Elena Passeri1, Enrico Bugiardini2, Valeria A Sansone3, Alessandro Pizzocaro4, Cinzia Fulceri5, Rea Valaperta6, Stefano Borgato7, Elena Costa5, Francesco Bandera8, Bruno Ambrosi1, Giovanni Meola2, Luca Persani7,9, Sabrina Corbetta1. 1. Endocrinology Unit, Department of Biomedical Sciences for Health, University of Milan, IRCCS Policlinico San Donato, San Donato, Milanese, Italy. 2. Neurology Unit, Department of Biomedical Sciences for Health, University of Milan, IRCCS Policlinico San Donato, San Donato, Milanese, Italy. 3. Department of Biomedical Sciences for Health, NEuroMuscular Omnicentre (NEMO), Fondazione Serena Onlus, University of Milan, Milan, Italy. 4. Urology Unit, IRCCS Istituto Clinico Humanitas, Rozzano, Italy. 5. Clinical Chemistry Laboratory, IRCCS Policlinico San Donato, Milanese, Italy. 6. Molecular Medicine Laboratory, IRCCS Policlinico San Donato, Milanese, Italy. 7. Division of Endocrine and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy. 8. Heart Failure Unit, IRCCS Policlinico San Donato, Milanese, Italy. 9. Department of Clinical Science and Community Health, University of Milan, Milan, Italy.
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. 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.
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 hypogonadalpatients (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: M Spaziani; A Semeraro; E Bucci; F Rossi; M Garibaldi; M A Papassifachis; C Pozza; A Anzuini; A Lenzi; G Antonini; A F Radicioni Journal: J Endocrinol Invest Date: 2019-11-30 Impact factor: 4.256
Authors: Tiago Mateus; Filipa Martins; Alexandra Nunes; Maria Teresa Herdeiro; Sandra Rebelo Journal: Int J Environ Res Public Health Date: 2021-02-12 Impact factor: 3.390