Disorders of sexual development: structured radiological reporting and practical approach

Ishan Kumar1, Adity Prakash1, Priyanka Aggarwal2, Sarita Chowdhary3, Ashish Verma1
1Department of Radiodiagnosis and Imaging, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India
2Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India
3Department of Pediatric Surgery, Institute of Medical Sciences, Banaras Hindu University, Varanasi, India

Tóm tắt

Disorders of sexual development (DSD) comprise a complex group of conditions with varied clinical presentations, such as atypical genitalia, non-palpable testes, primary amenorrhea, or infertility. Besides being associated with other congenital anomalies, DSDs bear substantial ethical issues regarding assigning the sex of rearing to the child and future fertility options. Establishing the correct diagnosis is essential for the appropriate management of such cases. Various imaging modalities, such as ultrasonography, genitography, and MRI, when complemented with detailed clinical evaluation and karyotyping, are the key to diagnosing the condition. This article attempts to present a concise approach to various patterns of DSD, which will aid radiologists to solve these diagnostic dilemmas.

Tài liệu tham khảo

El-Sherbiny M. Disorders of sexual differentiation: I. Genetics and pathology. Arab J Urol 2013;11:19-26. Chavhan GB, Parra DA, Oudjhane K, Miller SF, Babyn PS, Pippi Salle FL. Imaging of ambiguous genitalia: classification and diagnostic approach. Radiographics 2008; 28:1891-1904. Cohen HL, Sheorain VK. Disorders of sex differentiation. In: Coley B (ed). Caffey's Pediatric Diagnostic Imaging. (12th ed). Elsevier Saunders; 2013. Witchel SF. Disorders of sex development. Best Pract Res Clin Obstet Gynaecol 2018; 48:90-102. Wisniewski AB, Batista RL, Costa EMF, et al. Management of 46,XY Differences/Disorders of Sex Development (DSD) Throughout Life. Endocr Rev 2019; 40:1547-1572. Mehmood KT, Rentea RM. Ambiguous Genitalia And Disorders of Sexual Differentiation. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022. Avni FE, Lerisson H, Lobo ML et al.. Plea for a standardized imaging approach to disorders of sex development in neonates: consensus proposal from European Society of Paediatric Radiology task force. Pediatr Radiol. 2019 ;49(9):1240-1247. Al Jurayyan NA. Disorders of sex development: diagnostic approaches and management options-an islamic perspective. Malays J Med Sci 2011;18:4-12. McCann-Crosby B, Mansouri R, Dietrich JE, McCullough LB, Sutton VR, Austin EG, Schlomer B, Roth DR, Karaviti L, Gunn S, Hicks MJ, Macias CG. State of the art review in gonadal dysgenesis: challenges in diagnosis and management. Int J Pediatr Endocrinol 2014;2014:4 Koziell A, Grundy R. Frasier and Denys-Drash syndromes: different disorders or part of a spectrum? Arch Dis Child 1999;81:365-9. Hryhorczuk AL, Phelps AS, Yu RN, Chow JS. The radiologist's role in assessing differences of sex development. Pediatr Radiol 2022;52:752-764. Moshiri M, Chapman T, Fechner PY, et al. Evaluation and management of disorders of sex development: multidisciplinary approach to a complex diagnosis. Radiographics 2012;32:1599-1618. Rumack CM, Levine D. Diagnostic Ultrasound. Philadelphia, PA: Elsevier; 2018. Telli O, Gökçe MI, Haciyev P, Soygür T, Burgu B. Transverse testicular ectopia: a rare presentation with persistent Müllerian duct syndrome. J Clin Res Pediatr Endocrinol 2014;6:180-2 Sameshima YT, Yamanari MG, Silva MA, Neto MJ, Funari MB. The challenging sonographic inguinal canal evaluation in neonates and children: an update of differential diagnoses. Pediatr Radiol 2017;47:461-472 Garel L, Dubois J, Grignon A, Filiatrault D, Van Vliet G. US of the Pediatric Female Pelvis: A Clinical Perspective. RadioGraphics 2001;21:1393-1407 Gambino J, Caldwell B, Dietrich R, Walot I, Kangarloo H. Congenital disorders of sexual differentiation: MR findings. Am J Roentgenol 1992;158:363-367. Mansour SM, Hamed ST, Adel L, Kamal RM, Ahmed DM. Does MRI add to ultrasound in the assessment of disorders of sex development?. Eur J Radiol 2012; 81:2403-2410. Guerra-Junior G, Andrade KC, Barcelos IHK, Maciel-Guerra AT. Imaging Techniques in the Diagnostic Journey of Disorders of Sex Development. Sex Dev 2018;12:95-99. Kumar I, Verma A, Ojha R, Aggarwal P, Shukla RC, Srivastava A. Magnetic resonance neurographic confirmation of extensive Plexiform neurofibroma in neurofibromatosis-1 presenting as ambiguous genitalia. Indian J Radiol Imaging. 2016;26(3):332-336. Slowikowska-Hilczer J, Szarras-Czapnik M, Duranteau L, Rapp M, Walczak-Jedrzejowska R, Marchlewska K, Oszukowska E, Nordenstrom A; dsd-LIFE group. Risk of gonadal neoplasia in patients with disorders/differences of sex development. Cancer Epidemiol 2020;69:101800.