Plea for a standardized imaging approach to disorders of sex development in neonates: consensus proposal from European Society of Paediatric Radiology task force

  • Fred E. AvniEmail author
  • Heloise Lerisson
  • Maria-Luisa Lobo
  • Maryse Cartigny
  • Marcello Napolitano
  • Hans-J. Mentzel
  • Michael Riccabona
  • Magdalena Wozniak
  • Damjana Kljucevsek
  • Thomas A. Augdal
  • Bruno Constanza
  • Donald Ibe
  • Kassa Darge
  • Samuel Stafrace
  • Philippe Petit
  • Lil-Sofie Ording Muller


This consensus article elaborated by the European Society for Paediatric Radiology task force on gastrointestinal and genitourinary imaging is intended to standardize the imaging approach in newborns with disorders of sex development. These newborns represent a difficult and stressful situation necessitating a multidisciplinary team approach. Imaging plays an important role in the work-up but needs to be optimized and customized to the patient. Ultrasound plays the central role in assessing the genital anatomy. The examination must be conducted in a detailed and systematic way. It must include transabdominal and transperineal approaches with adapted high-resolution transducers. The pelvic cavity, the genital folds, the inguinal areas and the adrenals must be evaluated as well as the rest of the abdominal cavity. A reporting template is proposed. The indications of magnetic resonance imaging and cysto- and genitography are discussed as well as they may provide additional information. Imaging findings must be reported cautiously using neutral wording as much as possible.


Adrenals Congenital anomalies Disorders of sex development Genital tract Magnetic resonance imaging Neonates Sexual differentiation Ultrasound 


Compliance with ethical standards

Conflicts of interest



  1. 1.
    Wherret DK (2015) Approach to the infant with suspected disorder of sex development. Pediatr Clin N Am 62:983–999CrossRefGoogle Scholar
  2. 2.
    Hiort O, Birnbaum W, Marshall L et al (2014) Management of disorders of sex development. Nat Rev Endocrinol 10:520–529CrossRefGoogle Scholar
  3. 3.
    Cools M, Nordenstrom A, Robeva R et al (2018) Caring for individuals with DSD: a consensus statement. Nat Rev Endocrinol 14:415–429CrossRefGoogle Scholar
  4. 4.
    Mendonca BB, Domenico S, Arnhold IJ, Costa EM (2009) 46,XY disorders of sexual development (DSD). Clin Endocrinol 70:173–187Google Scholar
  5. 5.
    Kousta E, Papathanasiou A, Skordis N (2010) Sex determination and disorders of sex development according to the revised nomenclature and classification in 46XX individuals. Hormones (Athens) 9:218–231CrossRefGoogle Scholar
  6. 6.
    Lee PA, Houk CP, Ahmed SF, International Consensus Conference on Intersex organized by the Lawson Wilkins pediatric Endocrine Society and the European Society for Paediatric Endocrinology (2006) Consensus management of intersex disorders. Pediatrics 118:e488–e500CrossRefGoogle Scholar
  7. 7.
    Odeh M, Granin V, Kais M et al (2009) Sonographic fetal sex determination. Obstet Gynecol Surv 64:50–57CrossRefGoogle Scholar
  8. 8.
    Rotondi M, Valenzano F, Bilancioni E et al (2001) Prenatal measurement of testicular diameter by ultrasonography: development of fetal male gender and evaluation of testicular descent. Prenat Diagn 21:112–115CrossRefGoogle Scholar
  9. 9.
    Chitty LS, Chatelain P, Wolffenbuttel KP, Aigrain Y (2012) Prenatal diagnosis of disorders of sexual development. J Pediatr Urol 8:576–584CrossRefGoogle Scholar
  10. 10.
    Lynch TA, Ruzzo K, Sack V, Rijhsinghani A (2016) Fetal sex determination using NIPT and ultrasound as a method for diagnosing important fetal sex abnormalities. Prenat Diagn 36:888–890CrossRefGoogle Scholar
  11. 11.
    Paltiel HJ, Phelps A (2014) US of the pediatric female pelvis. Radiology 270:644–657CrossRefGoogle Scholar
  12. 12.
    Kaplan SL, Edgar JC, Ford EG et al (2016) Size of ovaries, uterus and breast buds by ultrasound in full-term neonates aged 0-3 days. Pediatr Radiol 46:1837–1847CrossRefGoogle Scholar
  13. 13.
    Son JK, Taylor GA (2014) Transperineal ultrasonography. Pediatr Radiol 44:193–201CrossRefGoogle Scholar
  14. 14.
    Otero HJ, Rubio E, Blask A (2015) Ovary and testicle and everything in between: lesions and imaging in the newborn. Semin Ultrasound CT MR 36:178–192CrossRefGoogle Scholar
  15. 15.
    Sargar KM, Khanna G, Hulett Bowling R (2017) Imaging of nonmalignant adrenal lesions in children. Radiographics 37:1648–1664CrossRefGoogle Scholar
  16. 16.
    Moshiri M, Chapman T, Fechner PY et al (2012) Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics 32:1599–1618CrossRefGoogle Scholar
  17. 17.
    Chavhan GB, Parra DA, Oudjhane K et al (2008) Imaging of ambiguous genitalia: classification and diagnostic approach. Radiographics 28:1891–1904CrossRefGoogle Scholar
  18. 18.
    Guerra-Junior G, Andrade KC, Barcelos IHK, Maciel-Guerra AT (2018) Imaging techniques in the diagnostic journey of disorders of sex development. Sex Dev 12:95–99CrossRefGoogle Scholar
  19. 19.
    Cassart M, Massez A, Donner C et al (2005) Sonographic diagnosis of fetal adrenal hyperplasia: utility for prenatal corticotherapy. Prenat Diagn 25:1060–1061CrossRefGoogle Scholar
  20. 20.
    Kim CJ (2014) Congenital lipoid adrenal hyperplasia. Ann Pediatr Endocrinol Metab 19:179–183CrossRefGoogle Scholar
  21. 21.
    Karsli T, Sutter J, Shekhawat PS (2016) X-linked adrenal hypoplasia congenita due to NROB1 (DAX1) deficiency presenting as severe respiratory distress in near term infants. Pediatr Neonatol 57:444–445CrossRefGoogle Scholar
  22. 22.
    Riccabona M, Darge K, Lobo ML et al (2015) ESPR Uroradiology Taskforce – imaging recommendations in paediatric uroradiology, part VIII: retrograde urethrography, imaging disorder of sexual development and imaging childhood testicular torsion. Pediatr Radiol 45:2023–2028CrossRefGoogle Scholar
  23. 23.
    Kopac M, Riccabona M, Haim M (2009) Contrast-enhanced voiding urosonography and genitography in a baby with ambiguous genitalia and urogenital sinus. Ultraschall Med 30:299–300CrossRefGoogle Scholar
  24. 24.
    Mansour SM, Hamed ST, Adel L et al (2012) Does MRI add to ultrasound in the assessment of disorders of sex development? Eur J Radiol 81:2403–2410CrossRefGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019
corrected publication 2019

