Hyperglycemia in pediatric age: could it be maturity onset diabetes of the young? Case reports and review of the literature.

Maturity Onset Diabetes of the Young (MODY) includes a clinically and genetically heterogeneous group of diabetes subtypes with MODY-2 being the second most prevalent form. We report 2 cases of MODY-2 identified during the investigation of asymptomatic hyperglycemia. A 12-year-old girl with a familiar history of diabetes (mother, maternal aunt, and maternal grandfather) was referred due to hypercholesterolemia, abnormal fasting glucose (114 mg/dL), and increased levels of glycated haemoglobin (HbA1c) (6%) presenting with negative ß-cell antibodies. A glucokinase (GCK) heterozygous missense mutation c.364C>T (p.Leu122Phe) in exon 4 was identified in the index patient and in the 3 family members. An obese 9-year-old boy was investigated for elevated fasting glycemic levels (99-126 mg/dL), HbA1c rise (6.6%-7.6%), and negative ß-cell antibodies. The patient's father, paternal aunt, and paternal grandfather had a history of diabetes during their childhood. A GCK heterozygous missense mutation c.698G>A (p.Cys233Tyr) in exon 7 was identified in the index patient. This variant was only described in another family strongly affected by both MODY and classic autoimmune mediated diabetes, contrary to our case. MODY-2 should be suspected in the presence of early onset of persistent mild fasting hyperglycemia and negative ß-cell antibodies associated with a positive family history of diabetes. These cases illustrate the challenging aspects of MODY diagnosis due to possible phenotypic overlap with other types of diabetes. The diagnosis requires a high level of suspicion and GCK genetic screening should be performed in the presence of compatible features. An early diagnosis allows for appropriate management, genetic counselling, and the identification of affected family members.

What are the most frequent diagnoses in adolescence? The reality of an Adolescent Medicine Clinic.

OBJECTIVE: To characterize the care flow and the primary diagnoses of an Adolescent Medicine Clinic. METHODS: A retrospective descriptive study, with analysis of clinical processes of adolescents (10-18 years) seen at the Adolescent Medicine Clinic, from January 2006 to December 2013. The following variables were analyzed: sex, age, number of visits, referring service and primary diagnoses according to the International Statistical Classification of Diseases and Related Health Problems. As to the variable age, the adolescents were divided into two groups: Group I comprised those aged 10-14 years, and Group II, 15-18 years. RESULTS: A total of 7,692 visits were carried out, in that, 1,659 first visits (22%), with an annual growth rate of 6%. The mean age was 14.2 years, and 55% of patients were female. The group of endocrine, nutritional and metabolic diseases was the most representative in our sample (34%), with obesity being the most frequent diagnosis in both sexes and age groups (23%), with a higher prevalence in males (13% male versus 10% female, p<0.001) and younger adolescents (18% in Group I versus 5% in Group II p<0.001). The group of mental and behavioral disorders was the second most prevalent (32%), affecting mainly females (39% female versus 22% male, p<0.001) and the older age group (39% Group II versus 27% Group I, p<0.001). Social problems were the primary diagnosis in 8% of visits. CONCLUSION: Most diseases diagnosed have a strong behavioral and social component, particularly mental disorders and obesity. This specific type of diagnoses reinforces the need for a global approach for adolescents and specialized adolescent medicine units/clinics.

What are the most frequent diagnoses in adolescence? The reality of an Adolescent Medicine Clinic / Quais os diagnósticos mais frequentes na adolescência? A realidade de uma consulta de Medicina do Adolescente

ABSTRACT Objective To characterize the care flow and the primary diagnoses of an Adolescent Medicine Clinic. Methods A retrospective descriptive study, with analysis of clinical processes of adolescents (10-18 years) seen at the Adolescent Medicine Clinic, from January 2006 to December 2013. The following variables were analyzed: sex, age, number of visits, referring service and primary diagnoses according to the International Statistical Classification of Diseases and Related Health Problems. As to the variable age, the adolescents were divided into two groups: Group I comprised those aged 10-14 years, and Group II, 15-18 years. Results A total of 7,692 visits were carried out, in that, 1,659 first visits (22%), with an annual growth rate of 6%. The mean age was 14.2 years, and 55% of patients were female. The group of endocrine, nutritional and metabolic diseases was the most representative in our sample (34%), with obesity being the most frequent diagnosis in both sexes and age groups (23%), with a higher prevalence in males (13% male versus 10% female, p<0.001) and younger adolescents (18% in Group I versus 5% in Group II p<0.001). The group of mental and behavioral disorders was the second most prevalent (32%), affecting mainly females (39% female versus 22% male, p<0.001) and the older age group (39% Group II versus 27% Group I, p<0.001). Social problems were the primary diagnosis in 8% of visits. Conclusion Most diseases diagnosed have a strong behavioral and social component, particularly mental disorders and obesity. This specific type of diagnoses reinforces the need for a global approach for adolescents and specialized adolescent medicine units/clinics.

RESUMO Objetivo Caracterizar o movimento assistencial e conhecer os diagnósticos principais de uma consulta de Medicina do Adolescente. Métodos Estudo descritivo retrospectivo, com análise dos processos clínicos dos adolescentes (10 a 18 anos) seguidos na consulta de Medicina do Adolescente, de janeiro de 2006 a dezembro de 2013. Foram analisadas as variáveis: sexo, idade, número de consultas, entidade que referenciou e diagnósticos principais, de acordo com a Classificação Estatística Internacional de Doenças e Problemas Relacionados com a Saúde. Com relação à variável idade, os adolescentes foram divididos em dois grupos: Grupo I, que incluiu adolescentes de 10 a 14 anos, e Grupo II, que incluiu aqueles com 15 aos 18 anos. Resultados Realizaram-se 7.692 consultas, sendo 1.659 (22%) primeiras consultas, com taxa de crescimento anual de 6%. A média de idade foi de 14,2 anos, com 55% do sexo feminino. O grupo das doenças endócrinas, nutricionais e metabólicas foi o mais representativo da amostra (34%), sendo a obesidade o diagnóstico mais frequente em ambos os sexos e grupos etários (23%), com maior prevalência nos rapazes (13% homens versus 10% mulheres; p<0,001) e nos adolescentes mais jovens (18% do Grupo I versus 5% do Grupo II; p<0,001). O grupo dos transtornos mentais e do comportamento foi o segundo mais prevalente (32%), afetando principalmente as adolescentes (39% mulheres versus 22% homens; p<0,001) e o grupo etário mais velho (39% do Grupo II versus 27% do Grupo I; p<0,001). Problemas sociais constituíram o principal diagnóstico em 8% das consultas. Conclusão A maioria das patologias diagnosticadas tem forte componente comportamental e social, com destaque para as doenças mentais e a obesidade. Esta tipologia específica de diagnósticos evidencia a necessidade de uma abordagem global do adolescente e de unidades/consultas especializadas nesta faixa etária.