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Chromosomal Aberrations with Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome).
Exp Suppl 2019; 111:443-473ES

Abstract

Turner and Klinefelter syndromes are the most common chromosome abnormalities compatible with life. Prader-Willi syndrome is a complex multisystem imprinting disorder characterized by hypothalamic dysfunction, neurological implications, and psychiatric disturbances. All three conditions are associated with progressively increasing risk for metabolic and autoimmune morbidity and mortality. This chapter focuses on the endocrine aspects of these syndromes and recent discoveries based on epigenetics and gene expression studies that have broadened our understanding of their extensive phenotypic variability and heterogeneous comorbidities.

Authors+Show Affiliations

Faculty of Medicine, 2nd Department of Pediatrics, Semmelweis University, Budapest, Hungary. haltrich.iren@med.semmelweis-univ.hu.

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

31588543

Citation

Haltrich, Irén. "Chromosomal Aberrations With Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome)." Experientia Supplementum (2012), vol. 111, 2019, pp. 443-473.
Haltrich I. Chromosomal Aberrations with Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome). Exp Suppl. 2019;111:443-473.
Haltrich, I. (2019). Chromosomal Aberrations with Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome). Experientia Supplementum (2012), 111, pp. 443-473. doi:10.1007/978-3-030-25905-1_20.
Haltrich I. Chromosomal Aberrations With Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome). Exp Suppl. 2019;111:443-473. PubMed PMID: 31588543.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Chromosomal Aberrations with Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome). A1 - Haltrich,Irén, PY - 2019/10/8/entrez PY - 2019/10/8/pubmed PY - 2019/10/8/medline KW - Autoimmune disease KW - Chromosomal aberration KW - Gene expression KW - Hypothyroidism KW - Imprinting disorder KW - Infertility KW - Klinefelter syndrome KW - Methylation KW - Prader-Willi syndrome KW - Turner syndrome SP - 443 EP - 473 JF - Experientia supplementum (2012) JO - Exp Suppl VL - 111 N2 - Turner and Klinefelter syndromes are the most common chromosome abnormalities compatible with life. Prader-Willi syndrome is a complex multisystem imprinting disorder characterized by hypothalamic dysfunction, neurological implications, and psychiatric disturbances. All three conditions are associated with progressively increasing risk for metabolic and autoimmune morbidity and mortality. This chapter focuses on the endocrine aspects of these syndromes and recent discoveries based on epigenetics and gene expression studies that have broadened our understanding of their extensive phenotypic variability and heterogeneous comorbidities. SN - 1664-431X UR - https://www.unboundmedicine.com/medline/citation/31588543/Chromosomal_Aberrations_with_Endocrine_Relevance_(Turner_Syndrome,_Klinefelter_Syndrome,_Prader-Willi_Syndrome) DB - PRIME DP - Unbound Medicine ER -