Health Supervision for Children With Turner Syndrome

PEDIATRICS ◽  
1995 ◽  
Vol 96 (6) ◽  
pp. 1166-1173
Author(s):  
Keyword(s):  
Short Stature ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Sex Chromosome ◽  
First Trimester ◽  
Clinical Findings ◽  
Chromosome Constitution ◽  
Birth Prevalence ◽  
Frequent Use ◽  
Wide Range

This set of guidelines is designed to assist the pediatrician in caring for the child in whom the diagnosis of Turner syndrome has been confirmed by karyotype. Although the pediatrician's first contact with the child is usually during infancy, occasionally the pregnant woman who has been given the prenatal diagnosis of Turner syndrome will be referred for advice. Therefore, these guidelines offer advice for this situation as well. Turner syndrome, as used here, refers to a condition in which there is short stature and ovarian dysgenesis in females because of the absence of a normal second sex chromosome. Nonchrornosomal gonadal dysgenesis is excluded. The birth prevalence of Turner syndrome has been estimated to be from 1:2000 to 1:5000 female live births. About 1% to 2% of all conceptuses have a 45,X chromosome constitution. Of these, the majority (99%) spontaneously abort, usually during the first trimester of pregnancy. With the more frequent use of ultrasound, it is recognized that some pregnancies with a fetal 45,X chromosome constitution progressing into the second trimester are associated with nuchal cysts, severe lymphedema, or hydrops fetalis. These pregnancies are associated with a high frequency of fetal death. PHENOTYPE Pediatricians are most familiar with the clinical findings that prompt the diagnosis in children, namely, short stature and the classic Turner syndrome features such as lymphederna, webbed neck, low posterior hair line, and cubitus valgus. A wide range of clinical abnormalities may be found (Table 1). Turner syndrome, however, is not always accompanied by distinctive features and most often is not diagnosed in infancy.

scholarly journals Concurrent Van der Woude syndrome and Turner syndrome: A case report

2017 ◽  
Vol 5 ◽  
pp. 2050313X1668791 ◽  
Author(s):  
Evan Los ◽  
Hayley Baines ◽  
Ines Guttmann-Bauman
Keyword(s):  
Short Stature ◽  
Turner Syndrome ◽  
Sex Chromosome ◽  
Delayed Diagnosis ◽  
Chromosome 1 ◽  
Pituitary Insufficiency ◽  
Van Der Woude Syndrome ◽  
Unique Case ◽  
Second Sex ◽  
Interferon Regulatory Factor 6

Most cases of Van der Woude syndrome are caused by a mutation to interferon regulatory factor 6 on chromosome 1. Turner syndrome is caused by complete or partial absence of the second sex chromosome in girls. We describe a unique case of the two syndromes occurring concurrently though apparently independently in a girl with Van der Woude syndrome diagnosed at birth and Turner syndrome at 14 years 9 months. Short stature was initially misattributed to Van der Woude syndrome and pituitary insufficiency associated with clefts before correctly diagnosing Turner syndrome. We discuss the prevalence of delayed diagnosis of Turner syndrome, the rarity of reports of concurrent autosomal chromosome mutation and sex chromosome deletion, as well as the need to consider the diagnosis of Turner syndrome in all girls with short stature regardless of prior medical history.

scholarly journals Craniofacial growth and development of Turner syndrome children

2009 ◽  
Vol 21 (2) ◽  
Author(s):  
Inne Suherna Sasmita ◽  
Arlette Suzy Puspa Pertiwi ◽  
M Harun Achmad
Keyword(s):  
Turner Syndrome ◽  
Growth And Development ◽  
Sex Chromosome ◽  
Genetic Disorder ◽  
Chromosome Constitution ◽  
Whole Body ◽  
Craniofacial Growth ◽  
Oral Manifestations ◽  
Permanent Molars ◽  
First Permanent Molars

