Ambiguous genitalia in the neonate

P. K. Kottmeier, F. T. Velcek

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Although the neonate with sexual ambiguity may occasionally represent a challenging diagnostic problem, the vast majority can be recognized without delay. Most neonates with external genital anomalies belong to a group of female pseudohermaphrodites in whom simple diagnostic maneuvers, as described, can lead to a prompt diagnosis. The anticipation of a possible salt losing syndrome should allow the physician to make the diagnosis and to initiate therapy without having to wait for complicated serum hormonal levels. To paraphrase Hendren's statement, 'There is no need to await the determination of plasma testosterone concentration in a virilized pigmented 9 day old infant in circulatory collapse, whose electrocardiogram shows peaked T waves and spread QRS complexes.' 5 The classification used in this report hopefully should enable even the physician with little experience to initiate the most appropriate work-up, leading to an early diagnosis and to a decision as to whether to raise the child as male or female. While chromosomal studies, biochemical determinations, and evaluation of internal gonads are necessary to understand the nature of a sexual disorder, the determination of future sex role of the infant is almost invariably based on the shape of the external genitalia. A definite sex role assignment should be made promptly to spare family and child anguish, pain, and embarrassment, keeping in mind that a late sex change, after the age of one of two years, is usually disastrous to the child.

Original languageEnglish
Pages (from-to)163-176
Number of pages14
JournalClinics in Perinatology
Issue number1
StatePublished - 1978
Externally publishedYes


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