Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil
Autor: | Antonia Paula Marques-de-Faria, Daiane R.B. Belgini, Fernanda Canova Denardi, Heraldo Mendes Garmes, Maricilda Palandi de Mello, C.L.B. Pinto, Maria Tereza Matias Baptista, Daniel Minutti de Oliveira, Oswaldo da Rocha Grassiotto, Andréa Trevas Maciel-Guerra, Gil Guerra-Júnior |
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Rok vydání: | 2010 |
Předmět: |
medicine.medical_specialty
Adolescent Endocrinology Diabetes and Metabolism Cousin medicine.disease_cause Plasma renin activity Young Adult Internal medicine 17α hydroxylase 17 20 lyase Medicine Humans Allele Alleles Mutation Adrenal Hyperplasia Congenital business.industry Steroid 17-alpha-Hydroxylase General Medicine Pedigree Endocrinology CYP17A1 Amenorrhea Molecular Profile Female medicine.symptom business Brazil |
Zdroj: | Arquivos brasileiros de endocrinologia e metabologia. 54(8) |
ISSN: | 1677-9487 |
Popis: | In 2004, Costa-Santos and cols. reported 24 patients from 19 Brazilian families with 17α-hydroxylase deficiency and showed that p.W406R and p.R362C corresponded to 50% and 32% of CYP17A1 mutant alleles, respectively. The present report describes clinical and molecular data of six patients from three inbred Brazilian families with 17α-hydroxlyse deficiency. All patients had hypogonadism, amenorrhea and hypertension at diagnosis. Two sisters were found to be 46,XY with both gonads palpable in the inguinal region. All patients presented hypergonadotrophic hypogonadism, with high levels of ACTH (> 104 ng/mL), suppressed plasmatic renin activity, low levels of potassium (< 2.8 mEq/L) and elevated progesterone levels (> 4.4 ng/mL). Three of them, including two sisters, were homozygous for p.W406R mutation and the other three (two sisters and one cousin) were homozygous for p.R362C. The finding of p.W406R and p.R362C in the CYP17A1 gene here reported in additional families, confirms them as the most frequent mutations causing complete combined 17α-hydroxylase/17,20-lyase deficiency in Brazilian patients. |
Databáze: | OpenAIRE |
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