CC BY-NC-ND 4.0 · Journal of Gastrointestinal and Abdominal Radiology 2020; 03(02): 181-192
DOI: 10.1055/s-0039-3402101
Review Article

Imaging Evaluation of Disorders of Sex Development

Anu Eapen
1   Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India
,
Anuradha Chandramohan
1   Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India
,
Betty Simon
1   Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India
,
Tharani Putta
1   Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India
,
Reetu John
1   Department of Radiology, Christian Medical College, Vellore, Tamil Nadu, India
,
Aruna Kekre
2   Department of Obstetrics and Gynaecology, Christian Medical College, Vellore, Tamil Nadu, India
› Author Affiliations

Abstract

Disorders of sex development (DSD) refer to congenital conditions with a typical development of chromosomal, gonadal, or anatomic sex. In the revised classification of DSD, there are three categories based on karyotype: 46,XX DSD; 46,XY DSD; and sex chromosome DSD. Imaging, as part of a multidisciplinary approach to management of DSD, has a key role in gender assignment. The main role of imaging is to help in identifying the gonads and the Müllerian structures. Ultrasound is useful, especially in the neonate with ambiguous genitalia. Magnetic resonance imaging is a useful modality to locate and characterize the gonads in young girls with primary amenorrhea and also to identify streak gonads, which have a risk of malignancy.



Publication History

Article published online:
27 January 2020

© .

Thieme Medical and Scientific Publishers Private Ltd.
A-12, Second Floor, Sector -2, NOIDA -201301, India

 
  • References

  • 1 Pasterski V, Prentice P, Hughes IA. Impact of the consensus statement and the new DSD classification system. Best Pract Res Clin Endocrinol Metab 2010; 24 (02) 187-195
  • 2 Romao RLP, Salle JL, Wherrett DK. Update on the management of disorders of sex development. Pediatr Clin North Am 2012; 59 (04) 853-869
  • 3 Ogilvy-Stuart AL, Brain CE. Early assessment of ambiguous genitalia. Arch Dis Child 2004; 89 (05) 401-407
  • 4 Moshiri M, Chapman T, Fechner PY. et al. Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics 2012; 32 (06) 1599-1618
  • 5 Chavhan GB, Parra DA, Oudjhane K, Miller SF, Babyn PS, Pippi Salle FL. Imaging of ambiguous genitalia: classification and diagnostic approach. Radiographics 2008; 28 (07) 1891-1904
  • 6 Biswas K, Kapoor A, Karak AK. et al. Imaging in intersex disorders. J Pediatr Endocrinol Metab 2004; 17 (06) 841-845
  • 7 Auchus RJ, Chang AY. 46,XX DSD: the masculinised female. Best Pract Res Clin Endocrinol Metab 2010; 24 (02) 219-242
  • 8 Kok HK, Sherlock M, Healy NA, Doody O, Govender P, Torreggiani WC. Imaging features of poorly controlled congenital adrenal hyperplasia in adults. Br J Radiol 2015; 88 (1053) 20150352
  • 9 Sivit CJ, Hung W, Taylor GA, Catena LM, Brown-Jones C, Kushner DC. Sonography in neonatal congenital adrenal hyperplasia. AJR Am J Roentgenol 1991; 156 (01) 141-143
  • 10 Wright NB, Smith C, Rickwood AM, Carty HM. Imaging children with ambiguous genitalia and intersex states. Clin Radiol 1995; 50 (12) 823-829
  • 11 Avni EF, Rypens F, Smet MH, Galetty E. Sonographic demonstration of congenital adrenal hyperplasia in the neonate: the cerebriform pattern. Pediatr Radiol 1993; 23 (02) 88-90
  • 12 Abd Wahab AV, Lim LM, Mohamed Tarmizi MH. Ovotesticular disorders of sex development: improvement in spermatogonia after removal of ovary and Müllerian structures. J Pediatr Adolesc Gynecol 2019; 32 (01) 74-77
  • 13 Khadilkar KS, Budyal SR, Kasaliwal R. et al. Ovotesticular disorder of sex development: a single-center experience. Endocr Pract 2015; 21 (07) 770-776
  • 14 Kropp BP, Keating MA, Moshang T, Duckett JW. True hermaphroditism and normal male genitalia: an unusual presentation. Urology 1995; 46 (05) 736-739
  • 15 Pires CR, De Moura Poli AH, Zanforlin Filho SM, Mattar R, Moron AF, Debs Diniz AL. True hermaphroditism-the importance of ultrasonic assessment. Ultrasound Obstet Gynecol 2005; 26 (01) 86-88
  • 16 Hughes IA, Davies JD, Bunch TI, Pasterski V, Mastroyannopoulou K, MacDougall J. Androgen insensitivity syndrome. Lancet 2012; 380 9851 1419-1428
  • 17 Michala L, Creighton SM. The XY female. Best Pract Res Clin Obstet Gynaecol 2010; 24 (02) 139-148
  • 18 Grasso D, Borreggine C, Campanale C, Longo A, Grilli G, Macarini L. Usefulness and role of magnetic resonance imaging in a case of complete androgen insensitivity syndrome. Radiol Case Rep 2016; 10 (02) 1119
  • 19 Nezzo M, De Visschere P, T’sjoen G, Weyers S, Villeirs G. Role of imaging in the diagnosis and management of complete androgen insensitivity syndrome in adults. Case Rep Radiol 2013; 2013: 158484
  • 20 Nakhal RS, Hall-Craggs M, Freeman A. et al. Evaluation of retained testes in adolescent girls and women with complete androgen insensitivity syndrome. Radiology 2013; 268 (01) 153-160
  • 21 Alharbi KN, Khushaim AO, Alrasheed M, Akhtar M, Neimatallah M. Radiological findings in persistent Müllerian duct syndrome: case report and review of literature. J Radiol Case Rep 2017; 11 (03) 7-14
  • 22 Da Silva Rios S, Monteiro IC, Braz Dos Santos LG. et al. A case of Swyer syndrome associated with advanced gonadal dysgerminoma involving long survival. Case Rep Oncol 2015; 8 (01) 179-184
  • 23 Agarwal A, Agarwal S. Swyer syndrome with gonadoblastoma: a clinicoradiological approach. J Hum Reprod Sci 2017; 10 (01) 65-68
  • 24 McCann-Crosby B, Mansouri R, Dietrich JE. et al. State of the art review in gonadal dysgenesis: challenges in diagnosis and management. Int J Pediatr Endocrinol 2014; 2014 (01) 4
  • 25 Kim KS, Kim J. Disorders of sex development. Korean J Urol 2012; 53 (01) 1-8
  • 26 Saenger P. Abnormal sex differentiation. J Pediatr 1984; 104 (01) 1-17