Diss. (sammanfattning) Stockholm : Karol. inst., 2004. / Härtill 4 uppsatser.

Made available in DSpace on 2015-07-22T20:49:23Z (GMT). No. of bitstreams: 0 Previous issue date: 2010-07-28 / Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP) / Introdução: Estudos epidemiológicos demonstram uma redução de até 13 anos na expectativa de vida das portadoras de Síndrome de Turner (ST) em relação às mulheres normais, sendo a principal causa de mortalidade a Doença Cardiovascular (DCV). Hipertensão arterial sistêmica, Diabetes mellitus, alterações lipídicas e níveis elevados de Homocisteína são importantes fatores de risco para DCV. Os genes TAP1, ENPP1, APOE e MTHFR estão associados ao risco cardiovascular por, estarem envolvidos na patogênese da HAS, do DM, da hipercolesterolemia e da elevação dos níveis plasmáticos de He, respectivamente. O objetivo do presente estudo foi analisar a frequência de polimorfismo destes genes nas portadoras de ST e correlacioná-las como fatores de risco para DCV. Material e métodos: A amostra deste estudo compreende 78 portadoras de ST e 372 indivíduos saudáveis sem a presença e história pessoal e familiar de DCV. Os polimorfismo dos genes TAP1, ENPP1 e C677T MTHFR foram analisado por RFLP – Análise do polimorfismo dos fragmentos de restrição, e as isoformas do gene APOE e polimorfismo A1298C do gene MTHFR foram genotipados através de ensaio TaqMan® SNP Genotyping Assays provenientes da Applied Biosystems®. As frequências dos alelos e dos genótipos foram comparadas às respectivas frequências do grupo controle. Os resultados foram analisados estatisticamente através do teste qui-quadrado (X2) no programa SPSS para Windows 9.0 (SPSS, Inc., Chicago, IL). O nível de significância considerado foi menor que 0,05 (<0,05). Resultados: Na análise do polimorfismo A637G do gene TAP1 as frequências dos genótipos A637A, A637G e G637G nas pacientes com ST foi, respectivamente, 7,7%, 52,6% e 39,7%, enquanto que no grupo controle 11,0%, 55,0% e 34,0%, respectivamente. A frequência dos genótipos para o polimorfismo A121C do gene ENPP1 nas pacientes ST foram: AA 42,3,0%, AC 48,7% e CC 9,0%. Em relação xxi ao grupo controle os genótipos AA, AC e CC se distribuíram da seguinte maneira, 45,0%, 42,0% e 12,0%, respectivamente. A frequência dos genótipos do gene da APOE nas pacientes com ST e nos controles, foi respectivamente: E3E3 68,3% e 61,5%, E2E3 6,3% e 12,4,0%, E3E4 24,1% e 22,6%, E2E2 0% e 1,0%, E4E4 0% e 1,3% e E2E4 1,3% e 1,1%. A frequência dos genótipos MTHFR 677CC, 677CT e 677TT nas 78 pacientes portadoras de ST foi, respectivamente, de 47,4%, 42,3% e 10,3%, enquanto que nos 372 indivíduos do grupo controle os genótipos 677CC, 677CT e 677TT foram encontrados nas seguintes frequências: 59,0%, 29,0% e 12,0% , respectivamente. As frequências dos genótipos para o polimorfismo A1298C no gene MTHFR nas pacientes com ST e grupo controle, foram, respectivamente: AA 46,2% e 64%, AC 35,9% e 31% e CC 17,9% e 5%. Conclusão: Não foi observada associação entre os polimorfismos dos genes TAP1, ENPP1, APOE e C677T MTHFR e o risco para DCV nas portadoras de ST. Entretanto o polimorfismo A1298C do gene MTHFR apresenta-se com frequência estatisticamente elevada nas pacientes (p<.0001), sendo considerado um fator de risco para a DCV nas portadoras / Background: Epidemiological studies showed a reduction of up to 13 years in life expectancy of Turner Syndrome (TS) patients compared to normal women, being the main cause of cardiovascular disease (CVD) mortality. Hypertension (SAH) diabetes mellitus (DM) and dislipidemy are important risk factors for CVD that are highly prevalent in this syndrome. TAP1, ENPP1 and APOE genes are associated with cardiovascular risk for being involved in the pathogenesis of hypertension, DM and hypercholesterolemia, respectively. The aim of this study was to analyze the frequency of polymorphism of these genes in TS patients. Methods: Seventy eight TS patients and 372 healthy individuals with no personal and familial history of CVD were assessed for polymorphisms of genes TAP1 and ENPP1 by Restriction fragment length polymorphism (RFLP). Isoforms of APOE gene were genotyped by qPCR. Results: Analysis of AA, GG and AG genotypes frequencies of A637G TAP1 polymorphism in TS patients were, respectively, 7.7%, 52.6% and 39.7%, while the control group presented 11.0%, 55.0% and 34.0% (p=0.4584). The frequency of genotypes for ENPP1 A121C polymorphism in the ST patients were: AA 42,3,0%, AC 48.7% and CC 9.0% and 45.0%, 42.0% and 12.0% in controls (p=0.5169). The frequency of genotypes of APOE gene in TS patients and controls were, respectively: E3E3 68.3% and 61.5%, E2E3 6.3% and 12,4%, E3E4 24.1% and 22,6%, E2E2 0% and 1.0%, E4E4 0% and 1.3% and E2E4 1.3% and 1.1%, (p=0,864). Conclusion: There were no correlations between the frequencies of TAP1, ENPP1 and APOE polymorphisms and CVD risk in women with TS. / TEDE / BV UNIFESP: Teses e dissertações

