Navegando por Palavras-chave "Congenital adrenal hyperplasia"
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- ItemSomente Metadadados21-hydroxylase deficiency transiently mimicking combined 21- and 11 beta-hydroxylase deficiency(Walter De Gruyter Gmbh, 2008-05-01) Tonetto-Fernandes, Vânia [UNIFESP]; Lemos-Marini, Sofia Helena Valente de; Mello, Maricilda Palandi de; Ribeiro-Neto, Luciane Maria [UNIFESP]; Kater, Claudio Elias [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade Estadual de Campinas (UNICAMP)21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11 beta OHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 210HD and 11 beta OHD (AC21,11OHD) have been occasionally reported. A 6 year-old girl, born with ambiguous genitalia and salt-loss, had serum elevations (ng/dl) of androstenedione (>1,000), 17-hydroxy-progesterone (17OHP; 38,483), 21-deoxycortisol (21DF; 23,338), and 11-deoxycortisol (S; 4,928), suggesting AC21,11OHD. CYP21A and CYP11B1 genotyping identified mutations only in the former. On follow-up, serum S became normal but 17OHP and 21DF were still elevated. ACTH stimulation disclosed elevated levels of 17OHP and 21DF, but unresponsive S and undetectable deoxycorticosterone. The hormonal pattern initially suggested AC21,11OHD, but subsequent normalization of S showed transient 11-hydroxylase inhibition. This may have occurred by enzyme or co-enzyme immaturity or functional discrepancy, but also by selective inhibition of 11 beta-OH by excess intra-adrenal concentration of androgens, acting as pseudo-substrates for this enzyme.
- ItemSomente MetadadadosClassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density(Springer, 2003-01-01) Freire, Patricia Oliveira de Almeida; Lemos-Marini, Sofia Helena Valente de; Maciel-Guerra, Andrea Trevas; Morcillo, André Moreno; Baptista, Maria Teresa Matias; Mello, Maricilda Palandi de; Guerra Junior, Gil; Universidade Federal de São Paulo (UNIFESP); Universidade Estadual de Campinas (UNICAMP)Glucocorticoids are essential in the treatment of patients with congenital adrenal hyperplasia (CAH). the opposite actions of glucocorticoids and androgens in bone mass achievement justify a study of bone mineral density (BMD) in these patients. We evaluated BMD in patients with CAH due to classic 21-hydroxylase (CYP21A2) deficiency and investigated the involvement of clinical and laboratory factors in the BMD. This study assessed the clinical and laboratory factors involved in BMD of 45 patients at the Pediatric Unit of Endocrinology, UNICAMP, who had been diagnosed as having classical CAH due to CYP21A2 deficiency including molecular characterization. the sample consisted of 28 females and 17 males; 23 salt-wasting (SW) and 22 simple virilizing (SV) cases, with average of 9.9 years (ranges, 5.1-16.3 years) when bone densitometry was performed. the DEXA method was used for calculating the areal BMD Z score in L2-L4. the variables were analyzed with reference to the BMD for chronological age (BMD/CA), height age (BMD/HA), and bone age (BMD/BA). the mean Z score for BMD/CA was 0.08 +/- 1.21 (-2.55 to 2.64); it was 0.29 +/- 1.33 (-2.01 to 4.00) for BMD/HA, and -0.90 +/- 1.24 (-3.41 to 1.92) for BMD/BA. the BMD/CA was significantly lower in females and in patients on treatment for a long period and of more advanced chronological age. Weight and body mass index (BMI) Z scores showed a positive correlation with advanced BA, the higher the weight and BMI Z scores, the higher the BMD/HA. the BMD/BA values were significantly higher in the group in which BA was closer to CA. the BMD/BA value was significantly lower when compared to the value obtained with height and chronological ages. Sex, duration of treatment, weight, BMI, and bone age have an effect on areal BMD in patients with CAH due to CYP21A2 deficiency, which may be underestimated when evaluated in relation to CA and HA.
