Sofia Helena Valente de Lemos Marini

Cardiovascular and renal anomalies in Turner syndrome

OBJECTIVE To evaluate the frequency and type of cardiovascular (CV) and renal/collecting system (R/CS) abnormalities seen in a sample of patients with Turner Syndrome (TS) and to verify the proportion of those anomalies detected only after diagnosis was established. METHODS Retrospective study of 130 patients with TS diagnosed in an outpatient setting between 1989 and 2006. The mean age at diagnosis was 11.9 years. Data were obtained by personal history of CV and R/CS disorders and by results of echocardiogram and ultrasonography of the kidneys and collecting system performed after diagnosis. RESULTS 25.6% of patients who underwent echocardiograms presented CV abnormalities. Among them, mitral regurgitation (21.4%), bicuspid aortic valve (19%) and aortic coarctation (19%) were the most frequent. R/CS anomalies were found in 29.3% of patients who underwent ultrasonography. Among them, duplication of the collecting system and hydronephrosis (25% each) and horseshoe kidney (21.2%) were the most frequent. In about 80% of cases there was no previous knowledge of these anomalies. CONCLUSION The frequency of CV and R/CS abnormalities found in this study was similar to that of previous studies, but most were found in routine exams after TS diagnosis. Thus, early detection of associated anomalies depends on early detection of TS.

Family-based association of HLA class II alleles and haplotypes with type I diabetes in Brazilians reveals some characteristics of a highly diversified population.

The association of HLA class II haplotypes with type I diabetes was analyzed in 56 Southeastern Brazilian families using affected family-based controls (AFBAC) method. DRB1-DQA1-DQB1 alleles were determined by polymerase chain reaction/sequence-specific primer genotyping. This study first revealed the great haplotype diversity of Brazilians (65 different haplotypes even with incomplete DRB1 subtyping), probably due to the admixture of Africans genes with European and Amerindian genes in this population. The results revealed increased frequencies of the DRB1*03-DQA1*0501-DQB1*02 and DRB1*0401-DQA1*03-DQB1*0302 haplotypes in the patient group The highest risk for type I diabetes was associated with the heterozygote DRB1*03/*04 genotype as largely reported, and DRB1*03/X and DRB1*04/Y genotypes conferred a significant, but much lower disease risk. Protection from type I diabetes revealed some peculiarities in Southeastern Brazilians: a lack of significant protecting effect of the DRB1*1501-DQA1*0102-DQB1*0602 haplotype, and an apparent protection conferred by the DRB1*13-DQB1*0301, DRB1*11-DQB1*0301, and DRB1*01-DQB1*0501 two-locus haplotypes. The risk to type I diabetes in the highly diversified Southeastern Brazilians evidenced specific information to the prediction of the disease in this region of the country.

A percepção da doença em portadoras da síndrome de Turner

OBJECTIVE: To identify how patients with Turner syndrome perceive their condition. METHODS: Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of Turner syndrome at the moment of the diagnosis, their understanding of the syndrome, its effect in their lives, and their expectations for the future. RESULTS: Only 31% of the patients immediately understood the diagnosis. Their feelings associated to that moment were neutral (47%) or concerned (33%). About one third of the interviewed women were unable to explain the etiology of Turner syndrome (42%), did not relate their symptoms with Turner syndrome (36%), and/or believe there might be a cure for it (44%). Although most of the interviewed women affirm that the syndrome has no interference in their lives (67%) and that they consider themselves happy persons (78%), in more than half of the interviews there are evidences of difficulties in social interaction and love relationship, low self-esteem, dissatisfaction with their physical appearances, especially the short stature and infertility. Their hopes for the future refer mainly to study and have a job. Although being, on average, 19 years old, one in two women (53%) still hopes to grow up. CONCLUSION: Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-esteem and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of a psychologist and the medical team.OBJECTIVE To identify how patients with Turner syndrome perceive their condition. METHODS Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of Turner syndrome at the moment of the diagnosis, their understanding of the syndrome, its effect in their lives, and their expectations for the future. RESULTS Only 31% of the patients immediately understood the diagnosis. Their feelings associated to that moment were neutral (47%) or concerned (33%). About one third of the interviewed women were unable to explain the etiology of Turner syndrome (42%), did not relate their symptoms with Turner syndrome (36%), and/or believe there might be a cure for it (44%). Although most of the interviewed women affirm that the syndrome has no interference in their lives (67%) and that they consider themselves happy persons (78%), in more than half of the interviews there are evidences of difficulties in social interaction and love relationship, low self-esteem, dissatisfaction with their physical appearances, especially the short stature and infertility. Their hopes for the future refer mainly to study and have a job. Although being, on average, 19 years old, one in two women (53%) still hopes to grow up. CONCLUSION Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-esteem and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of a psychologist and the medical team.

Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome.

We report on a rare case of female pseudohermaphroditism due to classical 21‐hydroxylase deficiency associated with Turner syndrome (45,X/46,XX). Difficulties in the management of both diseases are briefly discussed. We regard this rare combination as a coincidental occurrence.

Pre-operative control of arterial hypertension using ketoconazole in pediatric patients with adrenocortical tumors.

Adrenocortical tumors are rare in childhood, appearing more frequently in some regions such as South and South-eastern regions of Brazil and India. Common clinical signs include virilization, Cushings syndrome, feminization and hypertension, either isolated or in association. The aim of this report is to present our experience with the pre-operative use of ketoconazole in children with an adrenocortical tumor to control elevated blood pressure levels non-responsive to the usual treatment. Over the last 16 years, of 46 children diagnosed as having adrenocortical tumor, 17 developed hypertension (diastolic pressure greater than the 95th percentile for age and sex according to data from the Task Force on Blood Pressure Control in Children), associated with virilization and/or Cushings syndrome. In three of these 17 patients, conventional antihypertensive therapy failed, and they were treated with ketoconazole (200-300 mg/day). This resulted in rapid control of the blood pressure. It is concluded that in selected patients, ketoconazole may be useful adjuvant therapy for the palliative control of the arterial hypertension secondary to adrenocortical tumors, without side effects.

Variables associated with diagnostic delay in Turner syndrome

Objective: To investigate the possible reasons for diagnostic delay in Turner syndrome (TS), i.e., a diagnosis made after the age when pubertal delay may be established. Methods: Cross-sectional study with data obtained from the records of 29 TS patients aged more than two years who were diagnosed between 2004 and 2007. Data on personal and family history and physical examination from patients diagnosed before 13 years old (age limit from which pubertal delay may be characterized in girls) were compared to those of girls diagnosed after 13 years by Fisher exact test and Student’s t-test. Results: No significant differences were noted regard ing mothers’ and patients’ stature, personal history of TS-associated diseases (considered individually), parental schooling, familial recurrence of short stature, presence of each dysmorphic feature considered separately, and total number of dysmorphic features. The two groups differed regarding the presence of at least one TS-associated disease (which was associated to early diagnosis) and number of siblings (which was higher among patients with delayed diagnosis and associated with lower maternal schooling). Conclusions: Early diagnosis was more associated with the presence of a TS-associated disease (which may have required referral to secondary or tertiary health care services) than with the presence of dysmorphic signs. The results indicate that less evident growth deficit, physicians’ inability to recognize abnormalities associated with TS and socioeconomic aspects may contribute to diagnostic delay. Pediatric training should emphasize recognition of the clinical spectrum of TS and public genetic services should be expanded.OBJETIVO: Investigar as possiveis razoes do atraso no diagnostico da sindrome de Turner (ST), ou seja, aquele realizado apos a idade em que se pode estabelecer o atraso puberal. METODOS: Estudo transversal com obtencao de dados dos prontuarios de 29 pacientes com ST diagnosticadas com mais de dois anos, entre 2004 e 2007. Foram comparados antecedentes pessoais e familiares e dados de exame fisico das pacientes diagnosticadas com menos de 13 anos (limite a partir do qual se pode caracterizar atraso puberal em meninas) com os daquelas diagnosticadas apos os 13 anos por meio dos testes t de Student e exato de Fisher. RESULTADOS: Nao houve diferencas significativas quanto a estatura materna e da propria paciente, historia de afeccoes associadas (consideradas individualmente), escolaridade dos pais, recorrencia familiar de baixa estatura, presenca de cada sinal dismorfico isoladamente e total de sinais observados. Os dois grupos diferiram quanto a presenca de ao menos uma afeccao sugestiva dessa sindrome (associada ao diagnostico mais precoce) e ao numero de irmaos (maior no diagnostico tardio e associado a menor escolaridade materna). CONCLUSOES: O diagnostico precoce relacionou-se mais a presenca de alguma das afeccoes associadas a ST (possivelmente determinando-se encaminhamento a servicos de maior complexidade) do que a sinais dismorficos. Ha indicacoes de que deficit de crescimento menos evidente, dificuldade dos medicos em reconhecer anomalias sugestivas dessa sindrome e determinantes socioeconomicos contribuam para o atraso no diagnostico. E necessario enfatizar na formacao pediatrica o reconhecimento do espectro clinico dessa sindrome e ampliar os servicos publicos de genetica.

