Ambiguous Genitalia

Assignment of gender to the newborn baby is a crucial action to be performed at birth. This is easy in most cases as a baby’s external genitalia correspond to either male or female appearance. Sometimes the formation and appearance of external genitalia is not very clear and that condition is called Ambiguous Genitalia and now the Disorders of Sex Development is used uniformly and universally. The gender and sex of an individual depend on chromosomes, gonads, hormones, the response of the end organs, and rearing. Any aberration in these functions will result in Disorders of Sex Development; ambiguous genitalia is one of them. We present three cases of ambiguous genitalia presenting at different ages. Two cases were of Congenital Adrenal Hyperplasia and a diagnosis of the third case could not be made. We have reviewed the literature and discussed the issues of concern in the management of these sensitive cases.

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Publication Details

Journal
Medical Journal of Dr D Y Patil Vidyapeeth
Published
2025-12-01
DOI
https://doi.org/10.4103/mjdrdypu.mjdrdypu_1122_24
Primary Topic
Sexual Differentiation and Disorders
Type
article
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article

Ambiguous Genitalia

S.K. Kathpalia, Shilpa Kshirsagar
Medical Journal of Dr D Y Patil Vidyapeeth
Sexual Differentiation and Disorders
article

Ambiguous Genitalia

S.K. Kathpalia, Shilpa Kshirsagar
article en

Abstract

Assignment of gender to the newborn baby is a crucial action to be performed at birth. This is easy in most cases as a baby’s external genitalia correspond to either male or female appearance. Sometimes the formation and appearance of external genitalia is not very clear and that condition is called Ambiguous Genitalia and now the Disorders of Sex Development is used uniformly and universally. The gender and sex of an individual depend on chromosomes, gonads, hormones, the response of the end organs, and rearing. Any aberration in these functions will result in Disorders of Sex Development; ambiguous genitalia is one of them. We present three cases of ambiguous genitalia presenting at different ages. Two cases were of Congenital Adrenal Hyperplasia and a diagnosis of the third case could not be made. We have reviewed the literature and discussed the issues of concern in the management of these sensitive cases.

Medical Journal of Dr D Y Patil VidyapeethVol. 18(Suppl 2)
Dr. D. Y. Patil Medical College, Hospital and Research Centre (IN), Dr. D.Y. Patil Vidyapeeth, Pune (IN)
Gender equality
Openalex Percentile: Top 35%
Sexual Differentiation and Disorders
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