- ItemSomente MetadadadosCongenital Adrenal Hyperplasia, Ovarian Failure and Ehlers-Danlos Syndrome due to a 6p Deletion(Karger, 2014-01-01) Moyses-Oliveira, Mariana [UNIFESP]; Mancini, Tatiane Iris [UNIFESP]; Takeno, Sylvia Satomi [UNIFESP]; Rodrigues, Andresa De Santi [UNIFESP]; Bachega, Tania Aparecida Sartori Sanchez [UNIFESP]; Bertola, Debora [UNIFESP]; Melaragno, Maria Isabel [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)Cryptic deletions in balanced de novo translocations represent a frequent cause of abnormal phenotypes, including Mendelian diseases. in this study, we describe a patient with multiple congenital abnormalities, such as late-onset congenital adrenal hyperplasia (CAH), primary ovarian failure and Ehlers-Danlos syndrome (EDS), who carries a de novo t(6;14)(p21;q32) translocation. Genomic array analysis identified a cryptic 1.1-Mb heterozygous deletion, adjacent to the breakpoint on chromosome 6, extending from 6p21.33 to 6p21.32 and affecting 85 genes, including CYP21A2,TNXB and MSH5. Multiplex ligation-dependent probe amplification analysis of the 6p21.3 region was performed in the patient and her family and revealed a 30-kb deletion in the patient's normal chromosome 6, inherited from her mother, resulting in homozygous loss of genes CYP21A1P and C4B. CYP21A2 sequencing showed that its promoter region was not affected by the 30-kb deletion, suggesting that the deletion of other regulatory sequences in the normal chromosome 6 caused a loss of function of the CYP21A2 gene. EDS and primary ovarian failure phenotypes could be explained by the loss of genes TNXB and MSH5, a finding that may contribute to the characterization of disease-causing genes. the detection of this de novo microdeletion drastically reduced the estimated recurrence risk for CAH in the family. (C) 2014 S. Karger AG, Basel
- ItemAcesso aberto (Open Access)Desenvolvimento de um radioimunoensaio para 21-deoxicortisol sérico e sua potencial aplicação no diagnóstico da hiperplasia adrenal congênita(Sociedade Brasileira de Endocrinologia e Metabologia, 2003-04-01) Tonetto-Fernandes, Vânia [UNIFESP]; Ribeiro-Neto, Luciane M. [UNIFESP]; Verreschi, Ieda Therezinha do Nascimento [UNIFESP]; Fiet, Jean; Vieira, José Gilberto H. [UNIFESP]; Kater, Claudio Elias [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Hospital Infantil Darcy Vargas Serviço de Endocrinologia Pediátrica; Hôpital Saint Louis Service de Biologie HormonaleSerum 21-deoxycortisol (21DF) has been considered a useful hormonal marker for the diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). Although several radioimmunoassay (RIA) methods for 21DF have been reported, none are commercially available. We developed a RIA adapted for 21DF determination, preceded by ether-extraction and liquid chromatographic separation (HPLC) of samples. The assay was employed to evaluate children (15F/10M) with the classic form of 21OHD and a control group (5F/8M). The antibody obtained, in addition to efficient HPLC separation, permitted tritiated cortisol instead of 21DF to be used, since labeled ³H-21DF is expensive and difficult to obtain. Serum cortisol levels were reduced in patients with 21OHD (48h following therapy withdrawal) as compared to controls (2.1±2.1 vs. 16.2±7.0mug/dl), whereas serum levels of 21DF were significantly elevated (1,359±853ng/dl, ranging from 434 to 3,079) in the former, but consistently below the sensitivity limit of the assay (156ng/dl) in the latter group. The reported method, although devoid of sensitivity for its application in normal subjects, permits 21DF to be quantified in patients with 21OHD, with adequate sensitivity and specificity to diagnose and follow patients with this condition.
- ItemAcesso aberto (Open Access)Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency(Sociedade Brasileira de Endocrinologia e Metabologia, 2010-12-01) Neres, Marcos S. [UNIFESP]; Auchus, Richard J.; Shackleton, Cedric H. L.; Kater, Claudio Elias [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); University of Texas Southwestern Medical Center Department of Clinical Sciences; University of Birmingham Division of Medical SciencesOBJECTIVES: (1) Characterize serum (S) and urinary (U) steroid metabolites in complete CYP17 deficiency (cCYP17D); (2) analyze the relative 17α-hydroxylase (17OH) and 17,20-lyase (17,20L) activities in vivo; and (3) comparedata from the two most prevalent mutations in Brazil. SUBJECTS AND METHODS: 20 genotyped cCYP17D patients from a previously reported cohort were homozygous for W406R or R362C; 11 controls were CYP17 wild types (WT). WT and cCYP17D patients had S and U samples drawn to measure: cortisol (F), corticosterone (B), deoxycorticosterone (DOC), 18OH-B, 18OH-DOC, and 17OHP; and tetrahydro (TH)-B, THA, THDOC, THF+5α-THF, TH-cortisone, androsterone, etiocholanolone, 5-pregnenediol, 17OH-pregnenolone and pregnanetriol. RESULTS: Compared to WT, cCYP17D patients had marked elevations of B, DOC, 18OH-B and 18OH-DOC, whereas 17OHP, F and adrenal androgens (AA) were reduced; U steroids parallel S findings. Metabolite ratios revealed that both 17OH and 17,20L activities were impaired in cCYP17D. There were nodifferences between W406R andR362C mutations. CONCLUSIONS: cCYP17D patients show parallel overproduction/overexcretion of 17-deoxysteroids, and marked reduction of F and AA. In addition to 17OH, 17,20-L activity was also impaired in cCYP17D. W406 and R362C mutations disclose similar Sand U patterns.
