48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

Zantour, B.; Sfar, M.H.; Younes, S.; Alaya, W.; Kamoun, Mahdi; Mkaouar, Emna; Jerbi, Saïda

doi:10.1155/2010/612315

Cited by 7 publications

(9 citation statements)

References 20 publications

(37 reference statements)

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“…However, while tall stature was reported in 48,XXYY syndrome [7], it also concluded that patients with 48,XXYY syndrome were mostly of short stature, which is in accordance with our patient, who was not tall [2]. It was reported that patients with this syndrome suffered from infertility [14] due to its association with hypergonadotropic hypogonadism [3,15] as well as its association with other endocrine manifestations such as acromegaloidism [16]. In our study, this concurred with our clinical findings, and our patient's presenting symptom of infertility, which were suggestive for our patient to undertake genetic testing.…”

Section: Discussionmentioning

confidence: 99%

48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report

Alhalabi

2020

J Med Case Reports

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Background: Long-term infertility can be attributed to many factors, with the genetic factor being the most overlooked due to its many nonspecific morphological or endocrine signs. We present a rare case of a patient with progressive testicular failure associated with 48,XXYY syndrome. Case presentation: A 39-year-old Arab man presented to our fertility clinic for fertility treatment. He was diagnosed with primary infertility, which had been present for 20 years at the time of presentation. Our patient had nonspecific morphological features of an abnormally wide neck with front slouching neck posture, clinodactyly of the third finger, and had moderate hypoandrogenemic features. A semen analysis revealed azoospermia. Genetic tests for azoospermia, including sex-determining region Y (SRY) detection and chromosome Y microdeletion, revealed no deletion present on the Y chromosome. Karyotyping was used and our patient was diagnosed with 48,XXYY syndrome. Conclusion: Genetic testing (karyotyping and so on) played a key role in the diagnosis of our patient with long-term primary infertility secondary to 48,XXYY syndrome, and should play a vital role in all cases of long-term infertility, especially when presentation is accompanied by endocrine, skeletal, or morphological symptoms, signifying an underlying genetic factor.

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Section: Discussionmentioning

confidence: 99%

48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report

Alhalabi

2020

J Med Case Reports

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“…A slight malrotation of the right kidney was also determined. Previous cases with renal aplasia and ectopy were described in 48,XXYY males; however, cross ectopy and malrotation of the kidney in 48,XXYY/47,XYY patients have not been reported in the literature yet [ 5 , 20 ].…”

Section: Discussionmentioning

confidence: 99%

Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

Resim

Küçükdurmaz

Kankılıç

et al. 2015

Case Reports in Genetics

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Klinefelter syndrome is the most common sex chromosome abnormality (SCA) in infertile patients and 47,XXY genomic configuration constitutes most of the cases. However, additional Xs and/or Y such as 48,XXYY, 48,XXXY, and 47,XYY can occur less frequently than 47,XXY. Those configurations were considered as variants of Klinefelter syndrome. In this report, we present an infertile man with tall stature and decreased testicular volume. Semen analysis and hormonal evaluation supported the diagnosis of nonobstructive azoospermia. Genetic investigation demonstrated an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY(17)/47,XYY (13). Additionally, the patient expressed cognitive and affective problems which were documented by psychomotor retardation and borderline intelligence measured by an IQ value between 70 and 80. Systemic evaluation also revealed cross ectopy and malrotation of the right kidney in the patient. The couple was referred to microtesticular sperm extraction (micro-TESE)/intracytoplasmic sperm injection (ICSI) cycles and preimplantation genetic diagnosis (PGD). To the best of our knowledge, this is the first report of combination of XYY and XXYY syndromes associated with cognitive, affective dysfunction and renal malrotation.

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“…One case of 48,XXYY syndrome with unilateral renal aplasia has been previously reported. [ 8 ] He has had impaired glucose tolerance.…”

Section: Discussionmentioning

confidence: 99%

An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations

Katulanda

Rajapakse

Kariyawasam

et al. 2012

Indian J Endocr Metab

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48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders. At one time this condition was considered a variant of Klinefelter syndrome. In clinically suspected cases, 48,XXYY syndrome can be diagnosed by chromosome culture and karyotyping. This patient presented with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder, and renal malformatons. Klinefelter syndrome was clinically suspected. The karyotype confirmed the diagnosis of 48,XXYY syndrome. This is the first reported case of 48,XXYY syndrome from Sri Lanka.

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48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis

Cited by 7 publications

References 20 publications

48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report

48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report

Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome

An adolescent with 48,xxyy syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations

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