscle strength and muscle mass. Conclusions: AMH and inhibin B secretion failures are common in male patients with MD and are more severe than Leydig cell hormones impairment. AMH and inhibin B measurements might provide clinical utility in evaluating fertility in patients with MD. Serum T, AMH and inhibin B productions are negatively influenced by increased fat mass, while AMH and inhibin B might be markers of muscle impairment.

Original languageEnglish
Pages (from-to)702-710
Number of pages9
JournalEuropean Journal of Clinical Investigation
Issue number7
Publication statusPublished - Jul 1 2015


  • Hypogonadism
  • Leydig cell
  • Myotonic dystrophies
  • Sertoli cell

ASJC Scopus subject areas

  • Medicine(all)
  • Clinical Biochemistry
  • Biochemistry


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