A rare case of 47,XXY/46,XY mosaic klinefelter syndrome with unique phenotype
Hasan Simsek |
Abdullah Gul* |
Serhat Yentur |
Ahmet Sahan |
Article Number: irjmbs.18.002 | Pages: 5-9 | Vol. 3 (1), May 2018 | DOI: https://doi.org/10.15739/irjmbs.18.002
Received: January 10, 2018 Accepted: March 12, 2018 Published: April 28, 2018
Abstract
Klinefelter syndrome (KS) is one of the most common congenital chromosomal abnormalities and one of the most common causes of infertility in men. As there are mosaic forms (eg. 47,XXY/46,XY; 47,XXY/46,XX), there are also non-mosaic forms (eg. 47,XXY; 48,XXY; 49,XXXXY; 48,XXYY) of the disease. Although the clinical findings are variable, the mosaic forms have milder phenotype than non-mosaic forms. In addition to common features, some rare findings such as Persistent Mullerian Duct Syndrome, micropenis, cryptorchidism, and hypospadias may accompany the disease. We report here a 27-year-old male 47,XXY/46,XY (80%/20% respectively) mosaic type KS patient with unusual abnormalities like scrotal hyperpigmentation and evident intellectual disability as well as known ones and discuss it in the context of the literature.
Keywords: Klinefelter syndrome, mosaicism, persistent mullerian duct syndrome, scrotal hyperpigmentation
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