abstract: The presence of certain chromosomal disorders is not always immediately apparent at birth. Children with relatively high-incidence, but non-heritable disorders may receive delayed identification due to the sometimes subtle manifestation of their disorder. Delayed identification may result in various undesirable outcomes for affected children and their families. In addition to parents, teachers can be valuable participants in the identification process. Chromosomal disorders are associated with generally predictable physical and behavioral characteristics, known as phenotype. In the present study, the influence of phenotype on teachers' student-related concerns was examined. Teachers looked at a photo and read a vignette about a fictional elementary-age student who, although not identified, showed varying degrees of the Turner syndrome phenotype. A follow-up questionnaire indicated significantly greater concerns when a student showed many versus few characteristics of behavioral phenotype. However, the effect of morphological phenotype on teacher responses was not significant. The implications for identification of chromosomal disorders are discussed. / Dissertation/Thesis / Ph.D. Educational Psychology 2013

Orientadores: Andrea Trevas Maciel-Guerra, Maria Tereza Matias Baptista / Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-08-05T23:00:34Z (GMT). No. of bitstreams: 1 Medeiros_CarlaCamposMuniz_D.pdf: 7332353 bytes, checksum: 7ff870527a489358a7cea8fc82f3b9b0 (MD5) Previous issue date: 2005 / Resumo: O seguimento de pacientes com síndrome de Turner (ST) fteqüentemente revela alterações transitórias, recorrentes e assintomáticas de TSH e(ou) hormônios tireoideanos (HT). O objetivo deste trabalho foi avaliar estrutura e função da tireóide de portadoras da ST com história de alterações subclínicas nas concentrações hormonais. A casuística incluiu 17 pacientes com 5,92 a 22,58 anos (média: 14,64). Na primeira avaliação, foram realizadas mensurações das concentrações séricas de TSH, T4 livre,T3 totale anticorpos anti-TPO e anti-Tg, ultra-sonografia (USG) e cintilografia. As pacientes foram seguidas durante dois anos com mensurações semestrais de hormônios e anticorpos e, ainda, nova USG na avaliação final. Doze compareceram às cinco consultas previstas, das quais 11 foram submetidas às duas USG e à cintilografia. Houve alterações de TSH e(ou) HT em 14 casos, em cinco dos quais foi necessário introduzir tratamento para hipotireoidismo (quatro) ou hipertireoidismo (um). Ao final do estudo, dez das 17 pacientes tinham anticorpos presentes naquele momento ou nos exames anteriores. Na avaliação inicial (16 pacientes), só uma paciente teve USG totalmente normal, e todas as demais apresentavam alterações volumétricas (tireomegalia em 14). Na segunda USG (15 casos), quartoze apresentavam alterações volumétricas. Nas duas avaliações, oito pacientes apresentavam outras alterações compatíveis com doença crônica da tireóide, particularmente heterogeneidade do parênquima. A cintilografia foi normal em 13/16 casos. Na primeira e na última avaliação, o achado de alterações nas concentrações hormonais foi independente da idade, do tempo decorrido desde a primeira alteração funcional, do volume da tireóide, da presença de anticorpos, da gravidade das anomalias à USG e de alterações cintilográficas. A comparação entre aquelas com nenhuma ou uma alteração à USG e aquelas com duas ou mais alterações à USG também não mostrou diferenças significativas em relação à idade, ao tempo de evolução e ao volume. Por outro lado, na última avaliação houve associação significativa entre a presença de anticorpos (atual ou pregressa) e o maior comprometimento da tireóide à USG. Esses resultados reforçam que as alterações subclínicas observadas nessas pacientes com ST decorram de doença tireoideana crônica, auto-imune / Abstract: Ihe folIow up of patients with Iumer syndrome (IS) trequently reveals transient, recurrent and asymptomatic variations of ISH andeor) thyroid hormones (IH). Ihe aim of this work was to evaluate thyroid structure and function in patients with IS who had had episodes of subclinical abnormalities of TSH and(or) TH. Our sample comprised 17 patients aged 5.92 to 22.58 years (mean: 14.64). In the first evaluation, serum levels of TSH, free T4, total T3, anti-thyroid peroxidase and anti-thyroglobulin antibodies were determined, and thyroid ultrasound (US) and scintigraphy were done. Ihe patients were followed each six months for two years with measurement of TSH, TH and thyroid antibodies, and another US was done at the end of the study. Iwelve patients attended all five consultations, and 11 were subject to both US and scintigraphy. In 14 cases there were abnormal ISH andeor) IH levels, and five patients had to be treated due to hypothyroidism (four) or hyperthyroidism (one). At the end ofthe study, ten patients had thyroid antibodies at that moment or in clinical history. In the first US (16 patients), only one patient had a totally normal examination, and alI the others had abnormal thyroid volume (thyromegaly in 14 cases). In the second US (15 patients), alI had abnormal thyroid volume. In both examinations, eight patients had other features compatible with chronic thyroid disorder, particularly heterogeneous echogenicity. Scintigraphy was normal in 13/16 cases. In the first and last evaluations, the finding of abnormal TSH and(or) IR levels was independent of age, length of time since the first episode was detected, and thyroid volume, and was also not associated with thyroid autoantibodies, severity of abnormalities at US, and abnormal scintigraphic findings. Ihe comparison between those with one or no US abnormalities and those with two or more findings did not reveal significant differences of age, length of time since the first episode was detected and thyroid volume. However, in the last US there was a significant association between thyroid antibodies and major US abnormalities. Ihese results indicate that subclinical abnormalities on TSH andeor) TH levels in TS are due to chronic autoimmune thyroid disease / Doutorado / Saude da Criança e do Adolescente / Doutor em Pediatria

Premature ovarian Insufficiency (POI) is the cessation of the ovarian function before the age of 40, defined by high serum gonadotrophins, low estradiol and amenorrhea for at least 4 months. The etiology may be iatrogenic after a surgery, chemotherapy or radiotherapy treatment, environmental, autoimmune or genetic. However, in most of the cases the cause remains unknown. Clinical and family studies suggest a strong heritability of age at menopause and POI, but the number of genetic causes and genes identified to be involved in human POI remains very small. In POI patients, the two crucial functions of the ovary, hormonal secretion and reproduction, are absent. In the last decades, however, new advances in assisted reproduction techniques have allowed the possibility of carrying pregnancies to POI women, thanks to oocyte donation. The aim of this study was to identify new genetic factors implicated in the development of POI women and to analyse the reproductive possibilities and outcome of women with a genetic cause of POI. For the first part of the study, the DNA of a cohort of POI women recruited in the Fertility Clinic of the Hôpital Erasme of the Université Libre de Bruxelles was used to sequence five candidate genes (FSHR, GDF9, BMP15, AMH and AMHR2) known to be implicated in the ovarian folliculogenesis. The most important findings were two very rare variants and one unknown variant in the AMH gene. The functional study performed with these variants suggested a diminished function of the mutant protein. Furthermore, one of the variants was found in the mother of one of the patients, who was also diagnosed of POI at 32 years old. These arguments strongly suggest that a defective AMH could play a role in the development of POI. This is supported by previous studies with knock out mice models, which show an earlier depletion of the ovarian follicle pool due to a faster recruitment of the primordial follicles that constitute the ovarian reserve. The sequencing of the BMP15 gene led to the identification of two new variants not identified among controls but not predicted to be deleterious. Interestingly, one variant previously reported in POI women and predicted to be deleterious for the protein function, was found in a Sub-Saharan