Ambiguous Genitalia and Problems with Sexual Differentiation

  • Moris AnguloEmail author


Ambiguity of a newborn’s genitalia or clinical situations in which determining the sex of a newborn is not clear represent a true dilemma in the nursery. Ambiguous genitalia are due to under-masculinization of genetic males or virilization of genetic females. Although congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most common cause of ambiguous genitalia in a newborn, other causes should be considered after ruling out this inherited adrenal condition. Having a systematic approach to the problem and an understanding of the processes of main genetic factors and sex hormones involved in sex determination and differentiation will help the clinician to better diagnose, counsel, and manage these challenging patients.


Ambiguous genitalia Sex determination Sex differentiation Adrenal hyperplasia Gonadal dysgenesis 


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© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.SUNY/Stony Brook School of MedicineStony BrookUSA
  2. 2.Division of GeneticsNYU Winthrop HospitalMineolaUSA

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