title: Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia.
abstract: OBJECTIVE
  To describe the natural history of phenotype, growth and gonadal function in patients with partial androgen insensitivity syndrome.
  
  
  METHODS
  Tertiary paediatric endocrine centre.
  
  
  METHODS
  Retrospective evaluation of 14 male patients with partial androgen insensitivity syndrome (PAIS) with verified androgen receptor (AR) mutations. The authors recorded phenotypic characteristics at birth and external masculinisation score (EMS), registered longitudinal growth, circulating levels of testosterone, estradiol, luteinising hormone (LH), follicle-stimulating hormone (FSH), inhibin-B and sex hormone binding globulin (SHBG), in addition to phenotype at postpubertal follow up.
  
  
  RESULTS
  The EMS ranged from 5 to 12 in PAIS at birth. Six patients were born with hypospadias and all patients developed gynaecomastia in puberty. Eight of the patients received testosterone treatment. At follow-up penile size was impaired irrespective of EMS at birth, but responded to pubertal androgen therapy in some of the patients. Serum levels of testosterone, estradiol, SHBG and LH, but not FSH and inhibin B, were markedly elevated in puberty. Final height was 181.3 cm (165.7-190.5 cm) corresponding to an SD score of 0.7 (-2.1 to +2.1 SD, n=10).
  
  
  CONCLUSIONS
  Gynaecomastia and impaired phallic growth are frequently observed in adults with PAIS, but may be ameliorated by androgen therapy. The authors suggest that male patients presenting with gynaecomastia in puberty, and elevated circulating levels of testosterone, estradiol and LH in puberty, but normal FSH, should be suspected of having PAIS and undergo genetic testing for AR mutations.
authors.affiliation: Department of Growth and Reproduction, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Philip
authors.initials: P
authors.lastname: Hellmann
authors.forename: Peter
authors.initials: P
authors.lastname: Christiansen
authors.forename: Trine Holm
authors.initials: TH
authors.lastname: Johannsen
authors.forename: Katharina M
authors.initials: KM
authors.lastname: Main
authors.forename: Morten
authors.initials: M
authors.lastname: Duno
authors.forename: Anders
authors.initials: A
authors.lastname: Juul
mesh_terms: D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000097:blood / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D001827:Body Height / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D004958:Estradiol / Q000097:blood; D005640:Follicle Stimulating Hormone / Q000097:blood; D005500:Follow-Up Studies; D012739:Gonadal Steroid Hormones / Q000097:blood*; D006130:Growth Disorders / Q000097:blood / Q000209:etiology*; D006177:Gynecomastia / Q000097:blood / Q000209:etiology*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009154:Mutation; D010641:Phenotype; D011944:Receptors, Androgen / Q000235:genetics; D012189:Retrospective Studies; D012738:Sex Hormone-Binding Globulin / Q000378:metabolism; D013739:Testosterone / Q000097:blood; D055815:Young Adult
chemical_list: D012739:Gonadal Steroid Hormones; D011944:Receptors, Androgen; D012738:Sex Hormone-Binding Globulin; D013739:Testosterone; D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone