title: [Profile of patients with genitourinary anomalies treated in a clinical genetics service in the Brazilian unified health system].
abstract: OBJECTIVE
  To describe the profile of patients with genitourinary abnormalities treated at a tertiary hospital genetics service.
  
  
  METHODS
  Cross-sectional study of 1,068 medical records of patients treated between April/2008 and August/2014. A total of 115 cases suggestive of genitourinary anomalies were selected, regardless of age. A standardized clinical protocol was used, as well as karyotype, hormone levels and genitourinary ultrasound for basic evaluation. Laparoscopy, gonadal biopsy and molecular studies were performed in specific cases. Patients with genitourinary malformations were classified as genitourinary anomalies (GUA), whereas the others, as sex differentiation disorders (SDD). Chi-square, Fisher and Kruskal-Wallis tests were used for statistical analysis and comparison between groups.
  
  
  RESULTS
  80 subjects met the inclusion criteria, 91% with SDD and 9% with isolated/ syndromic GUA. The age was younger in the GUA group (p<0.02), but these groups did not differ regarding external and internal genitalia, as well as karyotype. Karyotype 46,XY was verified in 55% and chromosomal aberrations in 17.5% of cases. Ambiguous genitalia occurred in 45%, predominantly in 46,XX patients (p<0.006). Gonadal differentiation disorders accounted for 25% and congenital adrenal hyperplasia, for 17.5% of the sample. Consanguinity occurred in 16%, recurrence in 12%, lack of birth certificate in 20% and interrupted follow-up in 31% of cases.
  
  
  CONCLUSIONS
  Patients with SDD predominated. Ambiguous genitalia and abnormal sexual differentiation were more frequent among infants and prepubertal individuals. Congenital adrenal hyperplasia was the most prevalent nosology. Younger patients were more common in the GUA group. Abandonment and lower frequency of birth certificate occurred in patients with ambiguous or malformed genitalia. These characteristics corroborate the literature and show the biopsychosocial impact of genitourinary anomalies.
authors.affiliation: Universidade Federal de Alagoas (Ufal), Maceió, AL, Brasil.
authors.forename: Ilanna Fragoso Peixoto
authors.initials: IF
authors.lastname: Gazzaneo
authors.affiliation: Universidade Federal de Alagoas (Ufal), Maceió, AL, Brasil.
authors.forename: Camila Maia Costa
authors.initials: CM
authors.lastname: de Queiroz
authors.affiliation: Universidade Federal de Alagoas (Ufal), Maceió, AL, Brasil.
authors.forename: Larissa Clara Vieira
authors.initials: LC
authors.lastname: Goes
authors.affiliation: Universidade Federal de Alagoas (Ufal), Maceió, AL, Brasil.
authors.forename: Victor José Correia
authors.initials: VJ
authors.lastname: Lessa
authors.affiliation: Universidade Estadual de Ciências da Saúde de Alagoas (Uncisal), Maceió, AL, Brasil.
authors.forename: Reinaldo Luna
authors.initials: RL
authors.lastname: de Omena Filho
authors.affiliation: Universidade Estadual de Ciências da Saúde de Alagoas (Uncisal), Maceió, AL, Brasil.
authors.forename: Diogo Lucas Lima
authors.initials: DL
authors.lastname: do Nascimento
authors.affiliation: Universidade Federal de Alagoas (Ufal), Maceió, AL, Brasil.
authors.forename: Reginaldo José
authors.initials: RJ
authors.lastname: Petroli
authors.affiliation: Universidade Federal de Alagoas (Ufal), Maceió, AL, Brasil.
authors.forename: Susane Vasconcelos
authors.initials: SV
authors.lastname: Zanotti
authors.affiliation: Universidade Federal de Alagoas (Ufal), Maceió, AL, Brasil. Electronic address: isabella.monlleo@gmail.com.
authors.forename: Isabella Lopes
authors.initials: IL
authors.lastname: Monlleó
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000453:epidemiology / Q000235:genetics / Q000473:pathology; D000328:Adult; D001938:Brazil / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D012734:Disorders of Sex Development / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology; D005260:Female; D006728:Hormones / Q000097:blood; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D059785:Karyotype; D008297:Male; D014564:Urogenital Abnormalities / Q000097:blood; D055815:Young Adult
chemical_list: D006728:Hormones
keywords: Diferenciação sexual/genética; Etiologia; Etiology; Genitalia; Genitália; Sexual differentiation/genetics