title: The Long-Term Outcome of Boys With Partial Androgen Insensitivity Syndrome and a Mutation in the Androgen Receptor Gene.
abstract: BACKGROUND
  In boys with suspected partial androgen insensitivity syndrome (PAIS), systematic evidence that supports the long-term prognostic value of identifying a mutation in the androgen receptor gene (AR) is lacking.
  
  
  OBJECTIVE
  To assess the clinical characteristics and long-term outcomes in young men with suspected PAIS in relation to the results of AR analysis.
  
  
  METHODS
  Through the International Disorders of Sex Development Registry, clinical information was gathered on young men suspected of having PAIS (n = 52) who presented before the age of 16 years and had genetic analysis of AR.
  
  
  RESULTS
  The median ages at presentation and at the time of the study were 1 month (range, 1 day to 16 years) and 22 years (range, 16 to 52 years), respectively. Of the cohort, 29 men (56%) had 20 different AR mutations reported. At diagnosis, the median external masculinization scores were 7 and 6 in cases with and without AR mutation, respectively (P = .9), and median current external masculinization scores were 9 and 10, respectively (P = .28). Thirty-five men (67%) required at least one surgical procedure, and those with a mutation were more likely to require multiple surgeries for hypospadias (P = .004). All cases with an AR mutation had gynecomastia, compared to 9% of those without an AR mutation. Of the six men who had a mastectomy, five (83%) had an AR mutation.
  
  
  CONCLUSIONS
  Boys with genetically confirmed PAIS are likely to have a poorer clinical outcome than those with XY DSD, with normal T synthesis, and without an identifiable AR mutation. Routine genetic analysis of AR to confirm PAIS informs long-term prognosis and management.
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: A
authors.initials: A
authors.lastname: Lucas-Herald
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: S
authors.initials: S
authors.lastname: Bertelloni
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: A
authors.initials: A
authors.lastname: Juul
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: J
authors.initials: J
authors.lastname: Bryce
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: J
authors.initials: J
authors.lastname: Jiang
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: M
authors.initials: M
authors.lastname: Rodie
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: R
authors.initials: R
authors.lastname: Sinnott
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
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authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
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authors.lastname: Lindhardt Johansen
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: O
authors.initials: O
authors.lastname: Hiort
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: P M
authors.initials: PM
authors.lastname: Holterhus
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: M
authors.initials: M
authors.lastname: Cools
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
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authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
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authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: N
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authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: S
authors.initials: S
authors.lastname: Hannema
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: S
authors.initials: S
authors.lastname: Drop
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: T
authors.initials: T
authors.lastname: Guran
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: F
authors.initials: F
authors.lastname: Darendeliler
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: A
authors.initials: A
authors.lastname: Nordenstrom
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: I A
authors.initials: IA
authors.lastname: Hughes
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: C
authors.initials: C
authors.lastname: Acerini
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: R
authors.initials: R
authors.lastname: Tadokoro-Cuccaro
authors.affiliation: University of Glasgow (A.L.-H., J.B., J.J., M.R., R.S., M.B., S.F.A.), Glasgow G51 4TF, United Kingdom; University Hospital Pisa (S.B.), 56125 Pisa, Italy; Copenhagen University Hospital (A.J., M.L.J.), 2100 Copenhagen, Denmark; University of Luebeck (O.H.), 23562 Luebeck, Germany; Christian-Albrechts-University of Kiel and University Hospital of Schleswig-Holstein (P.M.H.), 24105 Kiel, Germany; University Hospital Ghent and Ghent University (M.C.), B-9000 Ghent, Belgium; State University of Campinas (UNICAMP) (G.G.-F., G.G.-J.), Campinas 13083-970, Brazil; Dana Dwek Children's Hospital (N.W.), Tel Aviv University, Tel Aviv 64239, Israel; Leids Universitair Medisch Centrum (S.H.), 2333 ZA Leiden, The Netherlands; Sophia Children's Hospital (S.H.), Erasmus University Medical Center, 3015 CN Rotterdam, The Netherlands; Marmara University (T.G.), 34722 Istanbul, Turkey; Istanbul University (F.D.), 34452 Istanbul, Turkey; Karolinska Institutet (A.N.), SE-171 77 Stockholm, Sweden; and University of Cambridge (I.A.H., C.A., R.T.-C.), Cambridge CB2 1TN, United Kingdom.
authors.forename: S F
authors.initials: SF
authors.lastname: Ahmed
mesh_terms: D000293:Adolescent; D000328:Adult; D000375:Aging; D013734:Androgen-Insensitivity Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D018450:Disease Progression; D058490:Disorder of Sex Development, 46,XY / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D006177:Gynecomastia / Q000209:etiology / Q000601:surgery; D006801:Humans; D007021:Hypospadias / Q000209:etiology / Q000601:surgery; D007223:Infant; D007231:Infant, Newborn; D007390:International Agencies; D008297:Male; D008408:Mastectomy; D008875:Middle Aged; D009154:Mutation; D011379:Prognosis; D011628:Puberty, Delayed; D011944:Receptors, Androgen / Q000235:genetics* / Q000378:metabolism; D012042:Registries; D012189:Retrospective Studies; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: C410798:AR protein, human; D011944:Receptors, Androgen