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Clitoromegaly dating what is accommodating female

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She had no breast or pubic hair development but was noted to have clitoromegaly (1.5 cm).

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Further investigation concluded that an epidermoid cyst was the culprit of her pseudoclitoromegaly.

The mother was also reported to demonstrate symptoms of hemolysis, elevated liver enzymes, low platelet count (HELLP) syndrome, and she died during labor.

The infant was then hospitalized due to hypoxic-ischemic encephalopathy (HIE) and neonatal sepsis.

Results: In all patients, a novel homozygous insertion mutation in the fifth exon (568ins C) was found to cause a frameshift in the open reading frame and to truncate the protein prior to the heme-binding region which is crucial for enzymatic activity.

The parents were found to be heterozygous for this mutation.