Abstract
Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions. To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical genetics in southern Brazil. Retrospective cross-sectional study conducted in two clinical genetics services in Porto Alegre (RS), Brazil. The sample consisted of 59 patients with TS diagnosed from 1993 to 2019. A review of their medical records was performed and a standard protocol was filled out. The average age of the patients at diagnosis was 15.9 years, and 40.7% were over 13 years old. The largest proportion of them (42.4%) had been referred from an endocrinology department and their constitution was 45,X (40.7%). The most common clinical findings were short stature (85.7%), hypoplastic/ hyperconvex nails (61.2%), low posterior hairline (52.1%) and cubitus valgus (45.8%). There was no difference regarding the presence of short stature (P = 0.5943), number of dysmorphia (P = 0.143), anatomical regions affected and malformations identified through imaging examinations (P = 1.0000), regarding the presence or absence of 45,X constitution. Only 6% of the patients had used growth hormone and 43%, estrogen. We found that, in general, patients with TS were being diagnosed late. This has important implications for their treatment. In addition, only a small proportion of the patients were undergoing further examination or evaluation, which appeared to be leading to underdiagnosis of many abnormalities.
Highlights
Turner syndrome (TS), or Ullrich-Turner syndrome, is a genetic condition clinically characterized by findings such as short stature, hypogonadism, webbed neck, broad thorax and dysplastic nails.[1]
The sample consisted of 59 patients diagnosed with TS at two clinical genetics services, one at a university and the other at a mother-and-child hospital, both in Porto Alegre (RS), Brazil, from 1993 to 2019
The data collected consisted of age at diagnosis, reason for referral and specialty from which the referral was made, evaluation period, GTG-banding karyotype result obtained from a peripheral blood sample, dysmorphological physical examination with anthropometric measurements and description of the dysmorphia and secondary sexual characteristics, use of growth hormone and estrogen therapy, and presence of associated diseases and abnormalities that were identified through complementary imaging examinations and expert assessments
Summary
Turner syndrome (TS), or Ullrich-Turner syndrome, is a genetic condition clinically characterized by findings such as short stature, hypogonadism, webbed neck, broad thorax and dysplastic nails.[1] It has an incidence of 1/2500 female births. Among the TS-associated chromosomal constitutions, the most common is X chromosome monosomy, which is present in about 45% of the cases. Another frequent abnormality is a long-arm isochromosome of the X chromosome (10-20% of the cases), which occurs due to loss of the short arm and duplication of the X chromosome long arm. OBJECTIVE: To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical genetics in southern Brazil. Only a small proportion of the patients were undergoing further examination or evaluation, which appeared to be leading to underdiagnosis of many abnormalities
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