48,XYYY: A RARE CASE REPORT
Sabnis AS, Bhusare D
*Corresponding Author: Dr. Anjali S Sabnis, M.D. Professor and head, Department of Anatomy, MGM Medical College and Hospital, Kamothe, Navi Mumbai - 410209. India, Mobile no: 9820493036, email address: dranjus2003@yahoo.com
page: 103

INTRODUCTION

Gain or loss of chromosome leading to an abnormal number of chromosomes is termed as aneuploidy. Aneuploidies are chromosomal abnormalities that represent the change in the number of chromosomes, either in trisomy or monosomy forms, both in autosomes and sex chromosomes X and Y. An alteration in genetic dosage in sex chromosome aneuploidy may lead to neurological deficits and congenital anomalies of the reproductive system. Deletion or presence of an extra X or Y chromosome leads to monosomy and supernumerary chromosomes respectively. Different polysomy conditions like 47,XXY; 47,XYY; 47,XXX; 48,XXYY and monosomy conditions like 45,X (Turner syndrome) are seen with an abnormal number of sex chromosomes. 47,XXY is the most common sex chromosomal aneuploidy with a prevalence of one in 500 males [1]. The 47,XYY condition is the next common sex chromosomal abnormality after Klinefelter syndrome [2]. 48,XYYY is a rare condition where the presence of two extra supernumerary Y chromosomes alters the genetic dosage. Up until now, very few cases of XYYY have been reported across the world, with wide variety of clinical features. In the present case, a 4 year old boy was genetically investigated in order to find an association with hypospadias with undescended testis. The karyotype analysis revealed 48,XYYY without mosaics, which was confirmed by FISH with mosaicism, 48,XYYY (73%); 47,XYY (7%); 46,XY(7%) and 45,X(13%). Associated with 48,XYYY are phenotypic changes in neurological development, reproductive system development, and skeletal system development leading to mental retardation, small testes, cryptorchidism, lack of sexual desire, dysmorphic features and behavior disturbances. These occur because of the extra gene dosage mechanism . The present case is discussed in detail for clinical and combined karyotyping and FISH investigations in order to study the association with hypospadias along with undescended testis.



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