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

DISCUSSION

The present case is of a 4 year old male child with hypospadias and cryptorchidism on right side, showing two extra Y chromosomes. The presence of supernumerary Y chromosomes is a rare phenomenon. The mechanism by which a patient gets two extra Y chromosomes is not clear. The most likely explanation appears to be one originally proposed by Townes et al. that non-disjunction in spermatogonia mitosis followed by 2nd non-disjunction of one Y chromosome in meiosis would result in the formation of sperm bearing three Y chromosomes [4]. Sperm containing three Y chromosomes could theoretically be produced by secondary non-disjunction or anaphase lagging in meiosis II from a XYY primary spermatocyte [5]. Fertilization of normal ovum by YYY sperm would probably give rise to the XYYY condition. In the present case, cytogenetic analysis of the peripheral blood of the father of the child showed a normal male chromosomal pattern, indicating the absence of inheritance for the XYY karyotype in the present case. The XYYY pattern is mostly observed with a mosaic pattern of XYY, XY and/or X, [6-18] and can also be seen as a single clone. Out of 15 cases, a mosaic pattern is seen in 7 cases, and pure XYYY is seen in 8 cases (Tables 1 and 2). The range of age in which pure XYYY and mosaic pattern appears is from 13th week to 53 years. Individuals with XYYY have widely varying phenotypes with regard not only to physical signs but also to brain functions and cognitive performance [19]. XYYY is associated with clinical features like bossy behavior, argumentative, loud voiced, friendless [4], frequent respiratory infections, inguinal hernia, hypoplastic middle phalanges with a single palmar crease [4]. In one of the cases, emotional and educational difficulties were noted along with myopia at the age of 5. Behavioral changes such as aggressiveness, violence and uncontrollable acts were observed. These deteriorated gradually [20]. Adult males with 48,XYYY are tall , having incurved little fingers of both hands, small testes with a lack of sexual desire, testicular biopsy with atrophic seminiferous tubules without spermatogenesis [10]. A 32 year old male with 48,XYYY showed semi-Klinefelter characteristics such as a tall stature, teeth dysmorphology, long length of fingers, and partial deformity of the joints [18]. A 19 year old male with 48,XYYY showed dysmorphic features, mental retardation, and abnormal psychosocial functioning [19]. A 5 year old boy with 48,XYYY showed a mosaic pattern 45XO/48,XYYY with hypospadias but showed normal intelligence [7]. A 37 year old obese man with dysplasia of right hip, mental retardation, behavior disturbances, aggressiveness, sexual impulsions and fibrohyalination in the testis showed a mosaic pattern of 46,XY/48,XYYY [13]. A 32 year old male patient with complaint of infertility showed clinical features of long length of fingers and toes, partial deformity of joints and nails, mental health problems, teeth dysmorphology and a karyotype analysis revealed 48,XYYY [21]. 48,XYYY was observed in a fetus after intra cytoplasmic sperm injection (ICSI) [17] and a mosaic pattern of two cell lines 45,X/48,XYYY was observed in the amniotic fluid culture of an 18 week old fetus [22]. Occasional aggressive outbursts and poor emotional stability seem to be fairly consistent among 48,XYYY males [10 ]. In the present case, the 4 year old child showed normal phenotypic features with a height 113 cm and weighing in at 17 kg. The child maintains a good intellectual status, as shown by his school performance but shows an aggressive nature. There was an absence of dental abnormalities and other clinical features except hypospadias and cryptorchidism. The proband was born via a third degree consanguineous marriage and has one brother which is phenotypically and genotypically normal. The karyotype of lymphocytes show 48,XYYY and a FISH analysis shows a mosaic pattern of four different cell lines. 7% of the cells show a normal chromosomal pattern while 73% of the cells show 48,XYYY. 7% of the cells show 47,XYY and 13% of the cells show a 45,X pattern. The ratio of aneuploid cells to euploid cells decides the consequence of a mosaic pattern. The more aneuploid cells there are, the more abnormal the clinical features. This includes the result that the euploid cells are fewer in number, as one of the abnormal clinical features. In the present case, 93% of the cells are aneuploid cells, while 7% of the cells are euploid cells. The clinical features of hypospadias, cryptorchidism, and aggressiveness may be related to the supernumerary Y chromosome. Only one case of XYYY is reported in a fetus and the case of 4 years old male child reported is the first live case with XYYY in India . Genetic counselling of the adult patient and the parents (in case of pediatric age) is strongly recommended. The follow up of the pediatric group of patients will be helpful to study their psychological, sexual, and personality development, thus adding to the understanding of phenotypic features and its relation to presence of triple Y chromosome . Acknowledgment: Authors acknowledge Dr. Arundhati Athalye and Mr. Rupesh Sanap from Jaslok Hospital for carrying out FISH procedure and doing analysis. The authors alone are responsible for the content and writing of this article Declaration of Interest. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.



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