- ItemAcesso aberto (Open Access)Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism(Sociedade Brasileira de Endocrinologia e Metabologia, 2013-03-01) Cordeiro, Giovana Vignoli; Silva, Ivani Novato; Goulart, Eugênio Marcos Andrade; Chagas, Antônio José das; Kater, Claudio Elias [UNIFESP]; Universidade Federal de Minas Gerais Department of Pediatrics; Universidade Federal de São Paulo (UNIFESP)OBJECTIVE: The purpose of this study was to identify factors that might interfere with reaching the final height in patients with 21-hydroxylase deficiency (21-OHD). SUBJECTS AND METHODS: Thirty-one patients with classical 21-OHD who reached their FH in our Institution were evaluated in order to compare the Z score for final height (FHZ) with: (1) the target height, (2) the standard height for the population, and (3) the hydrocortisone treatment schedule. RESULTS: The FHZ of -2.13 ± 1.11 had a significant negative correlation with the hydrocortisone doses used throughout the period of study. Patients who reached FH within the normal population range were those who received lower doses of hydrocortisone, as compared to those whose FH remained below -2 SDS. CONCLUSION: We conclude that careful treatment adjustments have a major influence on growth of children with CAH, and that the dose range for hydrocortisone replacement that does not lead to side effects is relatively narrow. The better height outcome was achieved in 21-OHD patients who received lower doses of hydrocortisone.
- ItemSomente MetadadadosGender Dysphoria in a 62-Year-Old Genetic Female With Congenital Adrenal Hyperplasia(Springer/Plenum Publishers, 2016) Silveira, Mariana Telles [UNIFESP]; Knobloch, Felicia; Janovsky, Carolina Castro Porto Silva [UNIFESP]; Kater, Claudio Elias [UNIFESP]We report a case of gender dysphoria (GD) in a 62-year-old genetic female patient, raising the pros and cons of performing corrective surgery later in life. This 46,XX DSD patient was registered and reared as a girl
- ItemAcesso aberto (Open Access)Hiperplasia adrenal congênita por deficiência da 17alfa hidroxilase: uma doença subdiagnosticada. Elevada frequência de diagnóstico preliminar incorreto em uma grande coorte brasileira(Universidade Federal de São Paulo (UNIFESP), 2016-08-31) Batista, Rafaela Fontenele [UNIFESP]; Kater, Claudio Elias [UNIFESP]; http://lattes.cnpq.br/1250728429385385; http://lattes.cnpq.br/6392716804773599; Universidade Federal de São Paulo (UNIFESP)A Hiperplasia adrenal congênita (HAC) por deficiência da 17alfa-hidroxilase é uma doença possivelmente subdiagnosticada no Brasil e provavelmente no resto do mundo. Na coorte brasileira, houve mais de 90% de diagnósticos iniciais incorretos. Ainda assim, é a forma mais frequente de HAC no Brasil, atrás da deficiência de 21-Hidroxilase; ? A hipertensão arterial sistêmica está presente em mais de 90% dos pacientes na apresentação inicial, fazendo com que a hipertensão essencial seja o diagnóstico inicial mais citado (51,7%), tanto isolado como associado a outras possibilidades; ? As manifestações relacionadas a hipocalemia, presente em quase 90% dos pacientes na apresentação inicial, levam a uma variedades de diagnósticos improváveis relacionados à doenças neurológicas e músculo-esqueléticas, como miopatia inflamatória, polineuropatia periférica, poliradiculoneurite, distrofia simpático-reflexa e síndrome vaso-vagal; ? Mais de 70% dos pacientes são impúberes ao diagnóstico (Tanner I), induzindo ao diagnóstico de disgenesia gonadal pura, citado em 34,4% dos pacientes, seguido de síndrome de resistência androgênica (nos pacientes XY), em 20,7%; ? A alta frequência de erros diagnósticos está relacionada à raridade da doenças e ao relativo desconhecimento de sua fisiopatogenia, associado ao fato de os sintomas cardinais não surgirem obrigatoriamente num mesmo momento; as manifestações clínicas isoladas permitem um vasto leque de diagnósticos diferenciais mais conhecidos; ? A baixa disponibilidade de acesso a dosagem de determinados esteroides, associada à baixa solicitação de exames críticos (cariótipo, US pélvico), impede ou atrasa a definição diagnóstica da doença; ? Finalmente, as manifestações clínicas de hipertensão de padrão mineralocorticoide (hipocalemia e renina baixa) somadas a ausência de características sexuais secundárias e amenorreia (com níveis elevados de gonadotrofinas de progesterona) são fortes evidências para a suspeição e diagnóstico da doença; ? Por se tratar de uma condição de herança autossômica recessiva, o diagnóstico final é confirmado pela identificação de mutações no gene CYP17A1, permitindo assim a investigação de outros membros da família.
