Diboro Kanabolo on Muck Rack

Diboro Kanabolo

As seen in: Pediatric Annals
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Articles

A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features

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By Diboro Kanabolo, Joseph Rodriguez, Darrel Waggoner, Susan Tucker
| Pediatric Annals Verified
We report on a case of a 14-year-old phenotypic female with a microdeletion at 13q31.1-q31.3, dysmorphic facial and limb features, and neurologic symptoms. She presented to her pediatrician with concerns for delayed puberty, and laboratory analysis revealed hypergonadotropic hypogonadism. She was found to have an XY karyotype and streak gonads.
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