Turner syndrome is a genetic disorder which characterized by specific physical appearance and the lost of one of sex chromosome in females. The most frequent chromosome constitution in Turner syndrome is 45X. This disorder may cause an interruption of growth and development in the whole body as well as in the craniofacial region. The oral manifestations of Turner syndrome are micrognathia, high palate, malocclusion, and the premature eruption of first permanent molars. This paper will discuss the oral manifestations associated with the craniofacial growth and development of Turner syndrome.

scholarly journals GC-biased gene conversion in X-Chromosome palindromes conserved in human, chimpanzee, and rhesus macaque

2021 ◽  
Author(s):  
Emily K Jackson ◽  
Daniel W. Bellott ◽  
Helen Skaletsky ◽  
David C. Page
Keyword(s):  
Rhesus Macaque ◽  
Gene Conversion ◽  
X Chromosome ◽  
Sex Chromosome ◽  
Gc Content ◽  
Single Copy ◽  
Flanking Sequence ◽  
X Chromosomes ◽  
Wide Range ◽  
Biased Gene Conversion

Gene conversion is GC-biased across a wide range of taxa. Large palindromes on mammalian sex chromosomes undergo frequent gene conversion that maintains arm-to-arm sequence identity greater than 99%, which may increase their susceptibility to the effects of GC-biased gene conversion. Here, we demonstrate a striking history of GC-biased gene conversion in 12 palindromes conserved on the X chromosomes of human, chimpanzee, and rhesus macaque. Primate X-chromosome palindrome arms have significantly higher GC content than flanking single-copy sequences. Nucleotide replacements that occurred in human and chimpanzee palindrome arms over the past 7 million years are one-and-a-half times as GC-rich than the ancestral bases they replaced. Using simulations, we show that our observed pattern of nucleotide replacements is consistent with GC-biased gene conversion with a magnitude of 70%, similar to previously reported values based on analyses of human meioses. However, GC-biased gene conversion explains only a fraction of the observed difference in GC content between palindrome arms and flanking sequence, suggesting that additional factors are required to explain elevated GC content in palindrome arms. This work supports a greater than 2:1 preference for GC bases over AT bases during gene conversion, and demonstrates that the evolution and composition of mammalian sex chromosome palindromes is strongly influenced by GC-biased gene conversion.

Cognitive and Behavioral Manifestations in Turner Syndrome

2010 ◽  
Author(s):  
Aysenil Belger ◽  
Sarah J. Hart
Keyword(s):  
Turner Syndrome ◽  
Health Care Providers ◽  
X Chromosome ◽  
Behavioral Problems ◽  
Structural Changes ◽  
Sex Chromosome ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Expression Of Genes ◽  
Recessive Genes

Turner Syndrome (TS) is a common genetic disorder that affects approximately 1 in 1,900 live female births. Like other sex chromosome abnormalities (SCAs), TS has high morbidity due to associated congenital abnormalities, neurodevelopmental disturbances, neurocognitive deficits, and social-behavioral problems. Many individuals with TS are not diagnosed. Those who are identified may be subject to inadequate care, bias, and discrimination because of a poor understanding of the condition among families, health care providers, and educators, especially regarding developmental profiles and outcomes. Turner syndrome results from an abnormal or missing second sex (i.e., X) chromosome, and by definition, affects only females. There is tremendous variability in the clinical presentations of individuals with TS that is likely due to the variable nature of the genetic abnormality. Approximately 50% of girls with TS have a 45X karyotype (Savendahl and Davenport 2000; Soriano-Guillen et al. 2005; Sybert and McCauley 2004), with the remainder having either a structural abnormality or mosaicism involving the X chromosome. Structural changes of the X chromosome include deletions, breakage of both arms to form a ring chromosome, or breakage and exchange in the X centromere region to form an isochromosome. Common mosaic patterns include 45,X/46,XX, 45,X/46,X,i(X), and 45, X/46,XY (Table 19.1). Correlations of clinical phenotype with cytogenetic data are further complicated by the wide range of structural abnormalities, as well as by mosaicism, differences in X-inactivation patterns, and the presence of abnormal recessive genes (Ogata and Matsuo 1995). Girls with 45X karyotype tend to be most severely affected, and there is less variability within this group than in the population as a whole. Many of the clinical manifestations of TS can be understood in the context of reduced expression of genes on the X chromosome (Neely 1994; Zinn and Ross 1998; Zinn et al. 1998). In normal females, one X chromosome is inactivated; however, the process is not complete. Genes on the X-chromosome that are not inactivated, so-called pseudoautosomal genes, are present in a cluster near the tip of the short arm and scattered elsewhere.