African POI patient as well as in our control cohort. This variant was already studied functionally and shown to have a reduced biological activity. However, we identified this variant in 6% of the Sub-Saharan African control population, which suggests that this is a more prevalent variant in the African genotype and raises up the importance of the ethnicity when studying genetic variants.The sequencing of the other genes (FSHR, GDF9 and AMHR2) did not lead to any association with POI.In the second part of the study, 24 women with Turner syndrome and POI were analysed in terms of reproductive, obstetrical and perinatal outcome after oocyte donation. This specific group of patients was chosen because of their specific systemic anomalies that could interfere with pregnancy outcome and because very few reports have been published on this subject. In the 23 patients finally transferred, the pregnancy rate was similar to that obtained after oocyte donation in other cohorts. There was a miscarriage rate of 23% and a rate of complications of pregnancy as high as 50%, mainly caused by pregnancy-induced hypertensive diseases. Four women at risk of genetic POI were included in the fertility preservation program in order to vitrify their oocytes. Three of them have already vitrified successfully their oocytes but none of them has yet used them.Oocyte vitrification represents a new hope for those women with genetic risk of POI to be able to carry a pregnancy with their own oocytes.In conclusion, three variants of the AMH gene could be implicated in the development of POI as demonstrated by the reduced in vitro bioactivity of the variants and the familial segregation of the cases. Since then, it sounds plausible to propose AMH sequencing in the case of familial POI and secondary amenorrhea.In the BMP15 gene, 2 new variants were predicted to be tolerated. A potentially deleterious variant of the BMP15 gene (L148P) previously associated to POI, was also found in 6% of the Sub-Saharan African controls which suggests that it is a common variant in the African ethnic. No clear association was found between the other tested candidate genes and our POI cohort.Regarding Turner’s Syndrome pregnancies, we can conclude that they are high-risk pregnancies that need of a multidisciplinary follow-up before and during pregnancy.Oocyte cryopreservation represents a new tool to be offered to women at risk of genetic POI to preserve their fertility, but not without previous genetic counselling. / Doctorat en Sciences médicales (Médecine) / info:eu-repo/semantics/nonPublished

The age range at diagnosis, complexity of the condition, and sensitive nature of the issues involved in a diagnosis of Turner syndrome (TS), present specific challenges for health professionals in sharing information. Little is known about the perceived information needs of girls with TS and their parents. A flexible qualitative design, guided by the principles of symbolic interactionism was employed in this exploratory study. This design enabled meanings girls and their parents attached to TS, how they interpreted, shared and valued information to be uncovered. A purposive sample of 15 families with daughters aged 9 to 16 years were recruited from a tertiary paediatric endocrinology clinic. Girls and parents participated in a total of 27 recorded semi-structured interviews. Data were analysed using the framework approach and the constant comparative method. Analysis revealed how girls and their parents interpreted and used information within the context of their everyday experiences of living with TS. Three activities were described by families: gathering and receiving, making sense of, and using and sharing information. Throughout these activities, themes of uncertainty, normalising and identity were present. A series of tensions described by the girls and their parents illustrated diverse approaches to the management of information. Meanings assigned to TS by girls and their parents influenced when, what and how information was shared with others. Despite a wealth of information, the girls and their parents described unfulfilled information needs. The interviews were dominated by discussion of the social implications of the condition and more specifically to social functioning, puberty and infertility. Parents were the primary source of information. These findings provide a basis for developing evidence based approaches to information sharing.

