SpringerLink
Log in

Embryology in DSD

  • Chapter
  • First Online:
Disorders|Differences of Sex Development

  • 475 Accesses

Abstract

Embryological variations leading to DSD can be classified into problems relating to sex determination, testicular development or hormonal signalling in the placenta, hypothalamic axis or in defects in the testicular hormones themselves. Atypical development secondary to hormonal anomalies needs to be separated from primary dysmorphogenesis of the genitalia or perineum.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution

Subscribe and save

Springer+ Basic
EUR 32.99 /Month
  • Get 10 units per month
  • Download Article/Chapter or Ebook
  • 1 Unit = 1 Article or 1 Chapter
  • Cancel anytime
Subscribe now

Buy Now

Chapter
EUR 29.95
Price includes VAT (Germany)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
EUR 96.29
Price includes VAT (Germany)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
EUR 123.04
Price includes VAT (Germany)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free ship** worldwide - see info
Hardcover Book
EUR 171.19
Price includes VAT (Germany)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free ship** worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  • Abe T, Hutson JM. Gonadal migration in ambiguous genitalia. Pediatr Surg Int. 1994;9:547–50.

    Google Scholar 

  • Adham IM, Agoulnik AI. Insulin-like 3 signalling in testicular descent. Int J Androl. 2004;27(5):257–65.

    Article  CAS  PubMed  Google Scholar 

  • Akinsal EC, Baydilli N, Imamoglu H, et al. Three cases of Klinefelter's syndrome with unilateral absence of vas deferens. Andrologia 2017;49(9).

    Google Scholar 

  • Alvarez-Nava F, Gonzalez S, Soto S, et al. Mixed gonadal dysgenesis: a syndrome of broad clinical, cytogenetic and histopathologic spectrum. Genet Couns. 1999;10(3):233–43.

    CAS  PubMed  Google Scholar 

  • Behr SC, Courtier JL, Qayyum A. Imaging of Müllerian duct anomalies. Radiographics. 2012;32(6):E233–50.

    Google Scholar 

  • Ben-Meir DB, Hutson JM. The anatomy of the caudal vas deferens in patients with a genital anomaly. J Pediatr Urol. 2005;1(5):349–54.

    Article  Google Scholar 

  • Casey RG, Stunell H, Buckley O, et al. A unique radiological pentad of mesonephric duct abnormalities in a young man presenting with testicular swelling. Br J Radiol. 2008;81(963):e93–6.

    Article  CAS  PubMed  Google Scholar 

  • Chavez-Saldana M, Vigueras-Villasenor RM, Yokoyama-Rebollar E, et al. Single nucleotide polymorphisms associated with nonsyndromic cryptorchidism in Mexican patients. Andrologia. 2018;50(1).

    Google Scholar 

  • Cheng W, Jacobs WB, Zhang JJ, et al. DeltaNp63 plays an anti-apoptotic role in ventral bladder development. Development. 2006;133(23):4783–92.

    Article  CAS  PubMed  Google Scholar 

  • Cimador M, Catalano P, Ortolano R, et al. The inconspicuous penis in children. Nat Rev Urol. 2015;12(4):205–15.

    Article  PubMed  Google Scholar 

  • Clarnette T, Sugita Y, Hutson JM. Genital anomalies in the human and animal models reveal the mechanisms and hormones governing testicular descent. Br J Urol. 1997;79:99–112.

    Article  CAS  PubMed  Google Scholar 

  • Donahoe PK, Crawford JD, Hendren WH. Mixed gonadal dysgenesis, pathogensis, and management. J Pediatr Surg. 1979;14(3):287–300.

    Article  CAS  PubMed  Google Scholar 

  • Forest MG. Diagnosis and treatment of disorders of sexual development. In: DeGroot LJ, Jameson JL, editors. Endocrinology. Philadelphia, PA: Elsevier Saunders. . III; 2006. p. 2779–829.

    Google Scholar 

  • Frasier SD, Bashore RA, Mosier HD. Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins. J Pediatr. 1964;64:740–5.

    Article  CAS  PubMed  Google Scholar 

  • Fu P, Layfield S, Ferraro T, et al. Synthesis, conformation, receptor binding and biological activities of monobiotinylated human insulin-like peptide 3. J Pept Res. 2004;63(2):91–8.

    Article  CAS  PubMed  Google Scholar 

  • Grimbizis GF, Gordts S, Di Spiezio Sardo A, et al. The ESHRE-ESGE consensus on the classification of female genital tract congenital anomalies. Gynecol Surg. 2013;10(3):199–212.

