Case 652 -- A 7 week old male with ambiguous genitalia and history of Hirschprung disease

Contributed by Matthew A Smith, MD, Octavia Peck-Palmer, PhD and David Finegold MD, PhD.


A seven month old male with a history of ambiguous genitalia and Hirschprung disease presented for follow up evaluation. He was born via normal spontaneous vaginal delivery at 39 weeks to a grava 4 para 3 mother with one previous miscarriage. The pregnancy was uneventful. The physical exam was remarkable for ambiguous genitalia, mildly low set posteriorly rotated ears, and syndactyly of the second and third toes bilaterally. He initially experienced bilious emesis and feeding intolerance and improved secondary to a leveling colostomy and partial colon resection.

Laboratory Testing

The follow up testing for Vitamin E using high pressure liquid chromatography showed an extremely elevated peak at the normal elution point for Vitamin E ( Figure1, Controls). Additional chromatographic testing using an alternate kit and longer retention time revealed that the eleveated peak was 7-dehydrocholesterol and adjacent to this elevated peak was ? tocopherol which was below the detectable limits of the assay (Figure 2, Initial αTocopherol )

. Vitamin E High Pressure Liquid Chromatography

Figure 1: Controls

Figure 2: Initial αTocopherol

Figure 3: Repeat αTocopherol and 7-dehydrocholesterol with an alternate kit

Additional testing for 7-dehydrocholesterol was elevated to 103 ug/ml.


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