Authors and Affiliations

  • Fred E. Avni
    • 1
    Email author
  • Heloise Lerisson
    • 1
  • Maria-Luisa Lobo
    • 2
  • Maryse Cartigny
    • 3
  • Marcello Napolitano
    • 4
  • Hans-J. Mentzel
    • 5
  • Michael Riccabona
    • 6
  • Magdalena Wozniak
    • 7
  • Damjana Kljucevsek
    • 8
  • Thomas A. Augdal
    • 9
  • Bruno Constanza
    • 10
  • Donald Ibe
    • 11
  • Kassa Darge
    • 12
  • Samuel Stafrace
    • 13
  • Philippe Petit
    • 14
  • Lil-Sofie Ording Muller
    • 15
  1. 1.Department of Pediatric Imaging Jeanne de Flandre HospitalLille University HospitalsLille- CedexFrance
  2. 2.Department of RadiologyHospital de Santa Maria-CHULNLisbonPortugal
  3. 3.Department of Pediatric Endocrinology Jeanne de Flandre HospitalLille University HospitalsLilleFrance
  4. 4.Department of Pediatric and Neuro-radiology V. Buzzi Children’s HospitalMilanItaly
  5. 5.Department of Pediatric Radiology, Institute of Diagnostic and Inteventional Radiology, University Hospital JenaJenaGermany
  6. 6.Department of Radiology, Division of Pediatric RadiologyUniversity Hospital LKH GrazGrazAustria
  7. 7.Department of Pediatric RadiologyMedical University of LublinLublinPoland
  8. 8.Department of RadiologyUniversity Children’s Hospital LjubljanaLjubljanaSlovenia
  9. 9.Department of RadiologyUniversity Hospital of Northern NorwayTromsøNorway
  10. 10.Department of Radiology AOUIVeronaItaly
  11. 11.Department of RadiologyAhmadu Bello University Teaching HospitalZariaNigeria
  12. 12.Department of Radiologythe Children’s Hospital of PhiladelphiaPhiladelphiaUSA
  13. 13.Department of Medical ImagingSidra MedicineDohaQatar
  14. 14.Department of Prenatal and Pediatric ImagingTimone Children’s HospitalMarseilleFrance
  15. 15.Division of Radiology and Nuclear Medicine, Department of Pediatric RadiologyOslo University Hospital, RikshospitaletOsloNorway

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