Epigenetic and transcriptomic consequences of excess X‐chromosome material in 47, XXX syndrome—A comparison with Turner syndrome and 46, XX females

2020 ◽  
Vol 184 (2) ◽  
pp. 279-293
Author(s):  
Morten Muhlig Nielsen ◽  
Christian Trolle ◽  
Søren Vang ◽  
Henrik Hornshøj ◽  
Anne Skakkebæk ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
X Chromosome ◽  
Chromosome Material

scholarly journals Severe haemophilia a in a preterm girl with turner syndrome - a case report from the prenatal period to early infancy (part I)

2020 ◽  
Vol 46 (1) ◽  
Author(s):  
Agnieszka Berendt ◽  
Monika Wójtowicz-Marzec ◽  
Barbara Wysokińska ◽  
Anna Kwaśniewska
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Diagnostic Procedures ◽  
Haemophilia A ◽  
Severe Haemophilia ◽  
Preterm Children ◽  
Initial Symptoms ◽  
The Central Nervous System

Abstract Background Bleedings are more frequent in the population of preterm children than among those born at term, much less in older children. The reasons for such bleedings in preterms include plasma factor deficiencies, immaturity of small vessels in the germinal matrix region, prenatal hypoxia or sepsis. They affect the brain tissue, the gastrointestinal tract and the respiratory system, or are manifested by prolonged bleedings from injection sites. Haemophilia is a rare cause of haemorrhages in the neonatal period, and in the female population it is even seen as an extremely rare disorder. Its aetiology in girls is diverse: inheriting defective genes from their parents, skewed X inactivation or a single X chromosome. Case presentation The article presents a case of a preterm girl born in the 28th week of pregnancy, who was diagnosed with severe haemophilia A stemming from the absence of the X chromosome. The girl’s father is healthy, but her mother’s brother suffers from haemophilia. On the second day of the child’s life, a prolonged bleeding from the injection site was observed. A coagulation profile revealed prolonged APTT which pointed to haemophilia A diagnosis. Moreover, a marked clinical dysmorphy, female sex and a negative family history on the father’s side led the treating team to extend the diagnostic procedures to encompass karyotype evaluation. The girl was diagnosed with Turner syndrome. No bleeding to the central nervous system was observed during her hospital stay. Conclusions Preterm children belong to the risk group of bleeding into the central nervous system or haemorrhages in the course of sepsis. Rare causes of such bleedings should also be borne in mind, including haemophilia. The initial symptoms of haemophilia in preterm children occur in the first days of their lives, which is connected with a number of invasive procedures required in that period. Genetic conditions may coexist with one another. Arriving at one diagnosis does not mean one should abandon further diagnostic procedures in cases where additional atypical symptoms are present which do not match the clinical image of a primary disease.

scholarly journals The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Seyedetahere Mousavi ◽  
Batool Amiri ◽  
Saidee Beigi ◽  
Mohammadreza Farzaneh
Keyword(s):  
Case Report ◽  
Standard Deviation ◽  
Physical Examination ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Diagnostic Errors ◽  
Height Velocity ◽  
Target Height ◽  
Simple Method

Abstract Introduction Turner syndrome is a genetic disorder in females and is the result of complete or partial loss of an X chromosome during fertilization. The missing X chromosome is originally either from the mother's ovum or the father's sperm cell. Approximately 45% of patients have the 45,X karyotype and the rest have other variants of Turner syndrome, which are either mosaicism patterns or structural abnormalities of the X chromosome. Here, we report a case of Turner syndrome that is the fifth case of Turner syndrome with balanced Robertsonian translocation of (13;14)(q10;q10), and the sixth case with 44,X chromosomes, reported in the literature thus far. Case presentation A 10.3-year-old Persian girl was brought to our clinic by her parents, with the complaint of failure to thrive and short height. She had been examined and investigated by endocrinologists since the age of 4 years, but no definite diagnosis was made. At the time of presentation, she had been through three provocative growth hormone tests and had been on no medications for about a year. Her physical examination revealed mild retrognathia and micrognathia. Initially, she was started on somatropin treatment which, after 12 months, did not appropriately improve her height velocity. Therefore, a more thorough physical examination was performed, in which high arched palate and low posterior hairline were observed. There was also a difference between target height and patient height standard deviation scores. Karyotype study was requested, and Turner syndrome was confirmed. Conclusion The diagnosis of this case was not straightforward, both because the somatic presentations were not obvious, and because the physicians had not looked for them when performing the physical examinations. This case report introduces a rare 44,X chromosome karyotype of Turner syndrome and highlights the value in using the difference between target height and patient height standard deviation scores as a simple and inexpensive tool for diagnosis of this syndrome.

scholarly journals Clinical Significance of the Parental Origin of the X Chromosome in Turner Syndrome