- ItemAcesso aberto (Open Access)Hiperplasia adrenal congênita: estudo qualitativo sobre definição e redefinição sexual, cirurgia de dilatação e apoio psicológico (parte II)(Sociedade Brasileira de Endocrinologia e Metabologia, 2009-12-01) Telles-Silveira, Mariana [UNIFESP]; Tonetto-Fernandes, Vânia F. [UNIFESP]; Schiller, Paulo [UNIFESP]; Kater, Claudio Elias [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Hospital Infantil Darcy VargasOBJECTIVE: To identify relevant questions related to sex definition and re-designation and reconstructive surgery in patients with congenital adrenal hyperplasia (CAH), and to understand the role of the psychologist in providing care for these patients. METHODS: We selected 21 subjects: 7 pediatric endocrinologists from 5 Brazilian Public Health System institutions, 9 parents and 6 patients with CAH, according to a qualitative research model. In this paper, 3 of the studied categories are analyzed: sex definition and re-designation, reconstructive surgery/vaginal dilation, and psychology. RESULTS: Parents' main anguish relates to the situation of an unnamed sex at birth, whereas sex re-designation was distressful to physicians. A sense of loneliness when dealing with the disease and treatment was a common anguish among patients; dilation procedures were the major complaint. In general, physicians recommend that genital reconstructive surgery be performed early on to avoid future trauma. CONCLUSIONS: In such a complex scenario, it is remarkable that not all the reference service staff have a psychologist on duty. Difficulties to deal with questions involving sexuality were evident and dilation procedures are an additional source of trauma for these patients.
- ItemAcesso aberto (Open Access)Hiperplasia adrenal congênita: estudo qualitativo sobre doença e tratamento, dúvidas, angústias e relacionamentos (parte I)(Sociedade Brasileira de Endocrinologia e Metabologia, 2009-12-01) Telles-Silveira, Mariana [UNIFESP]; Tonetto-Fernandes, Vânia F. [UNIFESP]; Schiller, Paulo [UNIFESP]; Kater, Claudio Elias [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Hospital Infantil Darcy Vargas; Hospital e Maternidade São LuizOBJECTIVE: To understand the meanings/thoughts of a group of parents, patients and physicians regarding congenital adrenal hyperplasia (CAH), and to evaluate their anguishes, doubts and anxieties. METHODS: We selected 21 subjects: 7 pediatric endocrinologists from five Brazilian Public Health System institutions, 9 parents and 6 patients with CAH, according to the qualitative research model. Three of the studied categories are presented: disease and treatment, doubts and anguishes and relationships. RESULTS: Parents' main anguishes relate to the situation of an unnamed sex at birth. A sense of loneliness when dealing with the disease is the major anguish among patients, whereas physicians show hopelessness with the passivity parents and patients. CONCLUSIONS: The apparent submissiveness of patients/parents during consultations must be evaluated cautiously. University Hospitals outpatient clinic dynamics have a direct effect on this behavior: physicians do not talk openly with parents who in turn do not talk with their children, whereas patients chose to protect their parents from additional suffering. Thus, some miscommunication is noticeable among these subjects. These observations suggest that a special mindful measure should be built for these patients.
