Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype

NCT05425953 | Unknown

• 1 other identifier: EMKI SCA
• Study Type: observational
• Target: 320
• Locations: 1 country
• Sites: 1

Brief Summary

Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns. The goal is to associated genotype and epigenetic changes with the phenotype of patients with sex-chromosome abnormalities. Patients participate in questionaries, dexa-scan of bones, fibroscan of liver, ultra sound of testicles and blood will be analyzed for organ specific blood work as well as immunological and coagulation components.

Conditions

Sex Chromosome Abnormality; Klinefelter Syndrome; Turner Syndrome; Metabolic Disease; Cardiovascular Diseases; Immunologic Disease

Outcome Measures

Primary Outcomes (1)

• Epigenetic changes relate to phenotype

  Epigenetic changes relate to phenotype

  2½ years

Secondary Outcomes (1)

• Immunologic changes in turner syndrom

  2 years

Study Arms (6)

Klinefelter syndrome

Patients with 47, XXY n=60

Other: No intervention other than obtaining biopsies

Turner syndrom

Patients with 45, X n=60

Other: No intervention other than obtaining biopsies

47, XXX

Patients with 47, XXX n=20

Other: No intervention other than obtaining biopsies

47, XYY

Patients with 47, XYY n=20

Other: No intervention other than obtaining biopsies

Male controls

Male controls n=80

Other: No intervention other than obtaining biopsies

Female controls

Female controls n=80

Other: No intervention other than obtaining biopsies

Interventions

No intervention other than obtaining biopsies OTHER

Biopsies will be obtained.

47, XXX; 47, XYY; Female controls; Klinefelter syndrome; Male controls; Turner syndrom

Eligibility Criteria

• Age: 18 Years - 90 Years
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Probability Sample

Study Population

Study population are danish participants.

You may qualify if:

• Participants must have the sex-chromosome abnormality

Sponsors & Collaborators

• University of Aarhus: lead
• Aarhus University Hospital: collaborator

Study Sites (1)

Aarhus university hospital

Aarhus, Region Midt, 8000, Denmark

RECRUITING

Related Publications (9)

• Roulot D, Degott C, Chazouilleres O, Oberti F, Cales P, Carbonell N, Benferhat S, Bresson-Hadni S, Valla D. Vascular involvement of the liver in Turner's syndrome. Hepatology. 2004 Jan;39(1):239-47. doi: 10.1002/hep.20026.

  PMID: 14752843 BACKGROUND

• Gravholt CH, Chang S, Wallentin M, Fedder J, Moore P, Skakkebaek A. Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology. Endocr Rev. 2018 Aug 1;39(4):389-423. doi: 10.1210/er.2017-00212.

  PMID: 29438472 BACKGROUND

• de Vos WM, Tilg H, Van Hul M, Cani PD. Gut microbiome and health: mechanistic insights. Gut. 2022 May;71(5):1020-1032. doi: 10.1136/gutjnl-2021-326789. Epub 2022 Feb 1.

  PMID: 35105664 BACKGROUND

• Berglund A, Viuff MH, Skakkebaek A, Chang S, Stochholm K, Gravholt CH. Changes in the cohort composition of turner syndrome and severe non-diagnosis of Klinefelter, 47,XXX and 47,XYY syndrome: a nationwide cohort study. Orphanet J Rare Dis. 2019 Jan 14;14(1):16. doi: 10.1186/s13023-018-0976-2.

  PMID: 30642344 RESULT

• Gravholt CH, Juul S, Naeraa RW, Hansen J. Prenatal and postnatal prevalence of Turner's syndrome: a registry study. BMJ. 1996 Jan 6;312(7022):16-21. doi: 10.1136/bmj.312.7022.16.

  PMID: 8555850 RESULT

• Elsheikh M, Hodgson HJ, Wass JA, Conway GS. Hormone replacement therapy may improve hepatic function in women with Turner's syndrome. Clin Endocrinol (Oxf). 2001 Aug;55(2):227-31. doi: 10.1046/j.1365-2265.2001.01321.x.

  PMID: 11531930 RESULT

• Gravholt CH, Poulsen HE, Ott P, Christiansen JS, Vilstrup H. Quantitative liver functions in Turner syndrome with and without hormone replacement therapy. Eur J Endocrinol. 2007 Jun;156(6):679-86. doi: 10.1530/EJE-07-0070.

  PMID: 17535868 RESULT

• Ahmed S, Spence JD. Sex differences in the intestinal microbiome: interactions with risk factors for atherosclerosis and cardiovascular disease. Biol Sex Differ. 2021 May 17;12(1):35. doi: 10.1186/s13293-021-00378-z.

  PMID: 34001264 RESULT

• Org E, Mehrabian M, Parks BW, Shipkova P, Liu X, Drake TA, Lusis AJ. Sex differences and hormonal effects on gut microbiota composition in mice. Gut Microbes. 2016 Jul 3;7(4):313-322. doi: 10.1080/19490976.2016.1203502. Epub 2016 Jun 29.

  PMID: 27355107 RESULT

Biospecimen

Retention: SAMPLES WITH DNA

Biopsies from skin, muscle, fat, urine, buccal swaps and blood will be analysed for DNA and RNA

MeSH Terms

Conditions

Sex Chromosome Aberrations; Klinefelter Syndrome; Turner Syndrome; Metabolic Diseases; Cardiovascular Diseases; Immune System Diseases

Condition Hierarchy (Ancestors)

Chromosome Aberrations; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Sex Chromosome Disorders of Sex Development; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases; Hypogonadism; Gonadal Dysgenesis; Heart Defects, Congenital; Cardiovascular Abnormalities; Heart Diseases; Nutritional and Metabolic Diseases

Study Officials

• Claus Gravholt, Prof

  Aarhus University Hospital

  STUDY DIRECTOR

Central Study Contacts

Lukas O Ridder, MD

CONTACT

25337447; Lukrid@clin.au.dk

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: June 15, 2022
• First Posted: June 21, 2022
• Study Start: June 13, 2022
• Primary Completion: May 1, 2025
• Study Completion: May 1, 2025
• Last Updated: November 29, 2023

Record last verified: 2023-11

Data Sharing

• IPD Sharing: Will not share

Locations

DK (1)