Marivânia Costa‐Santos

Delayed Bone Maturation and Extended Growth Phase as Distinctive Features of 17α‐Hydroxylase/17,20‐Lyase Deficiency: A Retro‐Prospective Study of a Large Patient Cohort

Rafaela S. Fontenele, Flavia Amanda Costa‐Barbosa, Marivânia Costa‐Santos, Rafael Loch Batista et autres

INTRODUCTION: Worldwide, combined 17-hydroxylase/17,20-lyase deficiency (CYP17D) is a rare form of congenital adrenal hyperplasia, but it is the second most prevalent type in Brazil. An absence of sexual differentiation and hypergonadotropic hypogonadism arise from a reduction in the usual pattern of sex …

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17α-Hydroxylase Deficiency is an Underdiagnosed Disease: High Frequency of Misdiagnoses in a Large Cohort of Brazilian Patients

Rafaela S. Fontenele, Marivânia Costa‐Santos, Cláudio E. Kater

Two Intronic Mutations Cause 17-Hydroxylase Deficiency by Disrupting Splice Acceptor Sites: Direct Demonstration of Aberrant Splicing and Absent Enzyme Activity by Expression of the EntireCYP17Gene in HEK-293 Cells

Marivânia Costa‐Santos, Cláudio E. Kater, Eduardo P. Dias, Richard J. Auchus

To date, only two among 46 mutations in the CYP17 gene cause 17-hydroxylase deficiency (17OHD) by disrupting mRNA splice donor sites. We studied two subjects with intronic CYP17 mutations: a compound heterozygote for Y329D plus an AG to CG substitution at the …

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Two Prevalent CYP17 Mutations and Genotype-Phenotype Correlations in 24 Brazilian Patients with 17-Hydroxylase Deficiency

Marivânia Costa‐Santos, Cláudio E. Kater, Richard J. Auchus

We performed molecular genetic analysis of 24 subjects from 19 families with 17-hydroxylase deficiency in Brazil. Of 7 novel CYP17 mutations, 2 (W406R and R362C) account for 50% and 32% of the mutant alleles, respectively. Both mutations were completely inactive when studied …

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Bases Moleculares da Hiperplasia Adrenal Congênita

Maricilda Pallandi de Mello, Tânia A.S.S. Bachega, Marivânia Costa‐Santos, Lívia M. Mermejo et autres

Hiperplasia adrenal congênita (HAC) é uma doença autossômica recessiva decorrente da alteração de enzimas que participam da síntese do cortisol. As manifestações podem ser causadas pela deficiência do cortisol e, em alguns casos, aldosterona e pelo acúmulo de precursores. O objetivo desta …

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O espectro das síndromes de hipertensão esteróide na infância e adolescência

Cláudio E. Kater, Marivânia Costa‐Santos

Hipertensão arterial não é privilégio de adultos. Além de causas renais e vasculares, doenças adrenocorticais ou correlatas devem ser consideradas na investigação da criança e adolescente hipertensos. O receptor mineralocortidóide (MC) pode ser ativado tanto por MC típicos como pelo cortisol, e …

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artigo original O Espectro das Síndromes de Hipertensão Esteróide na Infância e Adolescência

Cláudio E. Kater, Marivânia Costa‐Santos

ABSTRACT Arterial hypertension is not a privilege of adults. Besides renal and vascu-lar causes, adrenocortical and correlated diseases must be consideredwhen investigating a hypertensive child or adolescent. The mineralocor-ticoid (MC) receptor can be activated by typical MC as well as by cor-tisol, …