Abstract
Sexual differentiation goes through three successive phases, including genetic sex determination (genetic sex), primary sexual differentiation, or male/female gonadal development (gonadal sex) and secondary sexual differentiation, or male/female genitalia development (genital sex). Besides, environmental factors can influence sexual and psychological identity. Anomalies in each of these phases can lead to pathologies of sexual development, in which the normal progression of events is disrupted, resulting in disorders of sexual development (DSD), which include genital ambiguity, that is clinical conditions of external genitalia which do not have the typical appearance of male or female genitalia. The age of presentation of DSD varies from the neonatal age to late adolescence, but most of the cases are observed in the perinatal period. As appropriate gender assessment is necessary for healthy physical and psychological development of the child, an early diagnosis must be elicited, to allow proper management, that is medical and/or surgical treatment, that can be necessary since the neonatal age or along life, and also possible preventive strategies, in terms of sexual function, fertility and risk of tumor development. The role of imaging in evaluating the anatomical condition is of paramount importance in the assessment of gender. Ultrasonography (US) is the first-line imaging modality in the definition of the internal and external reproductive organs. US examination can be easily performed and should include, besides the pelvis and the scrotum, also the inguinal, perineal, renal, and adrenal regions, because of the possible involvement or the presence of associated anomalies. Magnetic resonance imaging (MRI), with multiplanar acquisitions and tissue characterization, allows better spatial and structural definition of the internal organs, especially when US fails to identify and/or define exactly the Müllerian structures and the gonads. MRI should include the pelvis and the perineum and also the urinary tract. Genitography and voiding cystourethrography are used to determine internal ductal anatomy. Endoscopic examination (genitoscopy) can often outpace genitography and provide more detailed assessment of the genital tract. The management of DSDs with ambiguous genitalia represents a great challenge for clinicians and a multidisciplinary team is advisable, including at least specialists in endocrinology, surgery and/or urology, radiology, clinical psychology/psychiatry, nursing and neonatology. Clinicians and care givers should be really sensitive to the complex and subjectively unique physical, psychological, social and behavioral situation of DSD patients.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Aaronson IA (2011) Terminology for disorders of sex development: clarity or confusion? J Urol 185:388–389
Aaronson IA, Aaronson AJ (2010) How should we classify intersex disorders? J Pediatr Urol 6:443–446
Achermann JC (2011) Overview of mechanisms of sex determination. Workshop. Disorders of sex development: new directions and persistent doubts. Bologna, Oct, 14–15, 2011
Ahmed SF (2011) An introduction to DSD. Workshop. Disorders of sex development: new directions and persistent doubts. Bologna, Oct, 14–15, 2011
Ahmed SF, Rodie M (2010) Investigation and initial management of ambiguous genitalia. Best Pract Res Clin Endocrinol Metab 24:197–218
Ahmed SF, Khwaja O, Hughes IA (2000) The role of a clinical score in the assessment of ambiguous genitalia. Br J Urol Int 85:120–124
Ahmed SF, Achermann JC, Arlt W, Balen AH, Conway G, Edwards ZL, Elford S, Hughes IA, Izatt L, Krone N, Miles HL, O’Toole S, Perry L, Sanders C, Simmonds M, Wallace AM, Watt A, Willis D (2011) UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development. Clin Endocrinol 75:12–26
Al-Alwan I, Navarro O, Daneman D, Daneman A (1999) Clinical utility of adrenal ultrasonography in the diagnosis of congenital adrenal hyperplasia. J Pediatr 135:71–75
Allen L (2009) Disorders of sexual devolpment. Obstet Gynecol Clin North Am 36(1):23–45
Auchus RJ, Chang AY (2010) 46, XX DSD: the masculinised female. Best Pract Res Clin Endocrinol Metabol 24:219–242