Orientadores: Andrea Trevas Maciel Guerra, Roberto Benedito de Paiva e Silva / Dissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-04T01:13:43Z (GMT). No. of bitstreams: 1 Suzigan_LigiaZuppiConceicao_M.pdf: 719674 bytes, checksum: 0fd7aced48effd8567e687fc3397c183 (MD5) Previous issue date: 2004 / Resumo: Objetivo: Identificar a percepção das pacientes com Síndrome de Turner (ST) a respeito de sua condição. Casuística e Método: Entrevistas individuais com 36 pacientes com ST entre 15 e 25 anos e mais de 2 anos de acompanhamento, abordando temas referentes ao impacto no momento do diagnóstico, compreensão a respeito da ST, seu impacto sobre a vida atual e expectativas de futuro. Resultados: Apenas 1/3 compreendeu o diagnóstico de ST imediatamente, e o sentimento associado a esse momento foi freqüentemente neutro (17) ou de preocupação (12). Cerca de 1/3 não soube explicar a etiologia da ST, não relacionou a ela os sintomas que apresenta e(ou) acredita haver cura. Em sua vida atual, embora a grande maioria declare que a ST não interfere em sua vida (2/3) e se considere feliz (3/4), em mais da metade dos casos há evidências de dificuldades de interação social e de relacionamento amoroso, baixa auto-estima, insatisfação com a aparência física, em particular a baixa estatura e sofrimento com a questão da esterilidade. Suas expectativas de futuro estão predominantemente ligadas a trabalho e estudo; mesmo estando com 19 anos, em média, uma em cada duas ainda espera crescer. Conclusão: Além da abordagem médica da ST, é fundamental que o conhecimento das pacientes a respeito dessa síndrome e as questões referentes a esterilidade, baixa estatura, auto-imagem e interações sociais sejam alvo de atenção especial e contínua a partir do momento do diagnóstico; a situação ideal seria a de atuação de um psicólogo juntamente com a equipe médica / Abstract: Objective: To identify the perception of patients with Turner syndrome (TS) about their condition. Methodology: Thirty-six women with TS, aged between 15 and 25 years and with over two years of medical follow-up, were individually interviewed about: the impact of TS at the moment of the diagnosis, their understanding of the syndrome, its effect in their current lives and their expectations for the future. Results: Only one third of the patients understood the diagnosis immediately and their feelings associated to that moment were neutral (17) or concerned (12). About one third of the interviewed women were unable to explain the etiology of TS, they have not related their symptoms with TS and/or believe there might be a cure for it. Although most say that the syndrome has no interference in their current lives (2/3) and that they consider themselves happy persons (3/4), in more than half of the interviews there are evidences of difficulties with social interactions and love relationships, low self-esteem, dissatisfaction with their physical appearances, mainly short stature, and worries about infertility. Their hopes for the future refer mainly to study and have a job; growing up expectation was mentioned by one in two of the women, in spite of their mean age of 19 years. Conclusion: Besides medical treatment, it is important that the knowledge of the patients about the syndrome and some issues as infertility, short stature, self-image and social interactions receive proper and continuous attention from the moment of the diagnosis. The ideal situation should be a joint-action of the psychologist and the medical team / Mestrado / Saude da Criança e do Adolescente / Mestre em Saude da Criança e do Adolescente

Orientador: Andréa Trevas Maciel-Guerra / Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciências Médicas / Made available in DSpace on 2018-08-24T13:17:10Z (GMT). No. of bitstreams: 1 Carvalho_AnneliseBarretode_D.pdf: 1678960 bytes, checksum: 38e5284e80abdc6135eaf891cd8d4e9a (MD5) Previous issue date: 2014 / Resumo: A síndrome de Turner (ST) tem como sinais mais frequentes baixa estatura e disgenesia gonadal; são também encontrados dismorfismos, malformações e afecções adquiridas. O fenótipo é muito variável, dificultando o estabelecimento da suspeita clínica e o diagnóstico precoce. O objetivo deste estudo foi identificar os fatores que discriminam pacientes com ST daqueles sem essa síndrome, a fim de auxiliar os médicos, particularmente pediatras, a levantar precocemente essa hipótese e solicitar o exame