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A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features

Authors :
Ricardo R. Lastra
Diboro Kanabolo
Benjamin Kaumeyer
Joseph Rodriguez
Dianne Deplewski
Susan Tucker
Mohan S. Gundeti
Darrel Waggoner
Source :
Pediatric Annals. 48
Publication Year :
2019
Publisher :
SLACK, Inc., 2019.

Abstract

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. Further genetic studies did not reveal another cause for her gonadal dysgenesis and, to our knowledge, an association with her known 13q-microdeletion has not yet been reported. Given the risk of malignancy with XY gonadal dysgenesis, the patient had surgery to remove the gonads and had no postoperative complications after a 6-month follow-up visit. We also discuss the role of the pediatrician in cases of delayed puberty, from initial diagnosis to definitive management. [ Pediatr Ann . 2019;48(12):e495–e500.]

Details

ISSN :
19382359 and 00904481
Volume :
48
Database :
OpenAIRE
Journal :
Pediatric Annals
Accession number :
edsair.doi.dedup.....9d60c1b1c49848a262982a7987209284
Full Text :
https://doi.org/10.3928/19382359-20191118-02