Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case–control study

Purpose 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 a...

Full description

Saved in:
Bibliographic Details
Published in:Journal of endocrinological investigation 2020-05, Vol.43 (5), p.663-675
Main Authors: Spaziani, M., Semeraro, A., Bucci, E., Rossi, F., Garibaldi, M., Papassifachis, M. A., Pozza, C., Anzuini, A., Lenzi, A., Antonini, G., Radicioni, A. F.
Format: Article
Language:English
Subjects:
Adolescent
Adrenocorticotropic hormone
Adrenocorticotropic Hormone - blood
Adult
Age Factors
Aged
Blood Glucose
Case-Control Studies
Cortisol
Dehydroepiandrosterone
DMPK protein
Endocrinology
Female
Follicle Stimulating Hormone - blood
Gender differences
Genetic disorders
Gonadotropins
Humans
Hydrocortisone - blood
Inhibin
Inhibins - blood
Internal Medicine
Luteinizing Hormone - blood
Male
Medicine
Medicine & Public Health
Metabolic Diseases
Metabolism
Middle Aged
Myotonic dystrophy
Myotonic Dystrophy - blood
Myotonic Dystrophy - diagnostic imaging
Original Article
Pituitary
Pituitary (anterior)
Prolactin
Prolactin - blood
Retrospective Studies
Sex Characteristics
Sex differences
Sex Factors
Testis - diagnostic imaging
Testosterone
Testosterone - blood
Thyroglobulin
Thyroglobulin - blood
Thyroid
Thyroid gland
Thyroid Gland - diagnostic imaging
Thyroxine - blood
Transaminase
Triiodothyronine - blood
Trinucleotide repeat diseases
Ultrasonography
Young Adult
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Purpose 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: 
ISSN:1720-8386
0391-4097
1720-8386
DOI:10.1007/s40618-019-01156-w