Avni EF, Rypens F, Smet MH, Galetty E (1993) Sonographic demonstration of congenital adrenal hyperplasia in the neonate: the cerebriform pattern. Pediatr Radiol 23:88–90
Bakalov VK, Shawker T, Ceniceros I, Bondy CA (2007) Uterine development in Turner syndrome. J Pediatr 151(5):528–531
Balsamo A (2011) Gender assignment, the past and the present. Workshop. Disorders of sex development: new directions and persistent doubts. Bologna, Oct, 14–15, 2011
Bertelloni S (2011) Diagnosis by LC/MS of DSD steroid genetic defects. Workshop. Disorders of sex development: new directions and persistent doubts. Bologna, Oct, 14–15, 2011
Biason-Lauber A (2010) Control of sex development. Best Pract Res Clin Endocrinol Metab 24:163–186
Biason-Lauber A (2011) Female development: a passive event? Workshop. Disorders of sex development: new directions and persistent doubts. Bologna, Oct, 14–15, 2011
Biswas K, Kapoor A, Karak AK, Kriplani A, Gupta DK, Kucheria K, Ammini A (2004) Imaging in intersex disorders. J Pediatr Endocrinol Metab 17:841–845
Brown MA, Sirlin CB (2005) Female pelvis. Magn Res Imag Clin North Am 13:381–395
Bryan PJ, Caldamone AA, Morrison SC, Yulish BS, Owens R (1988) Ultrasound findings in adrenogenital syndrome. J Ultrasound Med 7:675–679
Chauhan NS, Sharma YP, Sharma S, Sharma S (2011) Complete androgen insensitivity syndrome with microtia: a rare presentation. Jpn J Radiol 29:67–71
Chavhan GB, Parra DA, Oudjhane K, Miller SF, Babyn PS, Pippi Salle JL (2008) Imaging of ambiguous genitalia: classification and diagnostic approach. RadioGraphics 28:1891–1904
Claahsen-van der Grinten HL, Otten BJ, Stikkelbroeck MML, Sweep FCGJ, Hermus ARMM (2009) Testicular adrenal rest tumors in congenital adrenal hyperplasia. Best Pract Res Clin Endocrinol Metab 23:209–220
Cleemann L, Holm K, Fallentin E, Skouby SO, Smedegaard H, Møller N, Borch-Christensen H, Mosfeldt Jeppesen E, Wieslander SB, Andersson AM, Cohen A, Højbjerg Gravholt C (2011) Uterus and ovaries in girls and young women with Turner syndrome evaluated by ultrasound and magnetic resonance imaging. Clin Endocrinol 74:756–761
Cools M, Looijenga LHJ, Wolffenbuttel KP, Drop SLS (2009) Disorders of sex development: update on the genetic background, terminology and risk for the development of germ cell tumors. World J Pediatr 5(2):93–102
Davenport ML (2010) Approach to the patient with Turner syndrome. J Clin Endocrinol Metab 95:1487–1495
Erdogan S, Kara C, Uçaktürk Aydin M (2011) Etiological classification and clinical assessment of children and adolescents with disorders of sex development. J Clin Res Ped Endo 3(2):77–83
Gambino J, Caldwell B, Dietrich R, Walot I, Kangarloo H (1992) Congenital disorders of sexual differentiation: MR findings. AJR 158:363–367
Garel L (2008) Abnormal sex differentiation: who, how and when to image. Pediatr Radiol 38:S508–S511
Halifax (2009) 5th World Congress on Family Law and Children’s Rights, World Trade and Convention Centre, Halifax, Nova Scotia, Canada, Aug, 23–26, 2009
Houk CP, Hughes IA, Ahmed SF, Lee PA, Writing Committee for the International Intersex Consensus Conference Partecipants (2006) Summary of consensus statement on intersex disorders and their management. International intersex consensus conference. Pediatrics 118(2):753–757
Hricak H, Marotti M, Gilbert TJ, Lue TF, Wetzel LH, Mc Aninch JW, Tanagho EA (1988) Normal penile anatomy and abnormal penile conditions: evaluation with MR imaging. Radiology 169:683–690
Hughes IA (2011) Overview of mechanism of sex differentiation. Workshop. Disorders of sex development: new directions and persistent doubts. Bologna, Oct, 14–15, 2011
Hughes IA, Houk C, Ahmed SF, Lee PA (2006) Consensus statement on management of intersex disorders. Arch Dis Child 91(7):554–563
Kim W, Rosen MA, Langer JE, Banner MP, Siegelman ES, Ramchandani P (2007) US–MR imaging correlation in pathologic conditions of the scrotum. RadioGraphics 27:1239–1253
Kim HK, Gottliebson W, Hor K, Backeljauw P, Gutmark-Little I, Salisbury SR, Racadio JM, Helton-Skally K, Fleck R (2011) Cardiovascular anomalies in Turner syndrome: spectrum, prevalence, and cardiac MRI. Findings in a pediatric and young adult population. AJR 196:454–460
Koziell A, Grundy R (1999) Frasier and Denys-Drash syndromes: different disorders or part of a spectrum. Arch Dis Child 81:365–369
