Case Report
 
Ambiguous genitalia secondary to a Bartholin's cyst in a virilized newborn girl with maternal hyperandrogenemia
Swati Dave-Sharma1, Christian Castillo2, Yolanda Cosme2, Alberto Mendoza2, Evelyn Erickson2
1MD, Pediatric Endocrinology Division, Department of Pediatrics, Lincoln Medical & Mental Health Center, Bronx, NY, United States.
2Department of Pediatrics, Lincoln Medical and Mental Health Center, Bronx, New York, USA.

doi:10.5348/ijcri-2013-04-302-CR-11

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Swati Dave-Sharma
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How to cite this article:
Dave-Sharma S, Castillo C, Cosme Y, Mendoza A, Erickson E. Ambiguous genitalia secondary to a Bartholin's cyst in a virilized newborn girl with maternal hyperandrogenemia. International Journal of Case Reports and Images 2013;4(4):236–240.


Abstract
Introduction: Bartholin's gland cysts are rare in neonates. It is a cystic enlargement of the gland from a blockage of one of the Bartholin's ducts. The duct obstruction could be a result of a genital infection, inflammation or thickened mucus. It is imperative to keep in mind that the presence of a cyst in the genital area can present as ambiguous genitalia requiring careful management and follow-up. Congenital adrenal hyperplasia needs to be ruled out in females presenting with ambiguous genitalia.
Case Report: We report a case of a full term newborn from a 28 years old G2P2 mother who presented with ambiguous genitalia. In the delivery room, the physical examination revealed clitoromegaly with a phallus measuring 2.5x1 cm and otherwise normal examination. A bedside trans-illumination test was positive, indicative of a cyst in the clitoral area. The extensive endocrinological investigations revealed maternal and neontal hyperandrogenemia, 46XX chromosome and ultrasound evidence of presence of normal female internal genitalia. Clitoral enlargement showed spontaneous regression during the subsequent outpatient examinations. Surgery was performed at one year of age for excision of the cyst. The pathology report of the surgical tissue at the time was reported as a Bartholin's cyst.
Conclusion: Bartholin's cysts can be responsible for the presentation of ambiguous genitalia in a newborn girl with hyperandrogenemia. A multi-disciplinary approach is necessary for diagnosis and management of the cyst, and to rule out significant conditions like congenital adrenal hyperplasia.

Keywords: Ambiguous Genitalia, Bartholin's cyst, Virilization, Hyperandrogenemia


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Author Contributions
Swati Dave-Sharma – Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published
Christian Castillo – Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published
Yolanda Cosme – Conception and design, Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published
Evelyn Erickson – Acquisition of data, Analysis and interpretation of data, Drafting the article, Critical revision of the article, Final approval of the version to be published
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The corresponding author is the guarantor of submission.
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Authors declare no conflict of interest.
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© Swati Dave-Sharma et al. 2013; This article is distributed the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any means provided the original authors and original publisher are properly credited. (Please see Copyright Policy for more information.)