Fetal safety of chloroquine and hydroxychloroquine use during pregnancy: a nationwide cohort study

Rheumatology ◽  
2020 ◽  
Author(s):  
Niklas Worm Andersson ◽  
Lone Skov ◽  
Jon Trærup Andersen
Keyword(s):  
Cohort Study ◽  
Preterm Birth ◽  
Birth Defects ◽  
First Trimester ◽  
Outcome Analysis ◽  
Birth Prevalence ◽  
Increased Risk ◽  
Wide Range ◽  
Fetal Safety ◽  
In Pregnancy

Abstract Objective The antimalaria 4-aminoquinoline drugs chloroquine and HCQ are used in the treatment of a wide range of CTDs. Data to inform on the safety of their use in pregnancy are limited. Methods In a Danish nationwide cohort study from 1996 through 2016, we identified 4-aminoquinoline–exposed pregnancies from a cohort of 1 240 875 pregnancies to investigate the associated risks of major birth defects, preterm birth, and small size for gestational age (SGA). Distinct study cohorts of propensity-score–matched 4-aminoquinoline-exposed and unexposed pregnancies (in a 1:1 ratio) were established for each outcome analysis. The association with the outcomes was assessed by prevalence odds ratios (ORs) estimated through logistic regression. The associated risks for chloroquine and HCQ were individually assessed through additional analyses. Results A total of 1487 pregnancies exposed to 4-aminoquinolines (1184 chloroquine- and 303 HCQ-exposed) were identified. Among the 983 pregnancies exposed to 4-aminoquinolines in the first trimester, 34 infants (3.5%) were diagnosed with major birth defects as compared with 36 (3.7%) among the matched unexposed pregnancies (prevalence OR, 0.94; 95% CI: 0.59, 1.52). Exposure to 4-aminoquinolines in pregnancy was neither associated with an increased risk of preterm birth (prevalence OR, 0.97; 95% CI: 0.73, 1.28) or SGA (prevalence OR, 1.18; 95% CI: 0.93, 1.50), compared with unexposed pregnancies. No significant associations between exposure to chloroquine or HCQ individually and risk of the outcomes were identified. Conclusion Among pregnancies exposed to 4-aminoquinolines (chloroquine and HCQ), no increased risk of major birth defects, preterm birth, or SGA was identified.

scholarly journals GC-biased gene conversion in X-chromosome palindromes conserved in human, chimpanzee, and rhesus macaque

2021 ◽  
Author(s):  
Emily K Jackson ◽  
Daniel W Bellott ◽  
Helen Skaletsky ◽  
David C Page
Keyword(s):  
Rhesus Macaque ◽  
Gene Conversion ◽  
X Chromosome ◽  
Sex Chromosome ◽  
Gc Content ◽  
Single Copy ◽  
Flanking Sequence ◽  
X Chromosomes ◽  
Wide Range ◽  
Biased Gene Conversion