do cariótipo. A amostra incluiu 516 pacientes do sexo feminino com essa suspeita clínica (por baixa estatura e(ou) hipogonadismo e(ou) dismorfismos característicos) encaminhadas a serviço especializado em distúrbios da diferenciação do sexo na Universidade Estadual de Campinas, entre janeiro de 1989 e fevereiro de 2012. Foi realizado um estudo descritivo de corte transversal, com a comparação entre as pacientes com e sem ST em relação a dados de história clínica e exame físico por meio do Teste do Qui-Quadrado, Teste T de Student e análises de regressão logística univariada e múltipla. Em 186 casos (36%), a ST foi confirmada pelo cariótipo, com predominância de anomalias estruturais dos cromossomos sexuais (41,9%). Nos casos de ST, o peso ao nascimento (p= 0,024) e a estatura ao diagnóstico em escore z (p<0,001) foram menores, e o índice de massa corpórea (p<0,001), maior. Entre as pacientes de mais de 13 anos e aquelas de mais de 16 anos, foram encontrados com maior frequência atraso puberal (p<0,001) e amenorreia primária (p=0,003), respectivamente, no grupo de ST. Na análise univariada, 19 dos 26 sinais dismórficos avaliados no exame físico foram significativamente mais frequentes na ST; na multivariada, o conjunto de variáveis que permitiu discriminar os grupos com e sem ST na amostra foi, em ordem decrescente: linfedema residual de membros, pescoço alado, cúbito valgo, unhas hiperconvexas, tórax alargado, anomalias de mamilos, nevos pigmentados, hipoplasia de metacarpos, maior peso e menor estatura. A investigação de ST deve ser realizada não apenas na presença de dismorfismos típicos, mas também em fenótipos menos evidentes / Abstract: In Turner syndrome (TS) the most frequent features are short stature and gonadal dysgenesis; there may also be dysmorphic signs, congenital malformations and acquired diseases. The phenotype is highly variable, which makes it difficult to establish the clinical suspicion and to achieve early diagnosis. The aim of this study was to identify factors that discriminate patients with TS from those without this syndrome in order to help physicians, particularly pediatricians, to raise this hypothesis and request a karyotype. The sample comprised 516 female patients with this clinical suspicion (with short stature and(or) hypogonadism and(or) typical dysmorphisms) which were referred to a specialized service for disorders of sex development at State University of Campinas from January 1989 to February 2012. A descriptive transversal study was conducted, with comparison between patients with and without TS regarding clinical history and physical examination by qui-square test, t test and univariate and multiple logistic regression analyses. In 186 cases (36%) TS was confirmed by karyotyping, with predominance of structural sex chromosome abnormalities (41.9%). Patients with TS had lower birth weight (p= 0.024), lower height z-score (p<0.001) and higher body mass index (p<0.001). Among patients aged more than 13 years and those aged more than 16 years there were more frequently pubertal delay (p<0.001) and primary amenorrhea (p= 0.003), respectively, in the group of TS. In univariate analysis, 19 out of the 26 dysmorphic signs were significantly nore frequent in TS patients; in multivariate analysis, the set of variables that discriminated between patients with and without TS were, in descending order: residual lymphedema in limbs, webbed neck, cubitus valgus, hyperconvex nails, broad chest, nipple anomalies, pigmented nevi, hypoplastic metacarpals, hipoplasia de metacarpos, higher weight and lower height. Investigation of TS should be performed not only in the presence of typical dysmorphisms but also in less striking phenotypes / Doutorado / Pediatria / Doutora em Ciências

At the Third Turner Resource Network Symposium, a working group presented the results of collaborative discussions about the importance of autopsy in Turner syndrome (TS). Considerable gaps in understanding the causes of death in TS can only be closed by more frequent death investigations and autopsies. The presentation included an overview of autopsy methods, strategies for utilizing autopsy, and biobanking to address research questions about TS, and the role of palliative care in the context of autopsy. This review highlights strategies to promote autopsy and tissue donation, culminating with an action plan to increase autopsy rates in the TS community.