    Article  PubMed  PubMed Central  Google Scholar 

  • Heyns CF. Exstrophy of the testis. J Urol. 1990;144:724–5.

    Article  CAS  PubMed  Google Scholar 

  • Holschneider A, Hutson JM. (editors). Anorectal malformations in children. Berlin: Springer; 2006.

    Google Scholar 

  • Hoogendam JP, Smink M. Gartner’s duct cyst. N Engl J Med. 2017;376(14):e27.

    Article  PubMed  Google Scholar 

  • Hrabovszky Z, Hutson JM. Surgical treatment of intersex abnormalities: a review. Surgery. 2002;131(1):92–104.

    Article  PubMed  Google Scholar 

  • Hutson J, Chow CW, Ng W. Persistent mullerian duct syndrome with transverse testicular ectopia. An experiment of nature with clues for understanding testicular descent. Pediatr Surg Int. 1987;2:191–4.

    Google Scholar 

  • Hutson J, Davidson P, Reece L, et al. Failure of gubernacular development in the persistent mullerian duct syndrome allows herniation of the testes. Pediatr Surg Int. 1994;9:544–6.

    Google Scholar 

  • Hutson JM, Baker M. A hypothesis to explain abnormal gonadal descent in persistent Müllerian duct syndrome. Pediatr Surg Int. 1994;9:542–3.

    Google Scholar 

  • Hutson JM, Li R, Southwell BR, et al. Regulation of testicular descent. Pediatr Surg Int. 2015;31(4):317–25.

    Article  PubMed  Google Scholar 

  • Hutson JM, Lopez-Marambio FA. The possible role of AMH in shortening the gubernacular cord in testicular descent: a reappraisal of the evidence. J Pediatr Surg. 2017;52(10):1656–60.

    Article  PubMed  Google Scholar 

  • Hutson JM, MacLaughlin DT, Ikawa H, et al. Regression of the Müllerian ducts during sexual differentiation in the chick embryo: a reappraisal. In: Greep RO, editor. Vol. IV, Chapt. 5 Reproductive physiology; 1983. p. 177–224.

    Google Scholar 

  • Josso N, Cate RL, Picard JY, et al. Anti-mullerian hormone: the Jost factor. Recent Prog Horm Res. 1993;48:1–59.

    CAS  PubMed  Google Scholar 

  • Kubota Y, Temelcos C, Bathgate RA, et al. The role of insulin 3, testosterone, Müllerian inhibiting substance and relaxin in rat gubernacular growth. Mol Hum Reprod. 2002;8(10):900–5.

    Google Scholar 

  • Lu P, Wang Y, Wang F, et al. Genetic analysis of HOXA11 gene in Chinese patients with cryptorchidism. Andrologia. 2018;50(1).

    Google Scholar 

  • Lund DP, Hendren WH. Cloacal exstrophy: a 25-year experience with 50 cases. J Pediatr Surg. 2001;36(1):68–75.

    Article  CAS  PubMed  Google Scholar 

  • Luvero D, Plotti F, Capriglione S, et al. Undescended or absent ovary without uterine anomalies: systematic review and a single center's experience. Minerva Ginecol. 2017;69(1):35–40.

    PubMed  Google Scholar 

  • Marszalek JR, Ruiz-Lozano P, Roberts E, et al. Situs inversus and embryonic ciliary morphogenesis defects in mouse mutants lacking the KIF3A subunit of kinesin-II. Proc Natl Acad Sci U S A. 1999;96(9):5043–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Miller A, Hong MK, Hutson J. The broad ligament: a review of its anatomy and development in different species and hormonal environments. Clin Anat. 2004;17:244–51.

    Article  PubMed  Google Scholar 

  • Mouriquand PD, Gorduza DB, Gay CL, et al. Surgery in disorders of sex development (DSD) with a gender issue: if (why), when, and how? J Pediatr Urol. 2016;12(3):139–49.

    Article  PubMed  Google Scholar 

  • Murashima A, Xu B, Hinton BT. Understanding normal and abnormal development of the Wolffian/epididymal duct by using transgenic mice. Asian J Androl. 2015;17(5):749–55.

    CAS  PubMed  PubMed Central  Google Scholar 

  • Ngan JH, Mitchell ME. Exstrophic anomalies: recent advances and long-term outlook. Indian J Pediatr. 1997;64(3):327–38.

    Article  CAS  PubMed  Google Scholar 

  • Nihoul-Fekete C, Lortat-Jacob S, Cachin O, et al. Preservation of gonadal function in true hermaphroditism. J Pediatr Surg. 1984;19(1):50–5.

