Trends in age at diagnosis of Turner syndrome

Massa, Guy; F, Verlinde; Schepper, Jean De; Thomas, Muriel; Bourguignon, J P; Craen, Margarita; Zegher, Francis de; François, Inge; Caju, M Du; Maes, Marc; Heinrichs, Claudine

doi:10.1136/adc.2004.049817

Cited by 108 publications

(89 citation statements)

References 10 publications

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“…75 Some patients with profound growth retardation and failure to thrive may commence treatment earlier than those who are diagnosed later. A Belgian study 16 found that median age at diagnosis of 242 girls was 6.6 (range 0-18.3) years, although the survey found that 22% of girls were diagnosed after the age of 12 years. Some clinical expert advice suggests that the mean age for starting treatment is 8-9 years of age as many girls are not diagnosed until later in childhood, although there has been a recent trend towards earlier diagnosis.…”

Section: Turner Syndromementioning

confidence: 99%

“…11 A Belgian study analysed age at diagnosis of 242 TS girls who were treated with rhGH between 1991 and 2002. 16 The median age at diagnosis was 6.6 (range 0-18.3) years. Although the survey found that 22% of girls were diagnosed after the age of 12 years, there was a general increase in earlier diagnosis in infancy and childhood compared with a previous survey.…”

Section: Incidence and Prevalencementioning

confidence: 99%

“…The effectiveness and cost-effectiveness of behavioural interventions for the prevention of sexually transmitted infections in young people aged [13][14][15][16][17][18][19] …”

Section: Appendixmentioning

confidence: 99%

See 2 more Smart Citations

Recombinant human growth hormone for the treatment of growth disorders in children: a systematic review and economic evaluation

Takeda

Cooper²,

Bird³

et al. 2010

Health Technol Assess

109

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Section: Turner Syndromementioning

confidence: 99%

Section: Incidence and Prevalencementioning

confidence: 99%

See 1 more Smart Citation

Recombinant human growth hormone for the treatment of growth disorders in children: a systematic review and economic evaluation

Takeda

Cooper²,

Bird³

et al. 2010

Health Technol Assess

109

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“…The fact that patients with the 45,X karyotype are diagnosed earlier than those with other karyotypes has already been observed (18). In addition, significantly greater values of FSH have been observed in young 45,X patients when compared with those with 45,X/46,XX mosaicism (16).…”

Section: Discussionmentioning

confidence: 71%

Spontaneous puberty in girls with early diagnosis of Turner syndrome

Carpini

Carvalho

Guerra‐Júnior

et al. 2012

Arq Bras Endocrinol Metab

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Objective: To verify if the frequency of spontaneous pubertal development among girls with Turner syndrome (TS) diagnosed in infancy and childhood is greater than that of patients diagnosed later. Subjects and methods: Thirty three girls aged < 10 years at the time of diagnosis were evaluated regarding pubertal development. The frequency of spontaneous puberty was compared with that of girls aged > 13 years diagnosed at the same service. Results: Sixteen of 32 informative patients had signs of spontaneous puberty, a frequency greater than that of patients diagnosed later. In six patients, there was no progression of puberty; menarche occurred in six, and one became pregnant, but the fetus was a stillborn. Spontaneous puberty was absent in all cases with 45,X karyotype. Conclusions: The greater prevalence of spontaneous puberty in girls whose diagnosis was not based on pubertal delay suggests that, among those diagnosed later, there is a bias towards patients with hypogonadism. Arq Bras Endocrinol Metab. 2012;56(9):653-7 Keywords Turner syndrome; early diagnosis; gonadal dysgenesis; puberty RESUMO Objetivo: Verificar se a frequência de puberdade espontânea em meninas com síndrome de Turner (ST) diagnosticadas na infância é superior a de pacientes diagnosticadas posteriormente. Sujeitos e métodos: Foram avaliadas 33 meninas < 10 anos ao diagnóstico quanto ao desenvolvimento puberal. A frequência de puberdade espontânea foi comparada com a de pacientes com mais de 13 anos diagnosticadas no mesmo serviço. Resultados: Dezesseis das 32 pacientes informativas tiveram sinais puberais espontâneos, frequência superior a daquelas diagnosticadas posteriormente. Em seis delas, não houve progressão da puberdade; a menarca ocorreu em seis casos e uma paciente ficou grávida, porém o feto foi natimorto. Em todos os casos com cariótipo 45,X não ocorreu puberdade espontânea. Conclusões: A maior prevalência de puberdade espontânea em meninas cujo diagnóstico não se baseou em atraso puberal sugere que naquelas detectadas posteriormente haja distorção em favor de pacientes com hipogonadismo.Arq Bras Endocrinol Metab. 2012;56(9):653-7 Descritores Síndrome de Turner; diagnóstico precoce; disgenesia gonadal; puberdade

