New insights into clinical features, karyotypes, and age at diagnosis in women with Turner syndrome

Frelich, Jakub; Irzyniec, Tomasz; Lepska, Katarzyna; Jeż, Wacław

doi:10.5603/ep.a2019.0016

Cited by 9 publications

(5 citation statements)

References 26 publications

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“…Fifteen studies were reviewed for age at TS diagnosis, number of subjects, date range of the study, and year of publication (Table 1) (Apperley et al, 2018; Berglund et al, 2019; Cameron‐Pimblett et al, 2017; Frelich et al, 2019; Krantz et al, 2019; Massa et al, 2005; Massa & Vanderschueren‐Lodeweyckx, 1991; Noordman et al, 2019; Saikia et al, 2017; Sävendahl & Davenport, 2000; Schoemaker et al, 2008; Simm et al, 2008; Stochholm et al, 2006; Yeşilkaya et al, 2015; Zelinska et al, 2018). Average or median age range was 4.2–18.0 years.…”

Section: Resultsmentioning

confidence: 99%

“…Fifteen studies were reviewed for age at TS diagnosis, number of subjects, date range of the study, and year of publication (Table 1) (Apperley et al, 2018;Berglund et al, 2019;Cameron-Pimblett et al, 2017;Frelich et al, 2019;Krantz et al, 2019;Massa et al, 2005; The age of TS diagnosis in our cohort is relatively young; however, if the diagnosis was not made in the prenatal or in the neonatal period, the median age of diagnosis was delayed at 7.0 years. This demonstrates that TS patients still have quite a delay in diagnosis when TS is not detected early in life.…”

Section: Review Of Prior Literaturementioning

confidence: 99%

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Age at and indication for diagnosis of Turner syndrome in the pediatric population

Swauger

Backeljauw

Hornung

et al. 2021

American J of Med Genetics Pt A

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Early diagnosis of Turner syndrome (TS) enables timely intervention and may improve outcomes, but many are still diagnosed late. The objectives of our study were to describe the age and clinical features leading to diagnosis of TS in a large referral center. We hypothesize that newer testing modalities, such as noninvasive prenatal testing (NIPT), may lead to a decline in the age of diagnosis. Medical records of TS patients followed at The Cincinnati Center for Pediatric and Adult TS Care between 1997 and 2016 were reviewed for age at diagnosis, karyotype, and clinical indication(s). Patients (<18 years) were included (n = 239). Thirty‐seven percent of patients were diagnosed prenatally or neonatally (≤1 month). The median age of diagnosis was 1.5 (IQR 0.0–10.0) years. If not made during those periods, the median age was 9.3 (IQR 3.2–12.5) years. The most common indications for diagnosis were before birth, unspecified prenatal testing (57%); in neonates/infants, lymphedema (21%); in childhood, short stature (72%); and in adolescence, short stature (45%) followed by pubertal delay with short stature (22%). The age of TS diagnosis in our cohort is young. However, when the diagnosis is not made before 1 year, the median age of diagnosis has not changed in recent years. The age at diagnosis could decrease with prenatal testing, although our study may not have assessed a long enough period of increased use of NIPT. Together with an increase in provider clinical awareness, this may result in more age‐appropriate screening of comorbidities and earlier therapeutic intervention.

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Section: Resultsmentioning

confidence: 99%

“…Fifteen studies were reviewed for age at TS diagnosis, number of subjects, date range of the study, and year of publication (Table 1) (Apperley et al, 2018;Berglund et al, 2019;Cameron-Pimblett et al, 2017;Frelich et al, 2019;Krantz et al, 2019;Massa et al, 2005; The age of TS diagnosis in our cohort is relatively young; however, if the diagnosis was not made in the prenatal or in the neonatal period, the median age of diagnosis was delayed at 7.0 years. This demonstrates that TS patients still have quite a delay in diagnosis when TS is not detected early in life.…”

