Clinical and cytogenetic characteristics of patients diagnosed with Turner syndrome in a clinical genetics service: cross-sectional retrospective study
São Paulo med. j
;
139(5): 435-442, May 2021. graf
Article
in English
| LILACS
| ID: biblio-1290261
ABSTRACT
ABSTRACT BACKGROUND:
Turner syndrome (TS) is a rare genetic disease. Understanding its clinical findings contributes to better management of clinical conditions.OBJECTIVE:
To investigate the clinical and karyotypic characteristics of patients diagnosed with TS at two reference services for clinical genetics in southern Brazil. DESIGN ANDSETTING:
Retrospective cross-sectional study conducted in two clinical genetics services in Porto Alegre (RS), Brazil.METHODS:
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.RESULTS:
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.CONCLUSION:
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.
Full text:
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Index:
LILACS (Americas)
Main subject:
Turner Syndrome
Type of study:
Diagnostic study
/
Practice guideline
/
Observational study
/
Prevalence study
/
Prognostic study
Limits:
Adolescent
/
Humans
Language:
English
Journal:
São Paulo med. j
Journal subject:
Cirurgia Geral
/
Cincia
/
Ginecologia
/
Medicine
/
Medicina Interna
/
Obstetr¡cia
/
Pediatria
/
Sa£de Mental
/
Sa£de P£blica
Year:
2021
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Department of Clinical Medicine/BR
/
Department of Health Sciences/BR
/
Department of Nursing/BR
/
Departments of Clinical Medicine and Clinical Genetics/BR
/
Postgraduate Program on Pathology/BR
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