Skip to main content

Advertisement

SpringerLink
Log in

Surgical Reconstruction of the Genitalia in a 3-Year-Old Infant with a 46XX Karyotype: Case Report

  • Case Report
  • General Reconstruction
  • Published:
Aesthetic Plastic Surgery Aims and scope Submit manuscript

Abstract

A 3-year-old patient was hospitalized with ambiguous genitalia (clitoromegaly, labioscrotal fusion, absence of vaginal introitus), classified as stage III/IV according to Prader’s virilization scale. Our patient, with a 46XX karyotype, was previously diagnosed with congenital adrenal hyperplasia caused by a deficiency of the adrenal enzyme 21-hydroxylase; corticosteroids and salt replacement therapy have been used. At the present admission, the surgical treatment consisted on clitoroplasty (with the removal of erectile tissue), reconstruction of the labia minor, creation of a neovulva and vaginoplasty. It was a single-step operation to restore the anatomical female structures. She had an uneventful postoperative period and the wound healed well with good cosmetic results. We present the details about the surgical procedure and a short review of data from literature.

Level of Evidence V

This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6
Fig. 7
Fig. 8

References

  1. White PC, Speiser PW (2000) Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocrinol Rev 21:3245–3291

    Google Scholar 

  2. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC (2010) Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab 95:4133–4160

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  3. Bonfig W, Bechtold S, Schmidt H, Knorr D, Schwarz HP (2007) Reduced final height outcome in congenital adrenal hyperplasia under prednisone treatment: deceleration of growth velocity during puberty. J Clin Endocrinol Metab 92:1635–1639

    Article  CAS  PubMed  Google Scholar 

  4. Schnitzer JJ, Donahoe PK (2001) Surgical treatment of congenital adrenal hyperplasia. Endocrinol Metab Clin North Am 30:137–154

    Article  CAS  PubMed  Google Scholar 

  5. Krege S, Walz KH, Hauffa BP, Körner I, Rübben H (2000) Long-term follow-up of female patients with congenital adrenal hyperplasia from 21-hydroxylase deficiency, with special emphasis on the results of vaginoplasty. BJU Int 86:253–259

    Article  CAS  PubMed  Google Scholar 

  6. White PC, Speiser PW (2000) Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Endocr Rev 21:245–291

    CAS  PubMed  Google Scholar 

  7. Rocha RO, Billerbeck AE, Pinto EM, Melo KF, Lin CJ, Longui CA, Mendonca BB, Bachega TA (2008) The degree of external genitalia virilization in girls with 21-hydroxylase deficiency appears to be influenced by the CAG repeats in the androgen receptor gene. Clin Endocrinol 68:226–232

    CAS  Google Scholar 

  8. Park S, Ha SH, Kim KS (2011) Long-term follow-up after feminizing genital reconstruction in patients with ambiguous genitalia and high vaginal confluence. J Korean Med Sci 26:399–403

    Article  PubMed Central  PubMed  Google Scholar 

  9. Snyder HM 3rd (2013) Feminizing genitoplasty: a proven technique. J Craniofac Surg 24:41–43

    Article  PubMed  Google Scholar 

  10. Gonzalez R, Piaggio LA (2006) Ambigous genitalia. Curr Opin Urol 16:273–276

    Article  PubMed  Google Scholar 

  11. Acimi S (2013) Vaginoplasty using the inner surface or mucosa of the prepuce in children with congenital adrenal hyperplasia. J Pediatr Urol 9(6 Pt B):1038–1042

    Article  PubMed  Google Scholar 

  12. Jenak R, Ludwikowski B, Gonzalez R (2001) Total urogenital sinus mobilization: a modified perineal approach for feminizing genitoplasty and urogenital sinus repair. J Urol 165:2347–2349

    Article  CAS  PubMed  Google Scholar 

  13. Pippi Salle JL, Braga LP, Macedo N, Bagli D (2007) Corporeal sparing dismembered clitoroplasty: an alternative technique for feminizing genitoplasty. J Urol 178:1796–1800

    Article  PubMed  Google Scholar 

  14. Fagerholm R, Rintala R, Taskinen S (2013) Lower urinary tract symptoms after feminizing genitoplasty. J Pediatr Urol 9:23–26

    Article  PubMed  Google Scholar 

  15. Fagerholm R, Mattila AK, Roine RP, Sintonen H, Taskinen S (2012) Mental health and quality of life after feminizing genitoplasty. J Pediatr Surg 47:747–751

    Article  PubMed  Google Scholar 

Download references

Acknowledgments

This paper was partly supported by the Sectorial Operational Programme Human Resources Development (SOPHRD), financed from the European Social Fund and by the Romanian Government under the contract number POSDRU/107/1.5/S/80641.

Conflict of Interest

The authors have no conflicts of interest to disclose.

Author information

Authors and Affiliations

  1. Department of Pediatric Surgery, University of Medicine and Pharmacy, Tirgu-Mures, Romania

    Horea Gozar & Zoltan Derzsi

  2. Department of Endocrinology, University of Medicine and Pharmacy, Tirgu-Mures, Romania

    Ionela Pascanu

  3. Department of Pediatric Surgery, Paracelsus Medical University, Salzburg, Austria

    Mircea Ardelean

  4. Department of Pathology, University of Medicine and Pharmacy, 38 Ghe Marinescu Street, 540139, Targu-Mures, Romania

    Simona Gurzu

Authors
  1. Horea Gozar
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Ionela Pascanu
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mircea Ardelean
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Simona Gurzu
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Zoltan Derzsi
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Simona Gurzu.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Gozar, H., Pascanu, I., Ardelean, M. et al. Surgical Reconstruction of the Genitalia in a 3-Year-Old Infant with a 46XX Karyotype: Case Report. Aesth Plast Surg 38, 549–553 (2014). https://doi.org/10.1007/s00266-014-0321-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00266-014-0321-7

Keywords

Search

Navigation