- ItemSomente MetadadadosPerformance of phalangeal quantitative ultrasound parameters in the evaluation of reduced bone mineral density assessed by DX in patients with 21 hydroxylase deficiency(Elsevier B.V., 2014-07-01) Goncalves, Ezequiel Moreira; Sewaybricker, Leticia Esposito; Baptista, Fatima; Silva, Analiza Mónica; Carvalho, Wellington Roberto Gomes; Santos, Allan de Oliveira; Mello, Maricilda Palandi de [UNIFESP]; Lemos-Marini, Sofia Helena Valente de; Guerra-Junior, Gil; Universidade Estadual de Campinas (UNICAMP); Universidade Federal de São Paulo (UNIFESP); Univ Lisbon; Univ Fed Maranhao; PhD Student Program Child & Adolescent HlthThe purpose of this study was to verify the performance of quantitative ultrasound (QUS) parameters of proximal phalanges in the evaluation of reduced bone mineral density (BMD) in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21 OHD). Seventy patients with 21 OHD (41 females and 29 males), aged between 6-27 y were assessed. the QUS measurements, amplitude-dependent speed of sound (AD-SoS), bone transmission time (BTT), and ultrasound bone profile index (UBPI) were obtained using the BMD Sonic device (IGEA, Carpi, Italy) on the last four proximal phalanges in the non-dominant hand. BMD was determined by dual energy X-ray (DXA) across the total body and lumbar spine (LS). Total body and LS BMD were positively correlated to UBPI, BTT and AD-SoS (correlation coefficients ranged from 0.59-0.72, p < 0.001). in contrast, when comparing patients with normal and low (Z-score < -2) BMD, no differences were found in the QUS parameters. Furthermore, UBPI, BTT and AD-SoS measurements were not effective for diagnosing patients with reduced BMD by receiver operator characteristic curve parameters. Although the AD-SoS, BTT and UBPI showed significant correlations with the data obtained by DXA, they were not effective for diagnosing reduced bone mass in patients with 21 OHD. (E-mail: ezequiel@fcm.unicamp.br) (c) 2014 World Federation for Ultrasound in Medicine & Biology.
- ItemSomente MetadadadosRandomised controlled trial of growth effect of hydrocortisone in congenital adrenal hyperplasia(British Med Journal Publ Group, 1997-09-01) Silva, Ivani Novato; Kater, Claudio Elias [UNIFESP]; Cunha, Cristiane de Freitas; Viana, Marcos Borato [UNIFESP]; Universidade Federal de São Paulo (UNIFESP); Universidade Federal de Minas Gerais (UFMG)The influence of 15 or 25 mg/m(2) of daily oral hydrocortisone with fludrocortisone 0.1 mg/day on growth and laboratory findings was evaluated in a prospective randomised crossover trial over 12 months in 26 children with 21-hydroxylase deficiency. Nine non-salt losers had fludrocortisone stopped for a further six month period. Height velocity was significantly decreased during treatment with 25 mg/m(2) as compared with 15 mg/m(2). This was the most sensitive indicator of corticosteroid treatment excess. A dose dependent effect upon plasma concentrations of 17-hydroxyprogesterone, testosterone, and androstenedione was found but increased values were still detected in more than half of the determinations made during the 25 mg/m(2) period. Height velocity and 17-hydroxyprogesterone concentrations were positively correlated. Growth hormone response to clonidine stimulation and insulin-like growth factor-1 concentrations were both within reference values and there was no difference between treatment periods. Withdrawal of fludrocortisone did not result in any difference for the non-salt losers. It was concluded that 25 mg/m(2) of hydrocortisone depressed growth in children with congenital adrenal hyperplasia, adn that full suppression, or even normalisation, of plasma concentrations of 17-hydroxyprogesterone and androgens should not be considered a treatment goal, but instead an indication of corticosteroid treatment excess.
- ItemSomente MetadadadosTotal urogenital mobilization by CAH: A step-by-step illustration of the technique(Elsevier B.V., 2015-02-01) Macedo, Antonio [UNIFESP]; Cruz, Marcela Leal da [UNIFESP]; Liguori, Riberto [UNIFESP]; Trivelato, Rodrigo [UNIFESP]; Ottoni, Sergio Leite [UNIFESP]; Gomes Oliveira, Diego Estevam [UNIFESP]; Souza, Georgia Rubiane [UNIFESP]; Ortiz, Valdemar [UNIFESP]; Universidade Federal de São Paulo (UNIFESP)IntroductionCongenital adrenal hyperplasia (CAH) resulting from deficient 21-hydroxylase activity is an autosomal recessive disorder with an incidence of 1: 5000-25,000 in Caucasian populations. Despite various techniques to treat CAH, total urogenital mobilization (TUM) has gained popularity. This technique has low morbidity, and can be performed by the perineal route with the patient in the dorsal lithotomy position without the need to separate the urethra from the vagina. We aim to demonstrate in this video the TUM technique step by step.MethodsA 9-month-old child, born with ambiguous genitalia (Prader 3) with a 46XX karyotype and CAH diagnosis presented to our facility. Endoscopy showed a 2-cm common channel.Results and discussionThe patient was treated as described in the video and she had an uneventful clinical outcome with complete healing. TUM is an excellent alternative for treating CAH.