title: Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects.
abstract: To perform a clinical, biochemical, and molecular evaluation of patients with CYP17A1 defects, including ovarian imaging.
  
  
  
  Retrospective study.
  
  
  
  Tertiary care center.
  
  
  
  Sixteen patients with congenital adrenal hyperplasia due to CYP17A1 defects with a median chronological age of 20 years and belonging to 10 unrelated families.
  
  
  
  None.
  
  
  
  Clinical and biochemical parameters, molecular diagnosis, ovarian imaging, and therapeutic management.
  
  
  
  Seventy-one percent of patients presented with primary amenorrhea, 50% had no breast development, and pubic hair was absent or sparse in all patients; 88% 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 68.7% and ovarian macrocysts in 62.5% 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.I223Nfs*10 compound heterozygous mutation. Treatment with dexamethasone, estrogen, and P resulted in reduction of ovarian volume.
  
  
  
  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 hypogonadism point to the diagnosis of CYP17A1 defects. Fertility can be achieved in these patients with novel reproductive techniques.
authors.affiliation: Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM 42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Luciane Carneiro de
authors.initials: LC
authors.lastname: Carvalho
authors.affiliation: Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM 42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Vinicius Nahime
authors.initials: VN
authors.lastname: Brito
authors.affiliation: Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM 42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Regina Matsunaga
authors.initials: RM
authors.lastname: Martin
authors.affiliation: Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM 42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Aline Machado
authors.initials: AM
authors.lastname: Zamboni
authors.affiliation: Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM 42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Larissa Garcia
authors.initials: LG
authors.lastname: Gomes
authors.affiliation: Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM 42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Marlene
authors.initials: M
authors.lastname: Inácio
authors.affiliation: Divisão de Endocrinologia, Departamento de Clínica Médica, Faculdade de Medicina de Ribeirão Preto-USP, São Paulo, Brasil.
authors.forename: Livia Mara
authors.initials: LM
authors.lastname: Mermejo
authors.affiliation: Divisão de Endocrinologia, Departamento de Clínica Médica, Faculdade de Medicina de Ribeirão Preto-USP, São Paulo, Brasil.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Coeli-Lacchini
authors.affiliation: Divisão de Endocrinologia, Universidade Federal do Ceará, Fortaleza, Ceará, Brasil.
authors.forename: Virginia Ribeiro
authors.initials: VR
authors.lastname: Teixeira
authors.affiliation: Divisão de Endocrinologia do Hospital das Clínicas da Universidade Federal de Uberlândia, Uberlândia, Minas Gerais, Brasil.
authors.forename: Fabrícia Torres
authors.initials: FT
authors.lastname: Gonçalves
authors.affiliation: Divisão de Endocrinologia, Universidade Estadual de Londrina, Londrina, Paraná, Brasil.
authors.forename: Alexandre José Faria
authors.initials: AJ
authors.lastname: Carrilho
authors.affiliation: Unidad Médica Villa Country, Barranquilla, Colombia.
authors.forename: Kenny Yelena
authors.initials: KY
authors.lastname: Del Toro Camargo
authors.affiliation: División de Endocrinología, Centro de Investigaciones Endocrinológicas, Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina.
authors.forename: Gabriela Paula
authors.initials: GP
authors.lastname: Finkielstain
authors.affiliation: Divisão de Endocrinologia, Universidade Federal Fluminense, Niterói, RJ, Brasil.
authors.forename: Giselle Fernandes
authors.initials: GF
authors.lastname: Taboada
authors.affiliation: Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM 42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Elaine Maria
authors.initials: EM
authors.lastname: Frade Costa
authors.affiliation: Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM 42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil.
authors.forename: Sorahia
authors.initials: S
authors.lastname: Domenice
authors.affiliation: Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM 42, Disciplina de Endocrinologia, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brasil. Electronic address: beremen@usp.br.
authors.forename: Berenice Bilharinho
authors.initials: BB
authors.lastname: Mendonca
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D000305:Adrenal Cortex Hormones / Q000097:blood; D000312:Adrenal Hyperplasia, Congenital / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D010049:Ovarian Diseases / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D012189:Retrospective Studies; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*; D055815:Young Adult
chemical_list: D000305:Adrenal Cortex Hormones; C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase
keywords: CYP17A1; P450c17 activity deficiency; congenital adrenal hyperplasia; hypergonadotropic hypogonadism; ovarian cysts