Lambert SM, Vilain EJN, Kolon TF (2010) A practical approach to ambiguous genitalia in the newborn period. Urol Clin N Am 37:195–205
Lee PA, Houk CP, Ahmed SF, Hughes IA, In collaboration with the participants in the International Consensus Conference on Intersex organized by the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology (2006) Consensus statement on management of intersex disorders. Pediatrics 118:e488–e500
Looijenga LHJ, Hersmus R, Oosterhuis JW, Cools M, Drop SL, Wolffenbuttel KP (2007) Tumor risk in disorder of sex development (DSD). Best Pract Res Clin Endocrinol Metab 21:480–495
Looijenga LHJ, Hersmus R, de Leeuw BHCGM, Stoop H, Cools M, Oosterhuis JW, Drop SLS, Wolffenbuttel KP (2010) Gonadal tumours and DSD. Best Pract ResClin Endocrinol Metab 24:291–310
Mac Laughlin DT, Donahoe PK (2004) Sex determination and differentiation. NEJM 350(4):367–378
Mazzanti L (2011) 45, XO and variants DSD: long term outcomes of GH treatment. Workshop. Disorders of sex development: new directions and persistent doubts. Bologna, Oct, 14–15, 2011
Mendonca BB, Costa EMF, Belgorosky A, Rivarola MA, Domenice S (2010) 46, XY DSD due to impaired androgen production. Best Pract Res Clin Endocrinol Metab 24:243–262
Murphy C, Allen L, Jamieson MA (2011) Ambiguous genitalia in the newborn: an overview and teaching tool. Mini-review. J Pediatr Adolesc 24:236–250
Nalaboff KM, Pellerito JS, Ben-Levi E (2001) Imaging the endometrium: disease and normal variants. RadioGraphics 21:1409–1424
Ogilvy-Stuart AL, Brain CE (2004) Early assessment of ambiguous genitalia. Arch Dis Child 89:401–407
Pasterski V, Prentice P, Hughes IA (2010) Impact of the consensus statement and the new DSD classification system. Best Pract Res Clin Endocrinol Metab 24:187–195
Pleskacova J, Hersmus R, Oosterhuis JW, Setyawati BA, Faradz SM, Cools M, Wolffenbuttel KP, Lebl J, Drop SL, Looijenga LH (2010) Tumor Risk in Disorders of Sex Development. Sex Dev 4:259–269
Secaf E, Hricak H, Gooding CA, Ho VW, Gorczyca DP, Ringertz H, Conte FA, Kogan BA, Grumbach MM (1994) Role of MRI in the evaluation of ambiguous genitalia. Pediatr Radiol 24:231–235
Shakkebaek NE, Rajpert-De Meyts E, Main KM (2001) Testicular dysgenesis syndrome: an increasingly common developmental disorder with environmental aspects. Hum Reprod 16:972–978
Sivit CJ, Hung W, Taylor GA, Catena LM, Brown-Jones C, Kushner DC (1991) Sonography in neonatal congenital adrenal hyperplasia. AJR 156:141–143
Sultan C, Paris F, Jaendel C, Lumbroso S, Benoit Galifer R, Picaud JC (2004) Ambiguous genitalia in the newborn: diagnosis, etiology and sex assignment. Endocr Dev 7:23–38
Swiatecka-Urban A, Devarajan P (2012) Danys-Drash Syndrome. Medscape
Takeuchi M, MD, Matsuzaki K, Nishitani H (2010) Manifestations of the female reproductive organs on MR images: changes induced by various physiologic states, RadioGraphics 30:1147
Tran CR, Semins Mt, Epstein JI, Gearhart JP (2011) Ovotesticular disorder of sex development with mosaic 45, X/46,X,idic (Y) (q11.23) karyotype and streak gonad. Urology 78:1178–1181
Wasnik AP, Mazza Mb, Liu PS (2011) Normal and variant pelvic anatomy on MRI. Magn Reson Imag Clin N Am 19:546–566
Werner R, Grötsch H, Hiort O (2010) 46, XY disorders of sex development–the undermasculinised male with disorders of androgen action. Best Pract Res Clin Endocrinol Metab 24:263–277
Witchel SF, Azziz R (2011) Congenital adrenal hyperplasia—mini review. J Pediatr Adolesc 24:116–126
Wünsch L, Holterhus PM , Wessel L, Hiort O (2012) Patients with disorders of sex development (DSD) at risk of gonadal tumour development: management based on laparoscopic biopsy and molecular diagnosis. BJU Int doi:10.1111/j.1464-410X.2012.11181.x
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2012 Springer-Verlag Berlin Heidelberg
About this chapter
Cite this chapter
Orazi, C., Cappa, M., Schingo, P.M.S., Tomà, P. (2012). Ambiguous Genitalia. In: Avni, F. (eds) Imaging Endocrine Diseases in Children. Medical Radiology(). Springer, Berlin, Heidelberg. https://doi.org/10.1007/174_2012_593
Download citation
DOI: https://doi.org/10.1007/174_2012_593
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-642-20702-0
Online ISBN: 978-3-642-20703-7
eBook Packages: MedicineMedicine (R0)