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“…Early diagnosis of TS allows appropriate growth hormone treatment with better final height prognosis and initiation of estrogen therapy at adequate chronological age (Sävendahl and Davenport, 2000;Massa et al, 2005).…”

Section: Introductionmentioning

confidence: 99%

Size of the exon 1-CAG repeats of the androgen receptor gene employed as a molecular marker in the diagnosis of Turner syndrome in girls with short stature

Figueiredo

Kochi²,

Longui³

et al. 2008

Genet. Mol. Res.

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AbSTRACT. Turner syndrome (TS) is one of the most common chromosomal abnormalities among girls. Complete monosomy of X chromosome is responsible for almost 50% of all cases of TS, and mosaicism and X anomaly are detected in the other half. It has already been demonstrated that early diagnosis of these children allows appropriate growth hormone treatment with better final height prognosis and introduction of estrogen at an ideal chronological age. Sixty-four short-stature girls were selected and the clinical data obtained were birth weight and height, weight and height at the first medical visit and target height. Other clinical data including cardiac and renal abnormalities, otitis, Hashimoto thyroiditis, cubitus valgus, short neck, widely separated nipples, and pigmented nevi were obtained from the patients' medical records. The aim of the present study was to evaluate the screening of a group of short-stature girls for TS based on the number of CAG repeats of the androgen receptor gene analyzed by GeneScan software. Patient samples with two alleles (heterozygous) were 49/64 (76.5%) and with one allele (homozygous) were 15/64 (23.5%). A karyotype was determined in 30 patients, 9 homozygous and 21 heterozygous. In the homozygous group, 6/9 were 45,X and 3/9 were 46,XX. In the heterozygous group, 17/21 were 46,XX, and 4/21 were TS patients with mosaicism (45,X/46,XX; 45,X/46XiXq; 46XdelXp). The pattern obtained by GeneScan in two patients with mosaicism in the karyotype was an imbalance between the peak heights of the two alleles, suggesting that this imbalance could be present when there is a mosaicism. The frequency of TS abnormalities (18.7%) did not differ between TS and 46,XX girls. Thus, it is important to accurately assess the incidence of TS in growthretarded girls, even in the absence of other dysmorphisms. In this study, we diagnosed 6 cases of TS 45,X (9.4%) by molecular analysis, with a 100% sensitivity and 85% specificity. This molecular analysis was able to detect all cases of TS 45,X and the majority of mosaicisms, without the need for more X chromosome markers. In conclusion, determining the number of CAG repeats of the androgen receptor gene analyzed by GeneScan was a fast method with high sensitivity for the detection of TS 45,X, suggesting that it could be interesting as a method for screening a population of growth-retarded girls.

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Trends in age at diagnosis of Turner syndrome

Cited by 108 publications

References 10 publications

Recombinant human growth hormone for the treatment of growth disorders in children: a systematic review and economic evaluation

Recombinant human growth hormone for the treatment of growth disorders in children: a systematic review and economic evaluation

Spontaneous puberty in girls with early diagnosis of Turner syndrome

Size of the exon 1-CAG repeats of the androgen receptor gene employed as a molecular marker in the diagnosis of Turner syndrome in girls with short stature

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