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 Annjournal_title
Pediatric annalsauthors
Kanabolo D,Rodriguez J,Waggoner D,Tucker S,Deplewski D,Kaumeyer B,Lastra RR,Gundeti Mdoi
10.3928/19382359-20191118-02subject
Has Abstractpub_date
2019-12-01 00:00:00pages
e495-e500issue
12eissn
0090-4481issn
1938-2359journal_volume
48pub_type
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