Perfil clínico e genotípico de pacientes com Síndrome de Prader-Willi atendidos em um Hospital Universitário no município de Belo Horizonte

• Autor(a) principal: Jackeline Alves Galdino
• Data de Publicação: 2017
• Tipo de documento: Trabalho de conclusão de curso
• Idioma: por
• Título da fonte: Repositório Institucional da UFMG
• Texto Completo: http://hdl.handle.net/1843/BUOS-AP2PAY
• topic: Síndrome de Prader Willi; Obesidade; Hipotonia; Sistema endócrino

Prader-Willi syndrome (PWS) is a disorder caused by lack of expression of genes on the paternally inherited chromosome 15q11-q13 or morerarely, region maternal uniparental disomy or imprinting defect. The estimated prevalence of PWS is 1:10.000 - 1:30.000, affecting both sexesequally. Objective: Develop a review of the literature on the genotypic andphenotypic characteristics of PWS and investigated the most commonlypresented patients treated at the Pediatric Endocrinology outpatient clinic of Hospital das Clínicas of UFMG from 2000 to 2016. Methodology:Were analyzed 14 medical records of children and adolescents (mean age 11.8 ± 5.96 years) with clinical and cytogenetic-molecular diagnosis of the syndrome. The following variables were obtained: age, sex, age at diagnosis, genetic-clinical diagnosis, referral source, BMI, presence of hypotonia, weak suction, delayed neuropsychomotor development, low birth weight, cryptorchidism, hypogonadism, diabetes mellitus, systemic arterial hypertension, deficiency and use of GH. Results: Of the medical records analyzed, 64.28% (n = 9) were male. The mean age at diagnosis was 4 years (± 4.55), the most frequent genetic result being the deletion of chromosome 15 q11-13 (53.84%). The maternal uniparental disomy was present in 30.77% of the patients and the imprinting deletion was7.69%. Obesity and overweight were observed in 50% of the cases, low birth weight in 78.57% and hypotonia / weak suction in 85.71% of the children. Of the obese individuals, 60% had systemic arterial hypertension and 80% had diabetes Mellitus type 2. All patients presented delayed neuropsychomotor development and one used GH with good response. The patients stature was low in 57.14%of the cases. The mean final height of the boys was 147 ± 4 cm (n = 2) and 143.3 ± 5.24 cm in the girls (n = 3). Two patients presented hypogonadism with low levels of gonadotrophins. Conclusion: Clinical signs as hypotonia and sucking deficit in children, especially those that develop with later overweight, short stature and delayed neuropsychomotor development, should be valued for thehigh probability of diagnosis of SPW. In such cases, genetic confirmation should preferably be performed by DNA methylation analysis.