PMID- 31075085
OWN - NLM
STAT- MEDLINE
DCOM- 20190913
LR  - 20190913
IS  - 2191-0251 (Electronic)
IS  - 0334-018X (Linking)
VI  - 32
IP  - 5
DP  - 2019 May 27
TI  - An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome.
PG  - 479-488
LID - 10.1515/jpem-2019-0067 [doi]
LID - /j/jpem.2019.32.issue-5/jpem-2019-0067/jpem-2019-0067.xml [pii]
AB  - Background Females with Turner syndrome (TS) are prone to develop autoimmune
      diseases (AIDs). The X chromosome contains several immune-related genes. Growth
      hormone (GH) and estrogens modulate the immune system. We aimed to clarify
      whether the loss of a specific X chromosome gene locus and the administration of 
      GH and estradiol facilitate the development of AIDs in TS females. Methods
      Retrospective data on clinical course, AIDs, karyotype and treatment were
      analyzed from a cohort of 286 Czech females with TS (current age 2.8-43.3 years; 
      median age 18.7 years). The karyotypes were sorted using two different
      classification systems: a mosaicism-focused and an isochromosome (isoXq)-focused 
      approach. Karyotype subgroups with a significantly higher prevalence of AIDs were
      further evaluated. Data of common therapies were correlated with the prevalence
      of AIDs. Results The most frequent AIDs were autoimmune thyroid disease (AITD;
      37.4%; n = 107) and celiac disease (CD; 8.7%; n = 25). All karyotype subgroups
      were prone to develop AIDs. Females with an isolated Xp deletion had a
      significantly higher prevalence of AITD and CD compared to all other individuals 
      with TS (AITD: 66.0% vs. 31.5%, p < 0.0001; CD: 17.4% vs. 7.2%; p = 0.04,
      respectively). We observed no link between the mean age at initiation as well as 
      the duration of GH and/or estrogen administration and the occurrence of AIDs.
      Conclusions Isolated Xp deletion contributes to the development of AIDs in TS
      patients. The haploinsufficiency of genes located in Xpter-p11.2 may explain this
      observation. Common therapies used in TS do not modify the risk of AIDs.
FAU - Stoklasova, Judith
AU  - Stoklasova J
AD  - Department of Pediatrics, Second Faculty of Medicine, Charles University and
      Motol University Hospital, Prague, Czech Republic.
FAU - Zapletalova, Jirina
AU  - Zapletalova J
AD  - Department of Pediatrics, Faculty of Medicine and Dentistry, Palacky University
      and Olomouc University Hospital, Olomouc, Czech Republic.
FAU - Frysak, Zdenek
AU  - Frysak Z
AD  - Department of Internal Medicine, Faculty of Medicine and Dentistry, Palacky
      University and Olomouc University Hospital, Olomouc, Czech Republic.
FAU - Hana, Vaclav
AU  - Hana V
AD  - 3rd Department of Internal Medicine, First Faculty of Medicine, Charles
      University and General University Hospital, Prague, Czech Republic.
FAU - Cap, Jan
AU  - Cap J
AD  - Department of Internal Medicine, Faculty of Medicine in Hradec Kralove, Charles
      University and Hradec Kralove University Hospital, Hradec Kralove, Czech
      Republic.
FAU - Pavlikova, Marketa
AU  - Pavlikova M
AD  - Faculty of Mathematics and Physics, Charles University, Prague, Czech Republic.
FAU - Soucek, Ondrej
AU  - Soucek O
AD  - Department of Pediatrics, Second Faculty of Medicine, Charles University and
      Motol University Hospital, Prague, Czech Republic.
FAU - Lebl, Jan
AU  - Lebl J
AD  - Department of Pediatrics, Second Faculty of Medicine, Charles University and
      Motol University Hospital, Prague, Czech Republic.
LA  - eng
PT  - Journal Article
PL  - Germany
TA  - J Pediatr Endocrinol Metab
JT  - Journal of pediatric endocrinology & metabolism : JPEM
JID - 9508900
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Autoimmune Diseases/epidemiology/*etiology
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, X/*genetics
MH  - Czech Republic/epidemiology
MH  - Female
MH  - Follow-Up Studies
MH  - Humans
MH  - Karyotyping
MH  - Prevalence
MH  - Prognosis
MH  - Retrospective Studies
MH  - Turner Syndrome/complications/*genetics
MH  - Young Adult
OTO - NOTNLM
OT  - Turner syndrome
OT  - autoimmune thyroid disease
OT  - celiac disease
OT  - genetics
OT  - isolated Xp deletion
OT  - karyotype
EDAT- 2019/05/11 06:00
MHDA- 2019/09/14 06:00
CRDT- 2019/05/11 06:00
PHST- 2019/02/01 00:00 [received]
PHST- 2019/02/25 00:00 [accepted]
PHST- 2019/05/11 06:00 [entrez]
PHST- 2019/05/11 06:00 [pubmed]
PHST- 2019/09/14 06:00 [medline]
AID - 10.1515/jpem-2019-0067 [doi]
AID - /j/jpem.2019.32.issue-5/jpem-2019-0067/jpem-2019-0067.xml [pii]
PST - ppublish
SO  - J Pediatr Endocrinol Metab. 2019 May 27;32(5):479-488. doi:
      10.1515/jpem-2019-0067.