2007 ◽  
Vol 92 (3) ◽  
pp. 846-852 ◽  
Author(s):  
Liora Sagi ◽  
Nehama Zuckerman-Levin ◽  
Aneta Gawlik ◽  
Lucia Ghizzoni ◽  
Atilla Buyukgebiz ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Clinical Significance ◽  
X Chromosome ◽  
Parental Origin

scholarly journals Congenital Hyperinsulinism in Infants with Turner Syndrome: Possible Association with Monosomy X and KDM6A Haploinsufficiency

2018 ◽  
Vol 89 (6) ◽  
pp. 413-422 ◽  
Author(s):  
Christopher E. Gibson ◽  
Kara E. Boodhansingh ◽  
Changhong Li ◽  
Laura Conlin ◽  
Pan Chen ◽  
...  
Keyword(s):  
Insulin Secretion ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Case Reports ◽  
Cytosolic Calcium ◽  
Congenital Hyperinsulinism ◽  
Kabuki Syndrome ◽  
Expected Frequency ◽  
Molecular Features ◽  
Mouse Islets

Background: Previous case reports have suggested a possible association of congenital hyperinsulinism with Turner syndrome. Objective: We examined the clinical and molecular features in girls with both congenital hyperinsulinism and Turner syndrome seen at The Children’s Hospital of Philadelphia (CHOP) between 1974 and 2017. Methods: Records of girls with hyperinsulinism and Turner syndrome were reviewed. Insulin secretion was studied in pancreatic islets and in mouse islets treated with an inhibitor of KDM6A, an X chromosome gene associated with hyperinsulinism in Kabuki syndrome. Results: Hyperinsulinism was diagnosed in 12 girls with Turner syndrome. Six were diazoxide-unresponsive; 3 had pancreatectomies. The incidence of Turner syndrome among CHOP patients with hyperinsulinism (10 of 1,050 from 1997 to 2017) was 48 times more frequent than expected. The only consistent chromosomal anomaly in these girls was the presence of a 45,X cell line. Studies of isolated islets from 1 case showed abnormal elevated cytosolic calcium and heightened sensitivity to amino acid-stimulated insulin release; similar alterations were demonstrated in mouse islets treated with a KDM6A inhibitor. Conclusion: These results demonstrate a higher than expected frequency of Turner syndrome among children with hyperinsulinism. Our data suggest that haploinsufficiency for KDM6A due to mosaic X chromosome monosomy may be responsible for hyperinsulinism in Turner syndrome.

P2244Anomalies in women of the aortic arch in Turner syndrome as an important risk factor for premature morbidity and mortality

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
E Klaskova ◽  
S Kapralova ◽  
J Zapletalova ◽  
Z Tudos ◽  
K Adamova
Keyword(s):  
Risk Factor ◽  
Aortic Arch ◽  
Cell Line ◽  
Turner Syndrome ◽  
Subclavian Artery ◽  
X Chromosome ◽  
Coarctation Of The Aorta ◽  
Aberrant Right Subclavian Artery ◽  
Structural Abnormality ◽  
Study Group

Abstract Introduction Turner syndrome (TS) represents the most common chromosomal disorder in women being, caused by the absence or structural abnormality of X chromosome. Congenital heart defects affect up to 50% of females with TS.Prevalence of coarctation of the aorta in TS has been estimated 7–18% depending on imaging method. Introduction of cardiac magnetic resonance imaging (MRI) into the routine practice markedly increased the detection rate of anomalies of the aortic arch such as elongated transverse aortic arch with abnormal curvature, i.e.kinking, pseudocoarctation or aberrant right subclavian artery. Aims of study was to estimate prevalence of anomalies of the aortic arch in our study group according to the karyotype. Methods and patients Study group consisted of 67 patients with TS at the age 7.3 yrs (range 0.1 - 16.5 yrs.). Complete cardiovascular examination (echocardiography, MRI of the heart and great vessels) and cytogenetic examination were performed in each of our study patient. Results The prevalence of anomalies of the aortic arch was 15% (10 patients). Four of them had elongated transverse aortic, coarctation of the aorta was found in three cases, aberrant right subclavian artery in two patients and one girl had right aortic arch. 45,X cell line was presented in every patient with anomaly of the aortic arch, none of them had structural abnormality of X chromosome. Conclusions Compared with the general population, the prevalence of CoA and the others anomalies of the aortic arch is significantly higher in women with TS, especially with 45,X cell line. As far as CoA is considered to be one of the major risk factor for aortic dissection detailed cardiovascular screening focused on thoracic aorta anomalies seems to be crucial in order to prevent it. Acknowledgement/Funding Supported by Ministry of Health, Czech Republic - MZ VES 2017 (Reg. No. NV17-29111A).

An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome

2019 ◽  
Vol 32 (5) ◽  
pp. 479-488 ◽  
Author(s):  
Judith Stoklasova ◽  
Jirina Zapletalova ◽  
Zdenek Frysak ◽  
Vaclav Hana ◽  
Jan Cap ◽  
...  
Keyword(s):  
Autoimmune Diseases ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Clinical Course ◽  
Classification Systems ◽  
Autoimmune Thyroid ◽  
Xp Deletion ◽  
The Mean ◽  
Immune Related Genes ◽  
Estrogen Administration

Abstract 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.

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