Turner syndrome: the patients' view

OBJECTIVE: To identify how patients with Turner syndrome perceive their condition. METHODS: Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of Turner syndrome at the moment of the diagnosis, their understanding of the syndrome, its effect in their lives, and their expectations for the future. RESULTS: Only 31% of the patients immediately understood the diagnosis. Their feelings associated to that moment were neutral (47%) or concerned (33%). About one third of the interviewed women were unable to explain the etiology of Turner syndrome (42%), did not relate their symptoms with Turner syndrome (36%), and/or believe there might be a cure for it (44%). Although most of the interviewed women affirm that the syndrome has no interference in their lives (67%) and that they consider themselves happy persons (78%), in more than half of the interviews there are evidences of difficulties in social interaction and love relationship, low self-esteem, dissatisfaction with their physical appearances, especially the short stature and infertility. Their hopes for the future refer mainly to study and have a job. Although being, on average, 19 years old, one in two women (53%) still hopes to grow up. CONCLUSION: Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-esteem and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of a psychologist and the medical team.OBJECTIVE To identify how patients with Turner syndrome perceive their condition. METHODS Thirty-six women with Turner syndrome, aged between 15 and 25 years and with over 2 years of medical follow-up, were individually interviewed about: the impact of Turner syndrome at the moment of the diagnosis, their understanding of the syndrome, its effect in their lives, and their expectations for the future. RESULTS Only 31% of the patients immediately understood the diagnosis. Their feelings associated to that moment were neutral (47%) or concerned (33%). About one third of the interviewed women were unable to explain the etiology of Turner syndrome (42%), did not relate their symptoms with Turner syndrome (36%), and/or believe there might be a cure for it (44%). Although most of the interviewed women affirm that the syndrome has no interference in their lives (67%) and that they consider themselves happy persons (78%), in more than half of the interviews there are evidences of difficulties in social interaction and love relationship, low self-esteem, dissatisfaction with their physical appearances, especially the short stature and infertility. Their hopes for the future refer mainly to study and have a job. Although being, on average, 19 years old, one in two women (53%) still hopes to grow up. CONCLUSION Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-esteem and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of a psychologist and the medical team.

Fatores associados a atraso no diagnóstico da síndrome de Turner

Objective: To investigate the possible reasons for diagnostic delay in Turner syndrome (TS), i.e., a diagnosis made after the age when pubertal delay may be established. Methods: Cross-sectional study with data obtained from the records of 29 TS patients aged more than two years who were diagnosed between 2004 and 2007. Data on personal and family history and physical examination from patients diagnosed before 13 years old (age limit from which pubertal delay may be characterized in girls) were compared to those of girls diagnosed after 13 years by Fisher exact test and Student’s t-test. Results: No significant differences were noted regard ing mothers’ and patients’ stature, personal history of TS-associated diseases (considered individually), parental schooling, familial recurrence of short stature, presence of each dysmorphic feature considered separately, and total number of dysmorphic features. The two groups differed regarding the presence of at least one TS-associated disease (which was associated to early diagnosis) and number of siblings (which was higher among patients with delayed diagnosis and associated with lower maternal schooling). Conclusions: Early diagnosis was more associated with the presence of a TS-associated disease (which may have required referral to secondary or tertiary health care services) than with the presence of dysmorphic signs. The results indicate that less evident growth deficit, physicians’ inability to recognize abnormalities associated with TS and socioeconomic aspects may contribute to diagnostic delay. Pediatric training should emphasize recognition of the clinical spectrum of TS and public genetic services should be expanded.OBJETIVO: Investigar as possiveis razoes do atraso no diagnostico da sindrome de Turner (ST), ou seja, aquele realizado apos a idade em que se pode estabelecer o atraso puberal. METODOS: Estudo transversal com obtencao de dados dos prontuarios de 29 pacientes com ST diagnosticadas com mais de dois anos, entre 2004 e 2007. Foram comparados antecedentes pessoais e familiares e dados de exame fisico das pacientes diagnosticadas com menos de 13 anos (limite a partir do qual se pode caracterizar atraso puberal em meninas) com os daquelas diagnosticadas apos os 13 anos por meio dos testes t de Student e exato de Fisher. RESULTADOS: Nao houve diferencas significativas quanto a estatura materna e da propria paciente, historia de afeccoes associadas (consideradas individualmente), escolaridade dos pais, recorrencia familiar de baixa estatura, presenca de cada sinal dismorfico isoladamente e total de sinais observados. Os dois grupos diferiram quanto a presenca de ao menos uma afeccao sugestiva dessa sindrome (associada ao diagnostico mais precoce) e ao numero de irmaos (maior no diagnostico tardio e associado a menor escolaridade materna). CONCLUSOES: O diagnostico precoce relacionou-se mais a presenca de alguma das afeccoes associadas a ST (possivelmente determinando-se encaminhamento a servicos de maior complexidade) do que a sinais dismorficos. Ha indicacoes de que deficit de crescimento menos evidente, dificuldade dos medicos em reconhecer anomalias sugestivas dessa sindrome e determinantes socioeconomicos contribuam para o atraso no diagnostico. E necessario enfatizar na formacao pediatrica o reconhecimento do espectro clinico dessa sindrome e ampliar os servicos publicos de genetica.

