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Case Reports
. 2023 Jan 11:13:1080698.
doi: 10.3389/fpsyt.2022.1080698. eCollection 2022.

Case report: Bipolar disorder in 48,XXYY syndrome

Nur Atikah Razali  1 , Tuti Iryani Mohd Daud  1 , Luke Sy-Cherng Woon  1 , Suriati Mohamed Saini  1 , Noor Azimah Muhammad  2 , Shalisah Sharip  1
Affiliations
Case Reports

Case report: Bipolar disorder in 48,XXYY syndrome

Nur Atikah Razali et al. Front Psychiatry. .

Abstract

48,XXYY syndrome is a rare condition. The presentations of impulsive and aggressive behavior have been reported in several case reports among patients with 48,XXYY syndrome. The management of the psychological impact and neuropsychiatric sequela of this condition is a significant issue faced by families, carers, and healthcare professionals. We report a patient, 21-year-old Malay male, with underlying 48,XXYY syndrome with attention deficit hyperactivity disorder (ADHD) and intellectual disability, diagnosed later in adulthood with a bipolar mood disorder and benefited after being started on lithium. We describe the key clinical features and diagnostic workouts that allowed the arrival of the correct psychiatric diagnosis. Challenges in psychopharmacotherapy, including the risks of metabolic syndrome and deep vein thrombosis associated with 48,XXYY syndrome, are also considered. We suggest that for patients with 48,XXYY syndrome, routine psychological screening for mood symptoms such as mania and depression should be done by healthcare professionals with early involvement of psychiatrist in the multidisciplinary team due to the challenges in the management of these patients.

Keywords: 48; XXYY syndrome; aggression; bipolar mood disorder; case report; metabolic syndrome.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

FIGURE 1
FIGURE 1
Timeline of the patient’s progress and medications.
See this image and copyright information in PMC

References

    1. Blumling A, Martyn K, Talboy A, Close S. Rare sex chromosome variation 48, XXYY: an integrative review. Am J Med Genet C Semin Med Genet. (2020) 184:386–403. 10.1002/ajmg.c.31789 - DOI - PubMed
    1. Zhang X, Yang J, Li Y, Ma X, Li R. Sex chromosome abnormalities and psychiatric diseases. Oncotarget. (2017) 8:3969. 10.18632/oncotarget.13962 - DOI - PMC - PubMed
    1. Ji B, Higa K, Kelsoe J, Zhou X. Over-expression of XIST, the master gene for X chromosome inactivation, in females with major affective disorders. EBioMedicine. (2015) 2:909–18. 10.1016/j.ebiom.2015.06.012 - DOI - PMC - PubMed
    1. Teodoroviæ S, Uzelac B. Genetic basis of aggression: overview and implications for legal proceedings. Rom J Leg Med. (2015) 23:193–202. 10.4323/rjlm.2015.193 - DOI
    1. Ricciardi G, Cammisa L, Bove R, Picchiotti G, Spaziani M, Isidori A, et al. Clinical, cognitive and neurodevelopmental profile in tetrasomies and pentasomies: a systematic review. Children. (2022) 9:1719. 10.3390/children9111719 - DOI - PMC - PubMed

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