Chromosomal Aberrations with Endocrine Relevance (Turner Syndrome, Klinefelter Syndrome, Prader-Willi Syndrome)

  • Irén HaltrichEmail author
Part of the Experientia Supplementum book series (EXS, volume 111)


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.


Turner syndrome Klinefelter syndrome Prader-Willi syndrome Autoimmune disease Hypothyroidism Infertility Chromosomal aberration Imprinting disorder Gene expression Methylation 

List of Abbreviations


A-kinase anchoring protein 17A




Angelman syndrome


Autism spectrum disorder


ATPase phospholipid transporting 10A


Bone mineral density

BP1, BP2, BP3

Breakpoint 1, 2, 3


Central adrenal insufficiency


T-cell adhesion molecule


Cannabinoid receptor 1


Colony-stimulating factor 2 receptor


Cytoplasmic FMR1 interacting protein 1


Dishevelled binding antagonist of beta catenin 1


Diabetes mellitus

DOCK1, 7

Dedicator of cytokinesis 1, 7


Deep vein thrombosis


Eukaryotic translation initiation factor 2 subunit gamma


Fidgetin-like 1


Fluorescence in situ hybridization


Follicle-stimulating hormone


Stress granule assembly factor 1


Growth hormone deficiency


Growth hormone


HECT and RLD domain containing E3 ubiquitin protein ligase 2


isoXq chromosome


Imprinting center


Imprinting defects


Receptor for interleukin-3


In vitro fertilization-embryo transfer


Transcript, XIST activator


KN motif and ankyrin repeat domains 1


Lysine demethylase 6A


Klinefelter syndrome


Lectin galactoside-binding soluble 1


Luteinizing hormone


Mediastinal germ cell tumors


MAGE family member L2


Maternal uniparental disomy


Makorin ring finger protein 3


Methylation-specific multiplex-ligation probe amplification


Necdin, MAGE family member

NIPA1, 2

NIPA magnesium transporter 1, 2


Nuclear pore-associated protein 1


Nuclear receptor-binding SET domain protein 1

PEX 10

Peroxisomal biogenesis factor 10


Peptidylprolyl cis/trans isomerase, NIMA-interacting 4


Premature ovarian failure


Protein kinase X-linked


Prader-Willi syndrome


Fragile X mental retardation 1


Ribosomal protein S4 X-linked


R-Spondin 1


Sex chromosomal aneuploidy


Short stature homeobox


Shroom family member 2


Solute carrier family 25 member 6


SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 1


Small nucleolar RNAs


Small nuclear ribonucleoprotein polypeptide N


SNRPN upstream reading frame

SOX3, 9

SRY-box 3, 9


Testosterone replacement therapy


TSC22 Domain family member 3


Turner syndrome


Tubulin gamma complex associated protein 5


Taxilin gamma


Ubiquitin protein ligase E3A


Ubiquitin-specific peptidase 9 X-linked


Vestigial-like family member 1


Wnt family member 4


Linked inhibitor of apoptosis


Inactive specific transcript


Zinc finger FYVE-type containing


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© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Faculty of Medicine, 2nd Department of PediatricsSemmelweis UniversityBudapestHungary

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