Phenotype of regulatory T cells in human type 1 diabetes at diagnosis and partial remission phase

Background Human type 1A diabetes (T1AD) has a broad spectrum of clinical presentations, which may be associated with the severity of autoimmune response and consequently, different levels of pancreatic beta cells destruction. The T1AD presents a partial remission phase. The remission phase is classically a short period in childhood-onset diabetes, but longer periods may occur especially in young.

Investigación de factores asociados a retraso en el diagnóstico del síndrome de Turner

Objective: To investigate the possible reasons for diagnostic delay in Turner syndrome (TS), i.e., a diagnosis made after the age when pubertal delay may be established. Methods: Cross-sectional study with data obtained from the records of 29 TS patients aged more than two years who were diagnosed between 2004 and 2007. Data on personal and family history and physical examination from patients diagnosed before 13 years old (age limit from which pubertal delay may be characterized in girls) were compared to those of girls diagnosed after 13 years by Fisher exact test and Student’s t-test. Results: No significant differences were noted regard ing mothers’ and patients’ stature, personal history of TS-associated diseases (considered individually), parental schooling, familial recurrence of short stature, presence of each dysmorphic feature considered separately, and total number of dysmorphic features. The two groups differed regarding the presence of at least one TS-associated disease (which was associated to early diagnosis) and number of siblings (which was higher among patients with delayed diagnosis and associated with lower maternal schooling). Conclusions: Early diagnosis was more associated with the presence of a TS-associated disease (which may have required referral to secondary or tertiary health care services) than with the presence of dysmorphic signs. The results indicate that less evident growth deficit, physicians’ inability to recognize abnormalities associated with TS and socioeconomic aspects may contribute to diagnostic delay. Pediatric training should emphasize recognition of the clinical spectrum of TS and public genetic services should be expanded.OBJETIVO: Investigar as possiveis razoes do atraso no diagnostico da sindrome de Turner (ST), ou seja, aquele realizado apos a idade em que se pode estabelecer o atraso puberal. METODOS: Estudo transversal com obtencao de dados dos prontuarios de 29 pacientes com ST diagnosticadas com mais de dois anos, entre 2004 e 2007. Foram comparados antecedentes pessoais e familiares e dados de exame fisico das pacientes diagnosticadas com menos de 13 anos (limite a partir do qual se pode caracterizar atraso puberal em meninas) com os daquelas diagnosticadas apos os 13 anos por meio dos testes t de Student e exato de Fisher. RESULTADOS: Nao houve diferencas significativas quanto a estatura materna e da propria paciente, historia de afeccoes associadas (consideradas individualmente), escolaridade dos pais, recorrencia familiar de baixa estatura, presenca de cada sinal dismorfico isoladamente e total de sinais observados. Os dois grupos diferiram quanto a presenca de ao menos uma afeccao sugestiva dessa sindrome (associada ao diagnostico mais precoce) e ao numero de irmaos (maior no diagnostico tardio e associado a menor escolaridade materna). CONCLUSOES: O diagnostico precoce relacionou-se mais a presenca de alguma das afeccoes associadas a ST (possivelmente determinando-se encaminhamento a servicos de maior complexidade) do que a sinais dismorficos. Ha indicacoes de que deficit de crescimento menos evidente, dificuldade dos medicos em reconhecer anomalias sugestivas dessa sindrome e determinantes socioeconomicos contribuam para o atraso no diagnostico. E necessario enfatizar na formacao pediatrica o reconhecimento do espectro clinico dessa sindrome e ampliar os servicos publicos de genetica.