A rare case of lateral ovotesticular disorder with Klinefelter syndrome mosaicism 46, XX/47, XXY: An unusual presentation
| Autor: | Sher Singh Yadav, Vinay Tomar, Shyam Talreja, Indraneel Banerjee |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2015 |
| Předmět: |
Gynecology
medicine.medical_specialty Sexual differentiation business.industry Urology Absent facial hair 46XX/47XXY Klinefelter syndrome mosaicism Karyotype Case Report Anatomy lcsh:Diseases of the genitourinary system. Urology lcsh:RC870-923 medicine.disease Pubic hair ovotesticular disorder medicine.anatomical_structure Gynecomastia Medicine Sparse axillary hair Klinefelter syndrome business cyclic hematuria Fallopian tube |
| Zdroj: | Urology Annals Urology Annals, Vol 7, Iss 4, Pp 520-523 (2015) |
| ISSN: | 0974-7834 0974-7796 |
| Popis: | Ovotesticular disorder of sex development (OT-DSD) is a rare disorder of sexual differentiation characterized by the presence of both ovarian and testicular tissues in the same individual. It's incidence ranges from 3% to 10% of all disorder of DSD's, and the most common presentation is 46, XX followed by 46, XX/46, XY mosaicism and 46, XY. Klinefelter syndrome (KS) mosaicism 46, XX/47, XXY is extremely rare, and its association with the ovotesticular disorder is even rarer. We report an unusual case of 16-year-old with male habitus who presented with complains of cyclic hematuria. On examination, he had bilateral gynecomastia, unilateral left cryptorchidism, absent facial hair, sparse axillary hair growth, and pubic hair distribution of feminine type. The right testis was of normal size located normally in hemiscrotum and was confirmed by radio imaging. Ultrasonography and magnetic resonance imaging revealed a cystic area behind posterior half of urinary bladder. Chromosomal analysis revealed 46, XX/47, XXY mosaicism of female karyotype and KS. Histopathological report of this left side excised specimen confirmed the structures to be ovary, uterus, and fallopian tube, thus confirming our diagnosis of the lateral ovotesticular disorder. Meticulous workup combined interdisciplinary approach will lead to early diagnosis and resolve timely sex reassignment issues and also prevent consequences arising due to gonadal insufficiency. |
| Databáze: | OpenAIRE |
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