Cargando…

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

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 Klinef...

Descripción completa

Detalles Bibliográficos
Autores principales:	Katulanda, Prasad, Rajapakse, J. Rasika D. K., Kariyawasam, Jayani, Jayasekara, Rohan, Dissanayake, Vajira H. W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Medknow Publications & Media Pvt Ltd 2012
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3475914/ https://www.ncbi.nlm.nih.gov/pubmed/23087874 http://dx.doi.org/10.4103/2230-8210.100642

Ejemplares similares

Hypergonadotrophic hypogonadism and cerebellar ataxia in an Indian adolescent: A rare report
por: Mahale, Rohan R., et al.
Publicado: (2015)

Brain and behavior in 48, XXYY syndrome
por: Hanley, Alli P., et al.
Publicado: (2015)

New frontiers in fertility preservation: a hypothesis on fertility optimization in men with hypergonadotrophic hypogonadism
por: Herati, Amin S., et al.
Publicado: (2020)

Distinct mechanism of formation of the 48, XXYY karyotype
por: Balsera, Aránzazu Margallo, et al.
Publicado: (2013)

Case report: Bipolar disorder in 48,XXYY syndrome
por: Razali, Nur Atikah, et al.
Publicado: (2023)

SAT-299 48,xxyy Syndrome: A Case Report
por: Rodrigues, Stela LMR, et al.
Publicado: (2019)

Phenomenology of Tremor In 48,XXYY Syndrome: A Case Report
por: Cartella, Sandy M., et al.
Publicado: (2022)

FRI452 A Rare Case of Klinefelter Syndrome, 48XXYY
por: Kachhadia, Palak, et al.
Publicado: (2023)

Chiari Malformation and Attention Deficit Hyperactivity Disorder
por: DuBow, Anaïs, et al.
Publicado: (2020)

Extreme Tall Stature in a Japanese Boy with a 48,XXYY Karyotype
por: Katsushima, Yuriko, et al.
Publicado: (2008)

Fertility achieved through in vitro fertilization in a male patient with 48,XXYY syndrome
por: Liu, De-Feng, et al.
Publicado: (2018)

SAT-688 Rare Case of 48 XXYY Syndrome with Suspected Type 1 Diabetes Mellitus
por: Aftab, Hassaan B, et al.
Publicado: (2020)

Occurrence of Klinefelter Syndrome Mosaic 45,X/46,XY/47,XXY/48,XXYY/48,XXXY and Primary Hyperparathyroidism
por: Lam-Chung, César Ernesto, et al.
Publicado: (2021)

Clinical and genetic features of Huntington disease in Sri Lanka
por: Sumathipala, Dulika S, et al.
Publicado: (2013)

48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis
por: Zantour, Baha, et al.
Publicado: (2010)

Endodontic management of a hypertaurodontic tooth associated with 48, XXYY syndrome: A review and case report
por: Krishnamoorthy, Sridevi, et al.
Publicado: (2015)

Cognitive, Affective Problems and Renal Cross Ectopy in a Patient with 48,XXYY/47,XYY Syndrome
por: Resim, Sefa, et al.
Publicado: (2015)

48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report
por: Alhalabi, Mohammad Marwan, et al.
Publicado: (2020)

The low frequency of Y chromosome microdeletions in subfertile males in a Sinhalese population of Sri Lanka
por: Wettasinghe, Tithila Kalum, et al.
Publicado: (2012)

Frequency of Hereditary Hemochromatosis Gene (HFE) Variants in Sri Lankan Transfusion-Dependent Beta-Thalassemia Patients and Their Association With the Serum Ferritin Level
por: Padeniya, Padmapani, et al.
Publicado: (2022)

A novel mutation in SLC37A4 gene in a Sri Lankan boy with glycogen storage disease type Ib associated with very early onset neutropenia
por: Dissanayake, Vajira HW, et al.
Publicado: (2011)

A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation
por: Mutesa, Leon, et al.
Publicado: (2012)

Anatomy of Teaching Anatomy: Do Prosected Cross Sections Improve Students Understanding of Spatial and Radiological Anatomy?
por: Samarakoon, L. B., et al.
Publicado: (2016)

DRD4 48 bp multiallelic variants as age-population-specific biomarkers in attention-deficit/hyperactivity disorder
por: Bonvicini, Cristian, et al.
Publicado: (2020)

Management of attention-deficit hyperactivity disorder
por: Verma, Rohit, et al.
Publicado: (2011)

The history of attention deficit hyperactivity disorder
por: Lange, Klaus W., et al.
Publicado: (2010)

Stigma in attention deficit hyperactivity disorder
por: Mueller, Anna K., et al.
Publicado: (2012)

Attention Deficit Hyperactivity Disorder and Athletes
por: White, Russell D., et al.
Publicado: (2014)

Driving and attention deficit hyperactivity disorder
por: Fuermaier, Anselm B. M., et al.
Publicado: (2015)

Genetics of attention deficit hyperactivity disorder
por: Faraone, Stephen V., et al.
Publicado: (2018)

Neuroimaging in attention-deficit/hyperactivity disorder
por: Pereira-Sanchez, Victor, et al.
Publicado: (2021)

Attention-deficit/hyperactive disorder updates
por: Kessi, Miriam, et al.
Publicado: (2022)

A Sri Lankan child with 49,XXXXY syndrome
por: Dissanayake, Vajira H. W., et al.
Publicado: (2010)

An Infant Born to a Mother with Gestational Diabetes Presenting with 49,XXXXY Syndrome and Renal Agenesis-A Case Report
por: Sumathipala, Dulika, et al.
Publicado: (2012)

Autosomal dominant hereditary ataxia in Sri Lanka
por: Sumathipala, Dulika S, et al.
Publicado: (2013)

Attention deficit hyperactivity disorder (ADHD) & COVID-19: Attention deficit hyperactivity disorder: Consequences of the 1st wave
por: Insa, I., et al.
Publicado: (2021)

Training of attention functions in children with attention deficit hyperactivity disorder
por: Tucha, Oliver, et al.
Publicado: (2011)

Connectivity supporting attention in children with attention deficit hyperactivity disorder
por: Barber, Anita D., et al.
Publicado: (2014)

Attention Patterns in Children with Attention Deficit Disorder with or without Hyperactivity
por: Zalsman, Gil, et al.
Publicado: (2003)

Neurophysiological Correlates of Attentional Fluctuation in Attention-Deficit/Hyperactivity Disorder
por: Cheung, Celeste H. M., et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_80mba6t324hgig13thghimbf7g