    Article  CAS  PubMed  Google Scholar 

  • Nonaka S, Tanaka Y, Okada Y, et al. Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein. Cell. 1998;95(6):829–37.

    Article  CAS  PubMed  Google Scholar 

  • Reiner WG, Gearhart JP. Discordant sexual identity in some genetic males with cloacal exstrophy assigned to female sex at birth. N Engl J Med. 2004;350(4):333–41.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Scott JE. The Hutson hypothesis. A clinical study. Br J Urol. 1987;60(1):74–6.

    Article  CAS  PubMed  Google Scholar 

  • Sheih CP, Hung CS, Wei CF, et al. Cystic dilatations within the pelvis in patients with ipsilateral renal agenesis or dysplasia. J Urol. 1990;144(2 Pt 1):324–7.

    Article  CAS  PubMed  Google Scholar 

  • Slaoui A, Regragui S, Lasri A, et al. Zinner’s syndrome: report of two cases and review of the literature. Basic Clin Androl. 2016;26:10.

    Article  PubMed  PubMed Central  Google Scholar 

  • Srinivasan J, McDougall P, Hutson JM. When is ‘intersex’ not intersex? A case of penile agenesis demonstrates how to distinguish non-endocrine disorders in neonates with genital anomaly. J Paediatr Child Health. 2003;39(8):629–31.

    Article  CAS  PubMed  Google Scholar 

  • Stephens FD, Smith ED, Hutson JM. Congenital anomalies of the urinary and genital tracts. Oxford: I. M. Medica; 1996. p. 80–90.

    Google Scholar 

  • Strubbe EH, Willemsen WN, Lemmens JA, et al. Mayer-Rokitansky-Kuster-Hauser syndrome: distinction between two forms based on excretory urographic, sonographic, and laparoscopic findings. Am J Roentgenol. 1993;160(2):331–4.

    Google Scholar 

  • Takeda S, Yonekawa Y, Tanaka Y, et al. Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A−/− mice analysis. J Cell Biol. 1999;145(4):825–36.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Tong SY, Hutson JM, Watts LM. Does testosterone diffuse down the Wolffian duct during sexual differentiation? J Urol. 1996;155(6):2057–9.

    Google Scholar 

  • Veale JF, Clarke DE, Lomax TC. Biological and psycholsocial correlates of adult gender-variant identities: a review. Personal Individ Differ. 2010;48(4):357–66.

    Article  Google Scholar 

  • Wolffenbuttel KP, Hersmus R, Stoop H, et al. Gonadal dysgenesis in disorders of sex development: diagnosis and surgical management. J Pediatr Urol. 2016;12(6):411–6.

    Article  CAS  PubMed  Google Scholar 

  • Zah W, Kalderon AE, Tucci JR. Mixed gonadal dysgenesis. Acta Endocrinol Suppl (Copenh). 1975;197:1–39.

    CAS  Google Scholar 

  • Zielinska D, Zajaczek S, Rzepka-Gorska I. Tumors of dysgenetic gonads in Swyer syndrome. J Pediatr Surg. 2007;42(10):1721–4.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Urology, The Royal Children’s Hospital, Melbourne, VIC, Australia

    John M. Hutson & Aurore Bouty

  2. Murdoch Children’s Research Institute, Melbourne, VIC, Australia

    John M. Hutson & Aurore Bouty

  3. Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia

    John M. Hutson

Authors
  1. John M. Hutson
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Aurore Bouty
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to John M. Hutson .

Editor information

Editors and Affiliations

  1. Department of Urology, The Royal Children’s Hospital, Melbourne, VIC, Australia

    John M. Hutson

  2. Department of Gynaecology, The Royal Children’s Hospital, Melbourne, VIC, Australia

    Sonia R. Grover

  3. Endocrinology & Diabetes, Royal Children's Hospital Endocrinology & Diabetes, Melbourne, VIC, Australia

    Michele A. O'Connell

  4. Department of Urology, The Royal Children’s Hospital, Melbourne, VIC, Australia

    Aurore Bouty

  5. Department of Gynaecology, The Royal Children’s Hospital, Melbourne, VIC, Australia

    Chloe A. Hanna

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Nature Singapore Pte Ltd.

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Hutson, J.M., Bouty, A. (2020). Embryology in DSD. In: Hutson, J., Grover, S., O'Connell, M., Bouty, A., Hanna, C. (eds) Disorders|Differences of Sex Development. Springer, Singapore. https://doi.org/10.1007/978-981-13-7864-5_5

Download citation

Publish with us

Policies and ethics

Search

Navigation