title: Gonadal failure is associated with visceral adiposity in myotonic dystrophies.
abstract: 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.
  
  
  METHODS
  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.
authors.affiliation: Endocrinology Unit, Department of Biomedical Sciences for Health, University of Milan, IRCCS Policlinico San Donato, San Donato, Milanese, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Passeri
authors.affiliation: Neurology Unit, Department of Biomedical Sciences for Health, University of Milan, IRCCS Policlinico San Donato, San Donato, Milanese, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bugiardini
authors.affiliation: Department of Biomedical Sciences for Health, NEuroMuscular Omnicentre (NEMO), Fondazione Serena Onlus, University of Milan, Milan, Italy.
authors.forename: Valeria A
authors.initials: VA
authors.lastname: Sansone
authors.affiliation: Urology Unit, IRCCS Istituto Clinico Humanitas, Rozzano, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pizzocaro
authors.affiliation: Clinical Chemistry Laboratory, IRCCS Policlinico San Donato, Milanese, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Fulceri
authors.affiliation: Molecular Medicine Laboratory, IRCCS Policlinico San Donato, Milanese, Italy.
authors.forename: Rea
authors.initials: R
authors.lastname: Valaperta
authors.affiliation: Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Borgato
authors.affiliation: Clinical Chemistry Laboratory, IRCCS Policlinico San Donato, Milanese, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Costa
authors.affiliation: Heart Failure Unit, IRCCS Policlinico San Donato, Milanese, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Bandera
authors.affiliation: Endocrinology Unit, Department of Biomedical Sciences for Health, University of Milan, IRCCS Policlinico San Donato, San Donato, Milanese, Italy.
authors.forename: Bruno
authors.initials: B
authors.lastname: Ambrosi
authors.affiliation: Neurology Unit, Department of Biomedical Sciences for Health, University of Milan, IRCCS Policlinico San Donato, San Donato, Milanese, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Meola
authors.affiliation: Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.|Department of Clinical Science and Community Health, University of Milan, Milan, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Persani
authors.affiliation: Endocrinology Unit, Department of Biomedical Sciences for Health, University of Milan, IRCCS Policlinico San Donato, San Donato, Milanese, Italy.
authors.forename: Sabrina
authors.initials: S
authors.lastname: Corbetta
mesh_terms: D015502:Absorptiometry, Photon; D000328:Adult; D054304:Anti-Mullerian Hormone / Q000378:metabolism; D015415:Biomarkers / Q000378:metabolism; D016022:Case-Control Studies; D006801:Humans; D007006:Hypogonadism / Q000097:blood / Q000150:complications*; D007265:Inhibins / Q000378:metabolism; D007328:Insulin / Q000378:metabolism; D050152:Intra-Abdominal Fat / Q000502:physiology*; D007985:Leydig Cells / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D053580:Muscle Strength / Q000502:physiology; D018482:Muscle, Skeletal; D009223:Myotonic Dystrophy / Q000097:blood / Q000150:complications*; D056128:Obesity, Abdominal / Q000097:blood / Q000209:etiology*; D011506:Proteins / Q000378:metabolism; D012708:Sertoli Cells / Q000378:metabolism
chemical_list: D015415:Biomarkers; D007328:Insulin; C084797:Leydig insulin-like protein; D011506:Proteins; C422364:inhibin B; D007265:Inhibins; D054304:Anti-Mullerian Hormone
keywords: Hypogonadism; leydig cell; myotonic dystrophies; sertoli cell