Ambiguous genitalia and intersex

Dominic Frimberger, John P. Gearhart

Research output: Contribution to journalReview articlepeer-review

19 Scopus citations


Intersex disorders are rare congenital malformations with over 80% being diagnosed with congenital adrenal hyperplasia (CAH). It can be challenging to determine the correct gender at birth and a detailed understanding of the embryology and anatomy is crucial. The birth of a child with intersex is a true emergency situation and an immediate transfer to a medical center familiar with the diagnosis and management of intersex conditions should occur. In children with palpable gonads the presence of a Y chromosome is almost certain, since ovotestes or ovaries usually do not descend. Almost all those patients with male pseudohermaphroditism lack Mullerian structures due to MIS production from the Sertoli cells, but the insufficient testosterone stimulation leads to an inadequate male phenotype. The clinical manifestation of all CAH forms is characterized by the virilization of the outer genitalia. Surgical correction techniques have been developed and can provide satisfactory cosmetic and functional results. The discussion of the management of patients with intersex disorders continues. Current data challenge the past practice of sex reassignment. Further data are necessary to formulate guidelines and recommendations fitting for the individual situation of each patient. Until then the parents have to be supplied with the current data and outcome studies to make the correct choice for their child.

Original languageEnglish (US)
Pages (from-to)291-297
Number of pages7
JournalUrologia Internationalis
Issue number4
StatePublished - Dec 1 2005

ASJC Scopus subject areas

  • Urology


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