Abstract Gene conversion is GC-biased across a wide range of taxa. Large palindromes on mammalian sex chromosomes undergo frequent gene conversion that maintains arm-to-arm sequence identity greater than 99%, which may increase their susceptibility to the effects of GC-biased gene conversion. Here, we demonstrate a striking history of GC-biased gene conversion in 12 palindromes conserved on the X chromosomes of human, chimpanzee, and rhesus macaque. Primate X-chromosome palindrome arms have significantly higher GC content than flanking single-copy sequences. Nucleotide replacements that occurred in human and chimpanzee palindrome arms over the past 7 million years are one-and-a-half times as GC-rich as the ancestral bases they replaced. Using simulations, we show that our observed pattern of nucleotide replacements is consistent with GC-biased gene conversion with a magnitude of 70%, similar to previously reported values based on analyses of human meioses. However, GC-biased gene conversion since the divergence of human and rhesus macaque explains only a fraction of the observed difference in GC content between palindrome arms and flanking sequence, suggesting that palindromes are older than 29 million years and/or had elevated GC content at the time of their formation. This work supports a greater than 2:1 preference for GC bases over AT bases during gene conversion, and demonstrates that the evolution and composition of mammalian sex chromosome palindromes is strongly influenced by GC-biased gene conversion.

scholarly journals A Rare Variant of Turner Syndrome With Isodicentric X Chromosome Resulting in Trisomy: A Case Report

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. A695-A696
Author(s):  
Jacqueline T Chan ◽  
Ma Cristine C Cabanas
Keyword(s):  
Short Stature ◽  
Cell Line ◽  
Turner Syndrome ◽  
Cell Lines ◽  
X Chromosome ◽  
Tissue Transglutaminase ◽  
Genetic Disorder ◽  
Delayed Puberty ◽  
Thyroid Peroxidase ◽  
Abnormal Cell

Abstract Introduction: Turner syndrome is a genetic disorder caused by the loss of an X-chromosome affecting approximately 1 in every 2,500 females. A constitutional karyotype of 45, X accounts for nearly 50% of patients, while mosaicism and other chromosomal structural abnormalities such as deletions, duplications, ring, isodicentric chromosomes, inversions and translocations, have been reported. Isodicentric X chromosomes are formed presumably by end-to-end fusion of chromatids after a break, with subsequent loss of an acentric fragment. These chromosomes in general have phenotypes characteristic of the resultant X deletions. We present a case of a 14-year-old female diagnosed with Turner syndrome and with 2 abnormal cell lines. Case Presentation: This is a case of a 14-year-old female referred to pediatric endocrinology for concerns of short stature and delayed puberty. She denied any food intolerance, bloating and diarrhea. She is otherwise healthy with unremarkable past medical history. Her weight was normal at 15th percentile. Her height was 137cm or 0.01 percentile with a Z score of –3.6. Work up revealed hypothyroidism with TSH 16.3 mcIU/mL (0.4-4.7 mcIU/mL), positive thyroid peroxidase antibody >900 IU/ml and thyroglobulin antibody 14 IU/mL (< 1.8IUm/mL) and celiac disease (tissue transglutaminase IgA > 100 U/mL) both without associated symptoms. Estradiol level was undetectable, and LH and FSH were 9.89 mIU/ml and 52.69 mIU/ml respectively. The rest of her labs including growth factors were normal. Bone age was normal at 13 years for chronological age of 14 years old. Chromosomal microarray revealed 2 abnormal cell lines: one with monosomy X, the other with a normal X chromosome and an isodicentric X chromosome involving the Xp11.22-q28 region resulting in trisomy of the latter cell line. Levothyroxine was started. Plan is to start growth hormone therapy and initiate puberty after. Patient referred to necessary subspecialties for hearing evaluation as well as cardiac evaluation Conclusion Turner syndrome usually presents as females with short stature, gonadal dysgenesis and 45,X cell line that is either singly or in combination with another mosaic cell line. Our patient presented with short stature and absence of puberty. Initial investigation revealed hypothyroidism and highly positive celiac antibodies, but unable to attribute her short stature to both diagnoses given the lack of other symptoms. This case emphasizes the importance of checking the karyotype in females presenting with short stature and more importantly delayed puberty as part of the diagnostic algorithm. In addition, checking thyroid and celiac panel are also imperative as treatment of these are treatable etiologies of short stature.

