Browsing by Subject "Congenital adrenal hyperplasia"
Now showing items 1-10 of 14
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21-hydroxylase deficiency transiently mimicking combined 21- and 11 beta-hydroxylase deficiency
(Walter De Gruyter Gmbh, 2008-05-01)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 ...
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Accuracy of anthropometric measurements in estimating fat mass in individuals with 21-hydroxylase deficiency
(Elsevier B.V., 2012-10-01)Objective: the use of anthropometric measurements to estimate the percentage of body fat (%BF) is easy and inexpensive. However, the accuracy of these methods in patients with 21-hydroxylase deficiency (21OHD) has not been ...
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Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a cross-sectional study of factors involved in bone mineral density
(Springer, 2003-01-01)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 ...
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Congenital Adrenal Hyperplasia, Ovarian Failure and Ehlers-Danlos Syndrome due to a 6p Deletion
(Karger, 2014-01-01)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 ...
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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)Serum 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 ...
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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)OBJECTIVES: (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) ...
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Final height in congenital adrenal hyperplasia: the dilemma of hypercortisolism versus hyperandrogenism
(Sociedade Brasileira de Endocrinologia e Metabologia, 2013-03-01)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 ...
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Gender Dysphoria in a 62-Year-Old Genetic Female With Congenital Adrenal Hyperplasia
(Springer/Plenum Publishers, 2016)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
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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)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 ...
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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)OBJECTIVE: 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 ...
