Evidence map›Paper›PMID 31786795›Full record

ArticleJournal of endocrinological investigation2020

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

M Spaziani, A Semeraro, E Bucci, F Rossi, M Garibaldi, M A Papassifachis, C Pozza, A Anzuini, A Lenzi, G Antonini and 1 more

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Article in Journal of endocrinological investigation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

15 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Use of HSALab animal · 2025
    Article
  6. Isolated hypoprolactinemia: The rarest of the rare?Reviews in endocrine & metabolic disorders · 2024
    Review
  7. Article
  8. Review
  9. Article
  10. Article
  11. Article
  12. Metabolic Alterations in Myotonic Dystrophy Type 1 and Their Correlation with Lipin.International journal of environmental research and public health · 2021
    Review
  13. Article
  14. Article
  15. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

M SpazianiDepartment of Experimental Medicine, Section of Medical Pathophysiology, Food Science and Endocrinology, Policlinico Umberto I, Sapienza University of Rome, Level - 1, Room 33, Rome, Italy. matteo.spaziani@uniroma1.it.ORCID http://orcid.org/0000-0001-5645-5766
A SemeraroDepartment of Experimental Medicine, Section of Medical Pathophysiology, Food Science and Endocrinology, Policlinico Umberto I, Sapienza University of Rome, Level - 1, Room 33, Rome, Italy.
E BucciDepartment of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy.
F RossiDepartment of Experimental Medicine, Section of Medical Pathophysiology, Food Science and Endocrinology, Policlinico Umberto I, Sapienza University of Rome, Level - 1, Room 33, Rome, Italy.
M GaribaldiDepartment of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy.
M A PapassifachisDepartment of Experimental Medicine, Section of Medical Pathophysiology, Food Science and Endocrinology, Policlinico Umberto I, Sapienza University of Rome, Level - 1, Room 33, Rome, Italy.
C PozzaCentre for Rare Diseases, Policlinico Umberto I, Rome, Italy.
A AnzuiniDepartment of Experimental Medicine, Section of Medical Pathophysiology, Food Science and Endocrinology, Policlinico Umberto I, Sapienza University of Rome, Level - 1, Room 33, Rome, Italy.
A LenziDepartment of Experimental Medicine, Section of Medical Pathophysiology, Food Science and Endocrinology, Policlinico Umberto I, Sapienza University of Rome, Level - 1, Room 33, Rome, Italy.
G AntoniniDepartment of Neurosciences, Mental Health and Sensory Organs (NESMOS), Sapienza University of Rome, Rome, Italy.
A F RadicioniDepartment of Experimental Medicine, Section of Medical Pathophysiology, Food Science and Endocrinology, Policlinico Umberto I, Sapienza University of Rome, Level - 1, Room 33, Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

purposeMyotonic 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

methodsRetrospective, 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.

resultsFT3 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.

conclusionsThe high frequency of endocrine and metabolic abnormalities in DM1 highlights the importance of endocrine monitoring to enable the prompt initiation of a suitable therapy.

Indexed as

AdolescentAdrenocorticotropic HormoneAdultAgedAge FactorsBlood GlucoseCase-Control StudiesFemaleFollicle Stimulating HormoneHumansHydrocortisoneInhibinsLuteinizing HormoneMaleMiddle AgedMyotonic DystrophyAdrenocorticotropic HormoneBlood GlucoseFollicle Stimulating HormoneHydrocortisoneinhibin BInhibinsLuteinizing HormoneProlactinTestosteroneThyroglobulinThyroxineTriiodothyronineEndocrine functionLiver functionMetabolic impairmentMulti-systemic involvementMyotonic dystrophy type 1Steinert’s disease

Identifiers

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.