Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience

Mohamed, Sarar; Roche, Edna; Hoey, Hilary

doi:10.1515/jpem-2014-0287

Cited by 7 publications

(6 citation statements)

References 18 publications

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“…For girls with TS who are not identified in infancy with lymphedema and webbed neck, diagnosis is often made years after growth failure is apparent, and sometimes when little or no growth potential remains (34,35,36,37,77). In general, the later GH therapy is initiated, the greater the height deficit and the lower the likelihood of normal adult stature and age-appropriate initiation of therapies for pubertal development.…”

Section: Newborn Screeningmentioning

confidence: 99%

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Gravholt¹,

Andersen

Conway

et al. 2017

European Journal of Endocrinology

909

1,259

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Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society of Endocrinology and the Pediatric Endocrine Society, in collaboration with the European Society for Paediatric Endocrinology, the Endocrine Society, the European Society of Human Reproduction and Embryology, the American Heart Association, the Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society of Endocrinology, the Pediatric Endocrine Society, the European Society for Paediatric Endocrinology, the European Society of Human Reproduction and Embryology and Summary of recommendationsThe recommendations (R) are worded as recommend (strong recommendation) and suggest (weak recommendation). We formally graded only the evidence underlying recommendations for therapeutic choices. The quality of evidence behind the recommendations is classified as very low (⨁◯◯◯), low (⨁⨁◯◯), moderate (⨁⨁⨁◯) and strong (⨁⨁⨁⨁). See further section 'Summary of methods used for guideline development'. Diagnosis and geneticsR 1.1. We recommend considering a diagnosis of TS in phenotypic females with a karyotype containing one X chromosome and complete or partial absence of the second sex chromosome, associated with one or more typical clinical manifestations of TS (⨁⨁⨁⨁). R 1.2. We recommend against considering a diagnosis of TS in females with one X chromosome and a deletion distal to Xq24 on the other X chromosome, and in women over the age of 50 years with less than 5% 45,X mosaicism (⨁⨁◯◯). R 1.3. We suggest that the new general surveillance management guideline applies to TS patients with any karyotype (⨁⨁◯◯). R 1.4. We recommend to consider testing for Turner syndrome (TS) in a female with typical signs (Table 2) (⨁⨁⨁⨁). R 1.5. We ...

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Section: Newborn Screeningmentioning

confidence: 99%

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Gravholt¹,

Andersen

Conway

et al. 2017

European Journal of Endocrinology

909

1,259

View full text Add to dashboard Cite

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“…In positive cases, prophylactic removal of gonads has been indicated 4. Two recently published retrospective studies showed Y chromosome material frequencies in TS by classical cytogenetics of 6.6% (4/61)5 and 7.6% (12/158) 6. In one such study, 33% of patients (4/12) had gonadoblastoma and in two patients it progressed to disgerminona or teratoma 6.…”

Section: Introductionmentioning

confidence: 96%

“…Em casos positivos, tem sido indicada a cirurgia profilática para retirada das gônadas 4. Dois estudos retrospectivos publicados recentemente revelaram frequências de material do cromossomo Y em ST por citogenética clássica de 6,6% (4/61)5 e 7,6% (12/158) 6. Em um desses estudos, 4/12 (33%) das pacientes exibiram gonadoblastoma e em duas esse evoluiu para disgerminona ou teratoma 6.…”

Section: Introductionunclassified

Prevalência de sequências do Y e de gonadoblastoma em síndrome de Turner

Marqui

Silva-Grecco

Balarin

2016

Revista Paulista de Pediatria

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“…In positive cases, prophylactic removal of gonads has been indicated. 4 Two recently published retrospective studies showed Y chromosome material frequencies in TS by classical cytogenetics of 6.6% (4/61) 5 and 7.6% (12/158). 6 In one such study, 33% of patients (4/12) had gonadoblastoma and in two patients it progressed to disgerminona or teratoma.…”

Section: Introductionmentioning

confidence: 98%

“…Em casos positivos, tem sido indicada a cirurgia profilática para retirada das gônadas. 4 Dois estudos retrospectivos publicados recentemente revelaram frequências de material do cromossomo Y em ST por citogenética clássica de 6,6% (4/61) 5 e 7,6% (12/158). 6 Em um desses estudos, 4/12 (33%) das pacientes exibiram gonadoblastoma e em duas esse evoluiu para disgerminona ou teratoma.…”

Section: Introductionunclassified

Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome

Marqui

Silva-Grecco

Balarin

2016

Revista Paulista de Pediatria (English Edition)

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Objective:To assess the prevalence of Y-chromosome sequences and gonadoblastoma in patients with Turner syndrome (TS) using molecular techniques.Data source:A literature search was performed in Pubmed, limiting the period of time to the years 2005–2014 and using the descriptors: TS and Y sequences (n=26), and TS and Y-chromosome material (n=27). The inclusion criteria were: articles directly related to the subject and published in English or Portuguese. Articles which did not meet these criteria and review articles were excluded. After applying these criteria, 14 papers were left.Data synthesis:The main results regarding the prevalence of Y-chromosome sequences in TS were: (1) about 60% of the studies were conducted by Brazilian researchers; (2) the prevalence varied from 4.6 to 60%; (3) the most frequently investigated genes were SRY, DYZ3 and TSPY; (4) seven studies used only polymerase chain reaction, while in the remaining seven it was associated with FISH. Nine of the 14 studies reported gonadectomy and gonadoblastoma. The highest prevalence of gonadoblastoma (33%) was found in two studies. In five out of the nine papers evaluated the prevalence of gonadoblastoma was 10–25%; in two of them it was zero.Conclusions:According to these data, molecular analysis to detect Y-chromosome sequences in TS patients is indicated, regardless of their karyotype. In patients who test positive for these sequences, gonadoblastoma needs to be investigated.

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Mode of initial presentation and chromosomal abnormalities in Irish patients with Turner syndrome: a single-centre experience

Abstract: Most patients with TS were diagnosed after age 5 years, had a varied clinical presentation, and had a wide range of chromosomal abnormalities.

Cited by 7 publications

References 18 publications

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Prevalência de sequências do Y e de gonadoblastoma em síndrome de Turner

Prevalence of Y-chromosome sequences and gonadoblastoma in Turner syndrome

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