Turner syndrome: mechanisms and management

Gravholt, Claus Højbjerg; Viuff, Mette; Brun, Sara; Stochholm, Kirstine; Andersen, Niels Holmark

doi:10.1038/s41574-019-0224-4

Cited by 226 publications

(263 citation statements)

References 160 publications

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“…However, this condition is also associated with other health issues. It is known that women with Turner syndrome frequently present a range of autoimmune, cardiovascular, endocrine and metabolic disorders . Interestingly, hypothyreosis was temporarily observed in the monosomic mare that we studied with the use of cytogenetic and ddPCR techniques.…”

Section: Discussionmentioning

confidence: 97%

Application of droplet digital PCR in diagnosing of X monosomy in mares

Szczerbal

Nowacka‐Woszuk

Kopp-Kuhlman³

et al. 2020

Equine Veterinary Journal

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Background X monosomy is the most common disorder of sex development in horses. Although cytogenetic analysis is still the gold standard in the diagnosis of equine X monosomy, novel molecular techniques are being sought to quickly and reliably detect this chromosome abnormality. Objectives The goal of this study was to evaluate the usefulness of a novel variant of the PCR technique—namely, droplet digital PCR (ddPCR)—in the detection of X monosomy in mares. Study design A proof of concept of the usefulness of ddPCR in diagnosing an abnormal number of X chromosomes in mares. Methods We examined an infertile mare using cytogenetic (fluorescent in situ hybridisation—FISH) and molecular (droplet digital PCR—ddPCR) techniques. The X chromosome copy number in ddPCR was estimated via detection of the AMELX gene copy number. In addition, 70 mares homozygous for X‐linked microsatellite marker (LEX3) were examined by ddPCR. For all mares, a PCR search for the Y‐linked SRY gene was also performed. Results Cytogenetic analysis and ddPCR gave concordant results, indicating pure X monosomy in the studied mare. Of the 70 additional mares examined by ddPCR, a single copy of the X chromosome was found in two cases. All mares were SRY‐negative and thus both freemartinism, manifested by leucocyte XX/XY chimerism, and sex reversal syndrome (XX, SRY‐positive) could be excluded. Main limitations The ddPCR approach does not allow for unequivocal identification of mosaicism (63,X/64,XX or 65,XXX/64,XX), but may give an indication that further cytogenetic analysis is necessary. Conclusion The ddPCR approach appeared to be useful for diagnosing nonmosaic X monosomy in mares. If the number of X chromosome copies in a mare, as determined by ddPCR, differs from two (in our study, <1.8 or >2.2), additional cytogenetic investigation is recommended with the aim of detecting the mosaicism.

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Section: Discussionmentioning

confidence: 97%

Application of droplet digital PCR in diagnosing of X monosomy in mares

Szczerbal

Nowacka‐Woszuk

Kopp-Kuhlman³

et al. 2020

Equine Veterinary Journal

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“…Cardiac, airway, pulmonary, hearing, growth, hematologic, oncologic, autoimmune, musculoskeletal, and neurodevelopmental disorders are the most frequent clinical symptoms in DS [38]. Endocrinal, gastrointestinal, hepatic, phenotypic, neurocognitive, and psychosocial disorders [39] were reported in TS patient. Compared with the normal fetus, the differential expressed genes of DS [8], ES [9], and TS [10] were analyzed.…”

Section: Discussionmentioning

confidence: 99%

Annotation of Gene Alteration in Amniotic Fluid Cell Free RNA Transcriptome via Weighted Gene Co-expression Network Analysis

Yang

Yin

Liu

et al. 2020

Preprint

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BackgroundHuman amniotic fluid (AF) cells are commonly used in prenatal diagnosis. The AF cell-free mRNA (cfRNA) derived from necrotic or apoptotic cells of fetus may provide feasible marker of organ development and fetal malformation. Analysis of gene co-expression network will help to annotate AF cfRNA gene variations in fetal diseases.MethodsDatasets of amniotic fluid free RNA were downloaded from the Gene Expression Omnibus database. Co-expressed modules based on normal fetus AF cfRNA transcriptome were established via Weighted Gene Co-expression Network Analysis. The relationship between modules and tissues were set up via tissue-specific gene expression analysis of genes in modules. Differential expressed genes in Down syndrome (DS), Edwards syndrome (ES), and Turner syndrome (TS) were analyzed via linear models implemented in the limma package. Gene Ontology (GO) analysis of modular specific differential expressed genes for these three syndrome fetus was performed separately. Based on relationship of GO terms, GO graph of all enriched GO terms were constructed. The associated enriched GO terms in GO graph were considered as the same subset. Numbers of GO terms of the same subset with diseases and modules were calculated.ResultsA total of 22 co-expressed modules were constructed. Most of co-expressed module eigengenes showed no correlation with gestation weeks. Probe sets with higher expression values showed significant clustering tendencies. Dominant tissues and modules were different for different modules and tissues respectively through analysis of tissue-specific genes distribution in modules. The total numbers of enriched GO terms in six major modules were related to diseases severity for ES, DS, and TS. Disease-specific modules for ES, DS, and TS were detected in relation to biological processes through GO analysis. Differential expressed genes in disease-specific module were identified for DS, ES, and TS.ConclusionsThe gene co-expression network for functional classification provides a potential tool for annotating AF cfRNA variations in fetal diseases.

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“…Women with Turner syndrome have different karyotypes, all of which lack X chromosomal material; a 45,X karyotype is present in 40-50% of cases, 45,X/46,XX in 15-25% (74). Patients experience accelerated loss of ovarian follicles starting in fetal life and inexorably leading to ovarian insufficiency and infertility at various ages (75,76).…”

Section: Turner Syndromementioning

confidence: 99%

What Does AMH Tell Us in Pediatric Disorders of Sex Development?

Josso

Rey

2020

Front. Endocrinol.

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Disorders of sex development (DSD) are conditions where genetic, gonadal, and/or internal/external genital sexes are discordant. In many cases, serum testosterone determination is insufficient for the differential diagnosis. Anti-Müllerian hormone (AMH), a glycoprotein hormone produced in large amounts by immature testicular Sertoli cells, may be an extremely helpful parameter. In undervirilized 46,XY DSD, AMH is low in gonadal dysgenesis while it is normal or high in androgen insensitivity and androgen synthesis defects. Virilization of a 46,XX newborn indicates androgen action during fetal development, either from testicular tissue or from the adrenals or placenta. Recognizing congenital adrenal hyperplasia is usually quite easy, but other conditions may be more difficult to identify. In 46,XX newborns, serum AMH measurement can easily detect the existence of testicular tissue, leading to the diagnosis of ovotesticular DSD. In sex chromosomal DSD, where the gonads are more or less dysgenetic, AMH levels are indicative of the amount of functioning testicular tissue. Finally, in boys with a persistent Müllerian duct syndrome, undetectable or very low serum AMH suggests a mutation of the AMH gene, whereas normal AMH levels orient toward a mutation of the AMH receptor.

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Turner syndrome: mechanisms and management

Cited by 226 publications

References 160 publications

Application of droplet digital PCR in diagnosing of X monosomy in mares

Application of droplet digital PCR in diagnosing of X monosomy in mares

Annotation of Gene Alteration in Amniotic Fluid Cell Free RNA Transcriptome via Weighted Gene Co-expression Network Analysis

What Does AMH Tell Us in Pediatric Disorders of Sex Development?

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