Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case–control study
Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by CTG expansion in the DMPK gene. The aim was to investigate the endocrine and metabolic aspects of DM1.
Patients and methods
Retrospective, case–control study. We compared pituitary, thyroid, adrenal, gonadal and liver function and glycolipid metabolism of 63 DM1 patients against 100 control subjects. Given age-related differences, 2 further subgroups were created to investigate the pituitary–gonadal axis: < 41 (1a) and ≥ 41 (1b) years old for male subjects and < 46 (2a) and ≥ 46 (2b) years old for female subjects. Testicular and thyroid ultrasounds were also performed in the DM1 group.
FT3 and FT4 were significantly lower in DM1 men than controls, while for both males and females, thyroglobulin, ACTH and cortisol were significantly higher in the DM1 group. Gonadotropin levels were significantly higher and inhibin B and DHEA-S levels significantly lower in DM1 patients than controls for both male subgroups. Testosterone and SHBG were significantly higher in controls than in patients for subgroup 1a. Prolactin was significantly higher in patients in subgroups 1b, while testosterone was lower in subgroup 2a than in age-matched female controls. A correlation between the number of CTG repeats and the percentage of male hypogonadal subjects was found. Finally, there was a worse glucose and lipid pattern and significantly higher transaminase and gamma-GT levels in both male and female patients.
The high frequency of endocrine and metabolic abnormalities in DM1 highlights the importance of endocrine monitoring to enable the prompt initiation of a suitable therapy.
KeywordsSteinert’s disease Myotonic dystrophy type 1 Multi-systemic involvement Endocrine function Metabolic impairment Liver function
The authors would like to thank Marie-Hélène Hayles MITI for the language revision.
This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
The study has been performed in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards.The study was approved by the Policlinico Umberto I Ethics Committee (Sapienza University of Rome).
Informed consent was obtained from all individual participants included in the study.
- 1.Harper PS (2001) Myotonic dystrophy. Monckton DG, LondonGoogle Scholar
- 19.Spaziani M, Mileno B, Rossi F, Granato S, Tahani N, Anzuini A, Lenzi A, Radicioni AF (2018) Endocrine and metabolic evaluation of classic Klinefelter syndrome and high grade aneuploidies of sexual chromosomes with male phenotype: are they different clinical conditions? Eur J Endocrinol 178:1–10CrossRefGoogle Scholar
- 20.Radicioni AF, Tahani N, Spaziani M, Anzuini A, Piccheri C, Semeraro A, Tarani L, Lenzi A (2013) Reference ranges for thyroid hormones in normal Italian children and adolescents and overweight adolescents. J Endocrinol Investig 36(5):326–330Google Scholar
- 42.Francomano D, Fattorini G, Gianfrilli D, Paoli D, Sgrò P, Radicioni A, Romanelli F, Di Luigi L, Gandini L, Lenzi A, Aversa A (2016) Acute endothelial response to testosterone gel administration in men with severe hypogonadism and its relationship to androgen receptor polymorphism: a pilot study. J Endocrinol Invest 39(3):265–271PubMedCrossRefGoogle Scholar
- 50.Dogan C, De Antonio M, Hamroun D, Varet H, Fabbro M, Rougier F, Amarof K et al (2016) Gender as a modifying factor influencing myotonic dystrophy type 1 phenotype severity and mortality: a nationwide multiple databases cross-sectional observational study. PLoS One 11(2):e0148264PubMedPubMedCentralCrossRefGoogle Scholar