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(Referência obtida automaticamente do Web of Science, por meio da informação sobre o financiamento pela FAPESP e o número do processo correspondente, incluída na publicação pelos autores.)

Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects

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Autor(es):
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de Carvalho, Luciane Carneiro [1] ; Brito, Vinicius Nahime [1] ; Martin, Regina Matsunaga [1] ; Zamboni, Aline Machado [1] ; Gomes, Larissa Garcia [1] ; Inacio, Marlene [1] ; Mermejo, Livia Mara [2] ; Coeli-Lacchini, Fernanda [2] ; Teixeira, Virginia Ribeiro [3] ; Goncalves, Fabricia Torres [4] ; Faria Carrilho, Alexandre Jose [5] ; Del Toro Camargo, Kenny Yelena [6] ; Finkielstain, Gabriela Paula [7] ; Taboada, Giselle Fernandes [8] ; Frade Costa, Elaine Maria [1] ; Domenice, Sorahia [1] ; Mendonca, Berenice Bilharinho [1]
Número total de Autores: 17
Afiliação do(s) autor(es):
[1] Univ Sao Paulo, Unidade Endocrinol Desenvolvimento, Lab Hormonios & Genet Mol LIM 42, Disciplina Endocrinol, Hosp Clin, Fac Med, Sao Paulo - Brazil
[2] Univ Sao Paulo, Div Endocrinol, Dept Clin Med, Fac Med Ribeirao Preto, Sao Paulo - Brazil
[3] Univ Fed Ceara, Div Endocrinol, Fortaleza, Ceara - Brazil
[4] Univ Fed Uberlandia, Hosp Clin, Div Endocrinol, Av Engenheiro Dinz 1178, CP 593, BR-38400 Uberlandia, MG - Brazil
[5] Univ Estadual Londrina, Div Endocrinol, Londrina, Parana - Brazil
[6] Unidad Med Villa Country, Barranquilla - Colombia
[7] Hosp Ninos Dr Ricardo Gutierrez, Ctr Invest Endocrinol, Div Endocrinol, Buenos Aires, DF - Argentina
[8] Univ Fed Fluminense, Div Endocrinol, Niteroi, RJ - Brazil
Número total de Afiliações: 8
Tipo de documento: Artigo Científico
Fonte: Fertility and Sterility; v. 105, n. 6, p. 1612-1619, JUN 2016.
Citações Web of Science: 7
Resumo

Objective: To perform a clinical, biochemical, and molecular evaluation of patients with CYP17A1 defects, including ovarian imaging. Design: Retrospective study. Setting: Tertiary care center. Patient(s): Sixteen patients with congenital adrenal hyperplasia due to CYP17A1 defects with a median chronological age of 20 years and belonging to 10 unrelated families. Intervention(s): None. Main Outcome Measure(s): Clinical and biochemical parameters, molecular diagnosis, ovarian imaging, and therapeutic management. Result(s): Seventy-one percent of patients presented with primary amenorrhea, 500/0 had no breast development, and pubic hair was absent or sparse in all patients; 880/o had high blood pressure at diagnosis. Basal LH and P levels were high, and androgen levels were low in all patients. Ultrasound revealed ovarian enlargement in 68.70/0 and ovarian macrocysts in 62.50/0 of patients before treatment; three patients had a previous surgical correction of ovarian torsion or rupture. Molecular analysis revealed inactivating CYP17A1 mutations in all patients. The most prevalent mutation was p.W406R, and one patient bore a novel p.G478S/ p.1223Nfs{*}10 compound heterozygous mutation. Treatment with dexamethasone, estrogen, and P resulted in reduction of ovarian volume. Conclusion (s): Amenorrhea, absent/sparse pubic hair, hypertension, and ovarian macrocysts, whichincrease the risk of ovarian torsion, are important elements in the diagnosis of 46,XX patients with CYP17A1 defects. High basal P levels in patients with hypergonadotropic hypogoriadisiri point to the diagnosis of CYP17A1 defects. Fertility can be achieved in these patients with novel reproductive techniques. (Fertil Steil(R) 2016;105:1612-9. (C) 2016 by American Society for Reproductive Medicine.) (AU)

Processo FAPESP: 13/02162-8 - Patogênese molecular e caracterização de doenças monogênicas do desenvolvimento: um caminho para a medicina translacional
Beneficiário:Berenice Bilharinho de Mendonça
Modalidade de apoio: Auxílio à Pesquisa - Temático