Section: Review Of Prior Literaturementioning

confidence: 99%

Age at and indication for diagnosis of Turner syndrome in the pediatric population

Swauger

Backeljauw

Hornung

et al. 2021

American J of Med Genetics Pt A

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“…However, only some of these features are associated with karyotypic differences 4 . In adult women, the diagnosis of TS-related complications is often delayed 5,6 . Women with TS are substantially shorter and have higher body mass indices (BMIs) than their healthy counterparts.…”

Section: Introductionmentioning

confidence: 99%

Childhood growth hormone treatment in women with Turner syndrome - benefits and adverse effects

Irzyniec

Jeż

Lepska

et al. 2019

Sci Rep

Self Cite

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Turner syndrome (TS) is characterized by the partial or complete loss of one sex chromosome and results in growth failure, gonadal insufficiency and cardiac anomalies. Treatment with growth hormone (GH) during childhood has indisputable benefits when taking into account the low stature of TS women. Medical records and biochemical findings of 33 TS women treated with GH in childhood (GH+) were compared to those of 124 TS women who did not receive GH (GH−). It seems that the GH-treated group might have had a more severe initial phenotype than the untreated group, as evidenced by higher FSH, more feeding issues in infancy, more lymphedema cases and urinary system malformations. GH+ women were significantly taller and had a better lipid profile and lower prevalence of arterial hypertension than GH− . However, they also had lower thrombocyte counts, a greater prevalence of retrognathism and nail anomalies, especially when the GH treatment was delayed. Long-term GH use was not as effective for growth as GH treatment during the initial period and seemed to have resulted in elevated creatinine levels. GH treatment in childhood has benefits in adulthood; however, adverse effects may occur, especially in individuals with treatment that is delayed or is too long.

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“…However, the phenotype is highly variable and the precise etiology of each trait associated with TS remains unclear, probably because the TS karyotype greatly differs between subjects [8]. Currently, there is a limited understanding of the genotype-phenotype correlation in TS [10], underscoring the need for further research to identify additional phenotypic factors and genetic mechanisms that explain the heterogeneity of TS signs and symptoms [9].…”

Section: Introductionmentioning

confidence: 99%

Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome

Tallón-Walton,

Sánchez-Molins,

et al. 2024

Diagnostics

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Turner Syndrome (TS) is a rare genetic disorder that affects females when one of the X chromosomes is partially or completely missing. Due to high genetic and phenotypic variability, TS diagnosis is challenging and is often delayed until adolescence, resulting in poor clinical management. Numerous oral, dental and craniofacial anomalies have been associated with TS, yet a comprehensive description is still lacking. This study addresses this gap through a detailed analysis of oral health and craniofacial characteristics in a cohort of 15 females with TS and their first-degree relatives. Subjects with TS ranged from 3 to 48 years old, none showed evidence of periodontal disease and only the youngest was in mixed dentition. Using the Multifunction System, we identified an aggregation of multiple signs and symptoms in each TS subject, including tooth anomalies (supernumerary molars, agenesis, microdontia, enamel defects, alterations in eruption patterns -advanced and delayed for chronological age-, crowding, rotations and transpositions), malocclusion (class II/1 and II/2) and Class II facial profile, while relatives exhibited fewer manifestations. The early detection of these signs and symptoms is crucial for appropriate referral and the optimal clinical management of TS, especially during the critical period of 9 to 10 years when congenital dental anomalies appear. The use of an established taxonomy to describe these phenotypic features is essential for early detection. Multidisciplinary teams are required to ensure holistic care management in rare diseases like TS.

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New insights into clinical features, karyotypes, and age at diagnosis in women with Turner syndrome

Cited by 9 publications

References 26 publications

Age at and indication for diagnosis of Turner syndrome in the pediatric population

Age at and indication for diagnosis of Turner syndrome in the pediatric population

Childhood growth hormone treatment in women with Turner syndrome - benefits and adverse effects

Comprehensive Oral Diagnosis and Management for Women with Turner Syndrome

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