Abstract |
45,X/46,XY mosaicism is one of a heterogenous group of congenital conditions known as differences ( disorders) of sex development (DSD) that results in abnormal development of internal and external genitalia. Patients with DSD, particularly those with segments of the Y chromosome, are at increased risk for germ cell tumors including gonadoblastoma. Gonadoblastoma is a neoplasm comprised of a mixture of germ cells and elements resembling immature granulosa or Sertoli cells with or without Leydig cells or lutein-type cells in an ovarian type stroma. Gonadoblastoma has an increased prevalence of 15% to 40% in patients with 45,X/46,XY mosaicism and has been previously reported in patients as young as 5 months of age with that karyotype. Herein, we describe a 3-month-old child with 45,X/46,XY karyotype who was referred for the evaluation of asymmetric labia majora. Additional evaluation revealed left streak gonad and right dysplastic/dysgenetic testis. Both gonads contained foci of cells typical for gonadoblastoma as well as undifferentiated gonadal tissue, underscoring the potential for very early infantile gonadoblastoma and the spectrum of developmental anomalies associated with this karyotype.
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Authors | Lara Berklite, Selma F Witchel, Svetlana A Yatsenko, Francis X Schneck, Miguel Reyes-Múgica |
Journal | Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
(Pediatr Dev Pathol)
2019 Jul-Aug
Vol. 22
Issue 4
Pg. 380-385
ISSN: 1615-5742 [Electronic] United States |
PMID | 30646821
(Publication Type: Case Reports, Journal Article)
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Topics |
- Disorders of Sex Development
(diagnosis, genetics, pathology)
- Female
- Gonadal Dysgenesis, Mixed
(diagnosis, genetics, pathology)
- Gonadoblastoma
(diagnosis, genetics, pathology)
- Humans
- Infant, Newborn
- Karyotype
- Male
- Mosaicism
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