title: Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome.
abstract: OBJECTIVE
  Diagnosis and management of the complete androgen insensitivity syndrome have dramatically changed in the last few decades, with earlier diagnosis and the development of molecular biology. Some phenotypic features such as development of wolffian and mullerian remnants have been suggested to be an index of subtle residual androgen activity. Variations of these features clearly exist among patients and may influence treatment. Our aim was to assess the safety of keeping gonads in place for spontaneous puberty in a cohort of patients with genetically proved complete androgen insensitivity syndrome. In parallel to the risks of virilization at puberty and gonadal tumor some additional features, such as need for vaginal surgery, were investigated.
  
  
  METHODS
  We studied the genotype, phenotype, anatomy of the internal and external genitalia, and clinical outcome of 29 cases of complete androgen insensitivity syndrome, managed by the same team from diagnosis (frequently in early childhood) to adulthood.
  
  
  RESULTS
  All patients had a complete female phenotype. A total of 19 different mutations (including 7 unreported) were found. Each family presented with a different mutation. No somatic mosaicism was detected. Vas deferens and epididymis were found in all types of mutations (missense, nonsense and frameshift). Of the patients 23 were postpubertal (19 spontaneously). No postpubertal virilization occurred. Only 1 carcinoma in situ was detected (postpubertally). Vaginal surgery was rarely necessary.
  
  
  CONCLUSIONS
  Our data advocate for keeping the gonads in the complete androgen insensitivity syndrome, at least until completion of spontaneous puberty. The risk of virilization at puberty should be ruled out for each androgen receptor mutation before management decisions and genetic counseling. Vaginal surgery should not be indicated as first line treatment.
authors: Department of Pediatric Surgery, APHP Hôpital Necker-Enfants Malades and Université Paris Descartes, Paris, France.
authors: Alaa
authors: A
authors: Cheikhelard
authors: Yves
authors: Y
authors: Morel
authors: Elisabeth
authors: E
authors: Thibaud
authors: Stephen
authors: S
authors: Lortat-Jacob
authors: Francis
authors: F
authors: Jaubert
authors: Michel
authors: M
authors: Polak
authors: Claire
authors: C
authors: Nihoul-Fekete
mesh_terms: D000293:Adolescent; D013734:Androgen-Insensitivity Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000628:therapy; D000728:Androgens / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005500:Follow-Up Studies; D005817:Genetic Counseling; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005838:Genotype; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D011944:Receptors, Androgen / Q000235:genetics* / Q000378:metabolism; D013997:Time Factors
chemical_list: C410798:AR protein, human; D000728:Androgens; D011944:Receptors, Androgen