Características clínicas e citogenéticas da síndrome de Turner na região Centro-Oeste do Brasil

Abstract

ResumoOBJETIVO: examinar a associação entre características citogenéticas e alterações clínicas em pacientes com síndrome de Turner (ST). MÉTODOS: Foram incluídas 42 pacientes. Os dados clínicos foram colhidos e registrados em formulário padronizado com entrevista do responsável e, quando possível, com a própria paciente, seguido de exame físico detalhado. A associação entre cariótipo e intercorrências clínicas foram examinadas pelo teste do χ 2 . RESULTADOS: Das pacientes, 64% tinham cariótipo 45,X; 26,2% 45,X/46,X; 7% 45,X/46Xi(Xq) e 2,3% 45,X/46,X,Del(Xq). Independentemente do cariótipo, 100% das pacientes apresentaram baixa estatura. A implantação baixa dos cabelos foi mais frequente nas pacientes com cariótipo 45,X (p=0,03). Anomalias cardiovasculares (45%), otites (43%), disfunção da tireoide (33%) e hipertensão arterial (26,6%) foram as alterações clínicas mais frequentes e não mostraram correlação com o cariótipo. A avaliação de medidas antropométricas revelou correlação positiva entre a idade e o diâmetro da cintura e quadril (r=0,9; p=0,01). Trinta e uma pacientes (74%) faziam ou tinham feito uso de medicamentos, sendo que hormônio de crescimento (43%), esteroides sexuais (30%), tiroxina (11,9%) e oxandrolona (9,5%) foram os mais utilizados. A comparação da idade da gestação no momento em que ocorreu o parto com dificuldade no aprendizado mostrou razão de prevalência de 1,71 (p>0,05). CONCLUSÃO: a implantação baixa dos cabelos é o estigma mais prevalente nas pacientes com cariótipo 45,X e as alterações clínicas mais comuns são as cardiovasculares, otites, hipertensão arterial e disfunções tireoidianas, porém não apresentam correlação com o cariótipo.Abstract PURPOSE: to examine the association between cytogenetic characteristics and clinical and epidemiological changes in patients with Turner syndrome (TS). METHODS: Forty-two patients were included. Data were collected using a standardized questionnaire in interviews conducted with the responsible person and, when possible, with the patient. A detailed physical examination was performed. The association between karyotype, stigmata and clinical disorders were examined using the χ 2 test. RESULTS: Sixty-four percent of TS patients were 45,X; 26,2% 45,X/46,X;7% 45,X/46Xi(Xq), and 2,3% 45,X/46,X,Del(Xq). Regardless of the karyotype, all patients had short stature. Low hair implantation was more frequent in patients with 45,X (p=0.03). Cardiovascular abnormalities (45%), otitis (43%), thyroid dysfunction (33%) and hypertension (26.6%) were the most frequent clinical disorders, but without correlation with the karyotype. Anthropometric measurements revealed a positive linear correlation of waist and hip circumference with age (r=0.9, p=0.01). Thirty-one patients (74%) were using or had previously used growth hormone (43%), sex steroids (30%), thyroxine (11.9%) or oxandrolone (9.5%). Comparison between gestational age at birth and learning difficulties showed a prevalence ratio of 1.71 (p>0.05). CONCLUSION: Low hair implantation is the most prevalent stigma i...

Síndrome de Turner e polimorfismo genético: uma revisão sistemática

“…One of the main clinical signs of TS is short stature, which was present in 97% and 100% of patients with TS assessed. 7 , 8 Thus, growth hormone therapy (GHT) is given to these patients to increase their final adult height. GH exerts its biological functions by direct binding to the GHR (Growth Hormone Receptor) or indirectly via IGF-1 (Insulin-Like Growth Factor) in synergy.…”

“…A descriptive study showed that cardiovascular anomalies (45%), otitis (43%), thyroid dysfunction (33%) and hypertension (26.6%) were the most frequent clinical alterations observed in 42 patients with TS. 8 Polymorphisms in the VDR and PTPN22 gene (Protein Tyrosine Phosphatase, Non-receptor type 22) were investigated by the same group of researchers to verify their association with autoimmune thyroid diseases in patients with TS. 25 , 26 …”

“… 5 Brazilian studies in patients with TS showed that the karyotype 45, X, i.e., monosomy of the sex chromosome X, was found in 40-60% of patients with TS, but mosaicisms and karyotypes with structural alterations, mainly isochromosomes, are also found. 4 , 6 - 8 A retrospective study indicated that better-quality diagnosis has improved the quality of the cytogenetic result of TS, with modification of the proportion between the types of karyotype observed, especially the progressive decrease in the identification of 45, X patients and increased detection of karyotypes with structural aberrations. 6…”

“… 5 Estudos brasileiros em pacientes com ST mostraram que o cariótipo 45,X, ou seja, monossomia do cromossomo sexual X, foi encontrado em 40%-60% das pacientes com ST, mas também são encontrados mosaicos e cariótipos com alterações estruturais, principalmente isocromossomo. 4 , 6 - 8 Estudo retrospectivo indicou que o aprimoramento diagnóstico permitiu melhorar a qualidade do resultado citogenético da ST, com modificação da proporção entre os tipos de cariótipos observados e destaque para a redução progressiva na identificação de pacientes 45,X e aumento na detecção de cariótipos com aberrações estruturais. 6…”

Alterations and Chromosomal Variants in the Ecuadorian Population

“…This syndrome is one of the most frequent genetic disorders and affects 1 out of every 2,500 live female births. The main clinical features of Turner syndrome are short stature, low hair implantation, ovarian dysgenesis accompanied by estrogen deficit, otitis, thyroid dysfunction, hypertension, high risk of cardiovascular mortality, and other abnormalities of different levels of severity [28, 29]. We found one case of mosaicism with 46,XY/45,X karyotype belonging to a girl that had primary amenorrhea, uterus, and ovaries infertile.…”