A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features.

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.].

journal_name

Pediatr Ann

journal_title

Pediatric annals

authors

Kanabolo D,Rodriguez J,Waggoner D,Tucker S,Deplewski D,Kaumeyer B,Lastra RR,Gundeti M

doi

10.3928/19382359-20191118-02

subject

Has Abstract

pub_date

2019-12-01 00:00:00

pages

e495-e500

issue

12

eissn

0090-4481

issn

1938-2359

journal_volume

48

pub_type

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