scholarly journals Late Presentation of Turner Syndrome and Its Complications

2018 ◽  
Vol 3 (2) ◽  
pp. 51
Author(s):  
Huzairi Sani ◽  
Nada Syazana Zulkufli
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Turner Syndrome ◽  
Sex Chromosome ◽  
Late Presentation ◽  
Chromosome Abnormalities ◽  
Primary Amenorrhoea ◽  
True Prevalence ◽  
Sex Chromosome Abnormalities

Turner syndrome is one of the most common sex chromosome abnormalities with an estimated true prevalence of 1 in 2,000 in newborns. This case report is of a girl who presented to the adult endocrinologist at 16 years of age and subsequently diagnosed with Turner syndrome. Despite frequenting clinics for unrelated ailments, her short stature was overlooked hence not investigated for a causative pathology. The aim of this report is to explore the diagnostics of Turner syndrome, hormone treatments available and the importance of starting treatment early. KEYWORDS: Turner syndrome, short stature, primary amenorrhoea, osteoporosis

Extensive Analysis of Mosaicism in a Case of Turner Syndrome

1999 ◽  
Vol 123 (5) ◽  
pp. 381-385
Author(s):  
Jonathan P. Park ◽  
Arthur R. Brothman ◽  
Merlin G. Butler ◽  
Linda D. Cooley ◽  
Gordon W. Dewald ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Cell Lines ◽  
X Chromosome ◽  
Sex Chromosome ◽  
Chromosome Instability ◽  
Extensive Study ◽  
Small Ring ◽  
X Chromosomes ◽  
Cytogenetic Survey ◽  
N 93

Abstract Objective.—To assemble and interpret karyotype data provided as part of the College of American Pathologists/American College of Medical Genetics Cytogenetics Proficiency Testing Program. Data Sources, Extraction, and Synthesis.—The Cytogenetics Resource Committee requested data on all cells analyzed in a 1994 whole-blood specimen challenge. In that study, 287 participating laboratories analyzed a total of 14297 cells derived from a sample drawn from an adult donor with Turner syndrome. This individual had previously been found to have mosaicism, including cell lines with X structural anomalies along with monosomy X, making this an excellent challenge for a multicenter cytogenetic survey. Results and Conclusions.—Analysis of the data from this extensive study revealed mosaicism of up to 10 different sex chromosome complements involving the X chromosome with and without a small ring X or a derivative X chromosome. In the routine cytogenetic analysis performed by the participating laboratories, cell lines observed, in decreasing order of prevalence, included 45,X (n = 8357 cells), 46,X,r(X) (n = 3597), 46,X,der(X)t(X;X) (n = 2237), 46,XX (n = 93), 47,X,r(X),r(X) (n = 5), 47,X,der(X)t(X;X),der(X)t(X;X) (n = 3), 47,XX,r(X) (n = 2), and one observation each of 47,XX,der(X)t(X;X), 47,X,der(X)t(X;X),r(X), and 47,XXX. Our molecular cytogenetic data, as well as detailed analysis of G-banded chromosomes, suggest the nomenclature for these 2 abnormal X chromosomes as r(X)(p11.3q21.3) and der(X)t(X;X)(p11.3;q21.3), and we discuss models for the concomitant formation of these 2 entities. Both the degree of analysis and the extensive mosaicism that was discovered in this study are exceptional, and similar reported cases as well as possible mechanisms for the observed X chromosome instability are reviewed.

scholarly journals Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)

2018 ◽  
Vol 2018 ◽  
pp. 1-3 ◽  
Author(s):  
Hanane Latrech ◽  
Houssein Madar ◽  
Ahmed Gaouzi
Keyword(s):  
Turner Syndrome ◽  
Clinical Features ◽  
X Chromosome ◽  
Gonadal Dysgenesis ◽  
Clinical Presentation ◽  
Sex Chromosome ◽  
De Novo ◽  
First Case ◽  
Chromosome Disorder ◽  
De Novo Translocation

Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation.

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