, Volume 16, Issue 3, pp 313–317 | Cite as

Identification of an AR mutation in Klinefelter syndrome during evaluation for penoscrotal hypospadias

  • Sezer Acar
  • Hale Tuhan
  • Elçin Bora
  • Korcan Demir
  • Hüseyin Onay
  • Derya Erçal
  • Ece Böber
  • Ayhan AbacıEmail author
Case report


Genital anomalies, ranging from female genitalia to milder degrees of undervirilization, are rarely reported in Klinefelter syndrome, in which a male is classically expected to be born with male external genitalia. Though androgen insensitivity syndrome (AIS) is one of the possible pathogenic mechanisms also in Klinefelter syndrome with genital anomalies, to date the AR gene has not been analyzed in any of the published cases of Klinefelter syndrome of the milder phenotype, except for those patients presenting with a severe phenotype, such as female external genitalia. Lack of interest in considering androgen insensitivity in Klinefelter syndrome with a milder phenotype of genital anomalies may impede its identification through an accurate diagnosis. We present a 14-month-old boy with penoscrotal hypospadias, micropenis, and a ventral penile chordee abnormality who was observed to have both a 47,XXY karyotype and a known missense mutation in the AR gene that was inherited from his mother. Although it is recommended that Klinefelter syndrome be considered in the differential diagnosis of penoscrotal abnormalities, mutations in specific genes involved in androgen synthesis or responsiveness should also be investigated.

Key words

Androgen insensitivity syndrome Androgen receptor Hypospadias Klinefelter syndrome 


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Copyright information

© Hellenic Endocrine Society 2017

Authors and Affiliations

  • Sezer Acar
    • 1
    • 4
  • Hale Tuhan
    • 1
    • 4
  • Elçin Bora
    • 2
    • 4
  • Korcan Demir
    • 1
    • 4
  • Hüseyin Onay
    • 3
    • 4
  • Derya Erçal
    • 4
  • Ece Böber
    • 1
    • 4
  • Ayhan Abacı
    • 1
    • 4
    Email author
  1. 1.Department of Pediatric EndocrinologyDokuz Eylul University, Faculty of MedicineNarlıdere, İzmirTurkey
  2. 2.Department of Medical GeneticsDokuz Eylul University Faculty of MedicineIzmirTurkey
  3. 3.Department of Medical GeneticsEge University Faculty of MedicineIzmirTurkey
  4. 4.Department of Pediatric GeneticsDokuz Eylul University Faculty of MedicineIzmirTurkey

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