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
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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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