Orientador: Gil Guerra Junior / Tese (doutorado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas / Made available in DSpace on 2018-08-12T22:38:13Z (GMT). No. of bitstreams: 1 Baldin_AlexandreDuarte_D.pdf: 3742005 bytes, checksum: 7ce2f9dcd4996bb0f737cd9307682cf5 (MD5) Previous issue date: 2009 / Resumo: Objetivo: Avaliar medidas de composição e proporções corporais em mulheres adultas jovens com síndrome de Turner (ST) tratadas ou não com rhGH e comparar a um grupo de mulheres saudáveis da mesma faixa etária. Casuística: Foi composta de 52 pacientes com ST não-tratadas com rhGH (23,0 + 5,8 anos), 20 tratadas (21,6 + 1,6 anos) e 133 mulheres normais (22,9 + 3,2 anos), eutireoidianas e com ciclos menstruais há pelo menos dois anos. Métodos: Todas as pacientes foram submetidas a medidas antropométricas de altura em pé, altura sentada, peso, comprimentos da mão e do pé, envergadura, perímetro cefálico, diâmetros biilíaco e biacromial. A composição corporal foi avaliada por bioimpedância elétrica tetrapolar, circunferências da cintura e quadril, relação cintura/quadril, perímetro braquial, espessura da prega cutânea tricipital, áreas magra e gorda do braço. Foram avaliados o cariótipo das pacientes com ST, a necessidade de reposição estrogênica, o histórico de hipotireoidismo e a idade de início, duração e dose do rhGH. Resultados: A idade de início do rhGH variou de 8,2 a 15,1 anos (10,2 + 1,2 anos), a duração do tratamento de 2,8 a 7,9 anos (3,6 + 1,6 anos), com dose média de 1,1 UI/Kg/semana (de 0,8 a 1,5 UI/Kg/semana). Houve associação entre a idade de início e o tempo de uso do rhGH, mas estas não se associaram com a dose do rhGH. Em relação às proporções corporais, as pacientes com ST não apresentaram diferenças significativas entre aquelas que usaram e as que não usaram rhGH A diferença acorreu no comprimento da mão, que foi maior nas pacientes que usaram rhGH. Todas as variáveis antropométricas, com exceção do perímetro cefálico, nas pacientes com ST (tratadas ou não com rhGH) foram diferentes em relação às mulheres normais de mesma faixa etária. Em relação à composição corporal, o peso e o quadril foram menores em relação ao grupo controle e o IMC e a % de massa gorda foi maior. Nas pacientes com ST não foi observada associação entre o cariótipo, o antecedente de hipotireoidismo e a necessidade reposição estrogênica. Conclusão: Nesta amostra de pacientes com ST não ocorreu diferenças na maioria das variáveis analisadas se comparadas as que usaram ou não rhGH. Provavelmente, isto ocorra devido ao tratamento tardio e/ou por tempo de uso do rhGH. As únicas diferenças encontradas foram no comprimento da mão, peso, IMC, quadril, mostrando a importância da avaliação das proporções corporais, em especial das extremidades, durante o tratamento com rhGH. / Abstract: Objective: To evaluate body composition and corporal proportion measurements in young adult women with Turner syndrome (TS) treated or not with rhGH and comparing with a group of healthy women with the same age group. Patients: Was composed of 52 patients with non rhGH treated TS ranging (23,0 + 5,8 years old), 20 rhGH treated (21,6 + 1,6 years old) and 133 healthy women (22,9 + 3,2 years old), euthyroid and with a menstrual cycle of at least two years. Methods: All patients were submitted to anthropometric measurements of height, sitting height, weight, hand and foot length, arm span, head circumference, biiliac and biocromial diameters. The body composition was evaluated by bioelectrical Impedance (BIA), waist and hip circumferences, waist/hip relation, arm circumference, triceps skinfold thickness, arm fat and lean areas. The karotype of TS patients, estrogenic treatment, hipotireoidism history and the initial age, duration and rhGH dose were also evaluated. Results: The initial age of rhGH ranged from 8.2 to 15.1 years old (10.2 + 1.2) and the treatment duration ranged from 2.8 from 7.9 years old (3.6 + 1.6), with mean dose of 1.1 U/Kg/week (0.8 - 1.5 U/Kg/week). There was association between age of initiation and the period of use of rhGH, but those didn't get association with dose of rhGH. The patients with TS did not present significant statistic differences in the majority of anthropometric variables among the women used and that didn't use rhGH. The difference occurred in the hand length, in wich variable was greater in the patients who used rhGH in relation to those who did not use. All anthropometric variables, with exception of head circumference, in the patients with TS (treated or not with rhGH) were different in relation to the healthy women in the same age group. In relation to body composition, the measurements of weight and hip were lower in relation to control group and the BMI was greater. In the patients with TS, an association between karyotype, preceding hipotireoidism and the necessity of hormonal treatment were not observed. Conclusion: In this sample of patients with TS there were no differences in the majority of analyzed variables among the group that used and did not use rhGH. Probably this result has occurred due to the late treatment and/or use time of rhGH. The singular differences occurred in the hand length, weight, BMI, and hip, showing the importance of evaluation of corporal proportion, especially the extremities, during the treatment with rhGH. / Doutorado / Doutor em Saude da Criança e do Adolescente