Skip to main content
SpringerLink
Log in

Pathologische Befunde am äußeren Genitale/Intersex

Obvious aspects of the external genitalia in disorders of sexual differentiation

Der Urologe Aims and scope Submit manuscript

Cite this article

Zusammenfassung

Die Geburt eines Kindes mit uneindeutigem äußeren Genitale stellt für die Eltern eine extreme psychische Belastung dar. Daher ist es wichtig, dass von ärztlicher Seite rasch die richtige Diagnose gestellt wird. Bereits die Inspektion des Genitale kann hier richtungsweisende Hinweise geben. Laborchemische und molekulargenetische Untersuchungen führen in der Regel zur richtigen Diagnose. Obligatorisch ist zudem eine Chromosomenanalyse.

Um sich die unterschiedlichen Erscheinungsformen besser ableiten zu können, geht der Artikel zunächst auf die normale embryologische sexuelle Differenzierung ein. Im Weiteren werden dann die äußeren Aspekte des vermännlichten äußeren Genitale bei chromosomal weiblichem Geschlecht bzw. des verweiblichten Genitale bei chromosomal männlichem Geschlecht beschrieben und Unterschiede herausgestellt. Neben Nennung der wichtigsten Ursachen wird kurz auf die Diagnostik und Therapieplanung eingegangen.

Abstract

Birth of a child with intersexual external genitalia poses a severe psychological burden for the parents. Therefore, it is of utmost importance to find the correct diagnosis quickly. Inspection of the genitalia might already give important hints. Serological and molecular genetic examinations can verify the diagnosis in the majority of cases. Chromosomal analysis is obligatory.

To understand the different appearances of intersexual genitalia, first the normal embryological sexual differentiation is explained in the article. Then the aspects of virilized genitalia in cases of a chromosomal 46,XX child and of female appearing genitalia in cases of a chromosomal 46,XY child are described. Differences are analysed. Besides mentioning the main causes of disorders in sexual differentiation a brief summary of diagnostics and therapeutic considerations is given.

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

Abb. 1
Abb. 2
Abb. 3
Abb. 4
Abb. 5
Abb. 6
Abb. 7
Abb. 8
Abb. 9

Literatur

  1. Grumbach MM, Hughes IA, Conte FA (2003) Disorders of sex differentiation. In: Larsen PR, Kronenberg HM, Melmed S, Polonsky KS (eds) Williams textbook of endocrinology, 10. edn. Saunders, Philadelphia, pp 842–1002

  2. MacLaughlin DT, Donahoe PK (2004) Sex determination and differentiation. N Engl J Med 350:367–378

    Article  CAS  PubMed  Google Scholar 

  3. Hughes IA (2002) Intersex. BJU Int 90:769–776

    Article  CAS  PubMed  Google Scholar 

  4. Hughes IA, Houk C, Ahmed SF et al (2006) Consensus statement on management of intersex disorders. J Pediatr Urol 2:148–162

    Article  CAS  PubMed  Google Scholar 

  5. Hughes IA (1998) Congenital adrenal hyperplasia: A continuum of disorders. Lancet 352:752–754

    Article  CAS  PubMed  Google Scholar 

  6. American Academy of Pediatrics; Committee on Genetics (2000) Evaluation of the newborn with developmental anomalies of the external genitalia. Pediatrics 106:138–144

    Article  Google Scholar 

  7. Brown J, Warne G (2005) Practical management of the intersex infant. J Pediatr Endocrionol Metab 18:3–23

    Google Scholar 

  8. Dessens AB, Slijper SM, Drop SL (2005) Gender dysphoria and gender change in chromosomal females with congenital adrenal hyperplasia. Arch Sex Behav 32:389–397

    Article  Google Scholar 

  9. Lee PA, Witchel SF (2002) Genital surgery among females with congenital adrenal hyperplasia: changes over the past five decades. J Pediatr Endocrinol 15:1473–1477

    Google Scholar 

  10. Alizai N, Thomas DFM, Lilford RJ et al (1999) Feminizing genitoplasty for congenital adrenal hyperplasia: what happens at puberty? J Urol 161:1588–1591

    Article  CAS  PubMed  Google Scholar 

  11. Migeon CJ, Wisniewski AB, Gearhart JP et al (2002) Ambiguous genitalia with perineoscrotal hypospadias in 46,XY indviduals: long-term medical, surgical, and psychosexual outcome. Pediatrics 110:31

    Article  Google Scholar 

  12. Wisniewski AB, Migeon CJ, Meyer-Bahlburg HF et al (2000) Complete androgen insensitivity syndrome: long-term medical, surgical, and psychosexual outcome. J Clin Endocrinol Metab 85:2664–2669

    Article  CAS  PubMed  Google Scholar 

  13. Morel Y, Rey R, Teinturier C et al (2002) Aetiological diagnosis of male sex ambiguity: a collaborative study. Eur J Pediatr 161:49–59

    CAS  PubMed  Google Scholar 

  14. Ahmed SF, Cheng A, Dovey L et al (2000) Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab 85:658–665

    Article  CAS  PubMed  Google Scholar 

  15. Reiner WG, Kropp BP (2004) A 7-year experience of genetic males with severe phallic inadequacy assigned female. J Urol 172:2395–2398

    Article  PubMed  Google Scholar 

  16. Meyer-Bahlburg HF (2005) Gender identity outcome in female-raised 46,XY persons with penile agenesis, cloacal exstrophy of the bladder, or penile ablation. Arch Sex Behav 34:423–4378

    Article  PubMed  Google Scholar 

  17. Meyer-Bahlburg HFL, Migeon CJ, Berkovitz GD et al (2004) Attitudes of adult 46,XY intersex persons to clinical management policies. J Urol 171:165–1619

    Google Scholar 

Download references

Interessenkonflikt

Der korrespondierende Autor gibt an, dass kein Interessenkonflikt besteht.

Author information

Authors and Affiliations

  1. Klinik für Urologie und Kinderurologie, Alexianer Krankenhaus Maria-Hilf GmbH, Dießemerbruch 81, 47805, Krefeld, Deutschland

    S. Krege

Authors
  1. S. Krege
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to S. Krege.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Krege, S. Pathologische Befunde am äußeren Genitale/Intersex. Urologe 49, 1490–1495 (2010). https://doi.org/10.1007/s00120-010-2405-6

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00120-010-2405-6

Schlüsselwörter

Keywords

search

Navigation