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A Phenotypic Female Adolescent with Primary Amenorrhea and Dysmorphic Features
- 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.]
- Subjects :
- Delayed puberty
endocrine system
Pediatrics
medicine.medical_specialty
Adolescent
Gonadal dysgenesis
Female adolescent
Risk Assessment
XY gonadal dysgenesis
Rare Diseases
Hypergonadotropic hypogonadism
medicine
Humans
Genetic Testing
Primary amenorrhea
Amenorrhea
Mullerian Ducts
Genetic testing
Gonadal Dysgenesis, 46,XY
Puberty, Delayed
medicine.diagnostic_test
business.industry
Hypogonadism
medicine.disease
Phenotype
Treatment Outcome
Pediatrics, Perinatology and Child Health
Female
medicine.symptom
business
Follow-Up Studies
Subjects
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