A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features.

doi:10.3928/19382359-20191118-02

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Article

A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features.

Pediatric annals - 1 Dec 2019

Kanabolo Diboro, Rodriguez Joseph, Waggoner Darrel, Tucker Susan, Deplewski Dianne, Kaumeyer Benjamin, Lastra Ricardo R, Gundeti Mohan

Abstract excerpt

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...

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PMID: 31830290
DOI: 10.3928/19382359-20191118-02

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.