Thyroid ultrasound in patients with Turner syndrome: Influence of clinical and auxological parameters

Calcaterra, Valeria; Klersy, Catherine; Muratori, T.; Caramagna, C.; Brizzi, V.; Albertini, Riccardo; Larizza, Daniela

doi:10.1007/bf03347082

Cited by 8 publications

(6 citation statements)

References 37 publications

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“…Studies on the frequency of autoimmune thyroid disease have shown increased TPOAb levels in 48.45% of our patients, a finding that is similar to figures reported from Italy ( 32 ) and Denmark ( 33 ), but which is less than in Albania ( 6 ) and Poland ( 35 ). Also, among TS girls with elevated TPOAb levels the number of patients with subclinical and clinical hypothyroidism was greater (77.9%) as compared to other European countries.…”

Section: Discussionsupporting

confidence: 90%

“…Hearing defects in patients with TS are characterized by a high frequency of otitis media, assumed to be caused by abnormalities in the eustachian tube and middle ear ( 20 , 28 , 29 ). Patients with TS are reported to have a higher frequency of autoimmune diseases, including autoimmune thyroid disease and celiac disease ( 30 , 31 , 32 , 33 ). Several researchers in Europe have reported increased levels of antithyroid antibodies in patients with TS, the frequency ranging from 36 to 64.8% ( 6 , 30 , 31 , 32 , 33 , 34 , 35 ).…”

Section: Introductionmentioning

confidence: 99%

“…Patients with TS are reported to have a higher frequency of autoimmune diseases, including autoimmune thyroid disease and celiac disease ( 30 , 31 , 32 , 33 ). Several researchers in Europe have reported increased levels of antithyroid antibodies in patients with TS, the frequency ranging from 36 to 64.8% ( 6 , 30 , 31 , 32 , 33 , 34 , 35 ). Of these, 21.2-70.4% were reported to have subclinical or clinical hypothyroidism ( 30 , 31 , 33 , 34 , 35 ).…”

Section: Introductionmentioning

confidence: 99%

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Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features

Zelinska

Shevchenko

Globa

2018

Jcrpe

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Objective: We aimed to investigate the prevalence of Turner syndrome (TS) in the Ukrainian population, the frequency of karyotype variants, the age of children at diagnosis, the degree of short stature and phenotypic features in TS girls.Methods: A retrospective analysis was made in 538 TS girls aged 0.11-18.2 years within the time period of 2005-2015 with detailed examination of 150 patients.Results: The prevalence of TS in Ukraine is 77.5 in 100.000 live female births. The average age at diagnosis is 9.33±4.93 years. The relative proportions of karyotypic abnormalities found were: 45,X (59.3%); mosaicism 45,X/46,XX (22.9%); and structural abnormalities in chromosome X (17.8%). The most frequently encountered findings were growth delay (98.8%), shortening of the 4th and 5th metacarpal bones (74.6%), abnormal nails (73.3%), broad chest (60.7%), short neck (58.6%), hypertelorism of nipples (51.4%), malformations of the cardiovascular (19.6%) and urinary systems (13.8%) and pathology related to vision (20.1%) and hearing (22.0%).Conclusion: In the Ukrainian population, the highest proportion of patients with TS had a karyotype 45,X. TS was accompanied by a lower frequency of malformations of internal organs compared to other countries.

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Section: Discussionsupporting

confidence: 90%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features

Zelinska

Shevchenko

Globa

2018

Jcrpe

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“…However, their measurement is usually recommended at first detection of thyroid dysfunction and/or with thyroid enlargement. The thyroid gland is, on ultrasound, not different from the general population (362). Management of thyroid dysfunction during pregnancy should follow local clinical practice guidelines for any pregnant woman.…”

Section: Autoimmunitymentioning

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

908

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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“…Finally, GD in TS patients may often be preceded by HT (about 25.7% of cases), regardless of thyroid function and autoimmunity tests at HT In addition to changes in function, thyroid structural alterations may also be associated with HT [40]. Calcaterra et al found that the prevalence of nodular thyroid disease is similar in TS and in non-TS subjects [38].…”

Section: Turner Syndromementioning

confidence: 99%

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

Casto

Pepe

Pomi

et al. 2021

Genes

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Autoimmune thyroid diseases (AITDs), including Hashimoto’s thyroiditis (HT) and Graves’ disease (GD), are the most common cause of acquired thyroid disorder during childhood and adolescence. Our purpose was to assess the main features of AITDs when they occur in association with genetic syndromes. We conducted a systematic review of the literature, covering the last 20 years, through MEDLINE via PubMed and EMBASE databases, in order to identify studies focused on the relation between AITDs and genetic syndromes in children and adolescents. From the 1654 references initially identified, 90 articles were selected for our final evaluation. Turner syndrome, Down syndrome, Klinefelter syndrome, neurofibromatosis type 1, Noonan syndrome, 22q11.2 deletion syndrome, Prader–Willi syndrome, Williams syndrome and 18q deletion syndrome were evaluated. Our analysis confirmed that AITDs show peculiar phenotypic patterns when they occur in association with some genetic disorders, especially chromosomopathies. To improve clinical practice and healthcare in children and adolescents with genetic syndromes, an accurate screening and monitoring of thyroid function and autoimmunity should be performed. Furthermore, maintaining adequate thyroid hormone levels is important to avoid aggravating growth and cognitive deficits that are not infrequently present in the syndromes analyzed.

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Thyroid ultrasound in patients with Turner syndrome: Influence of clinical and auxological parameters

Cited by 8 publications

References 37 publications

Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features

Nationwide Study of Turner Syndrome in Ukrainian Children: Prevalence, Genetic Variants and Phenotypic Features

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

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

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