Cargando…

Three Siblings With Woodhouse-Sakati Syndrome: A Case Report of A New Saudi Family

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive multi-system genetic disease caused by loss of function mutations in the DCAF17 gene on chromosome 2q31.1. The disease is characterized by gradual neurologic degeneration and polyendocrinopathy, particularly noteworthy for hypogonadism, b...

Descripción completa

Detalles Bibliográficos
Autores principales:	Alhuzaim, Omar N, Ahmad, Mohammad M, Sherbeeni, Suphia M, Almotawa, Fahad, Ali, Abdulrahman S, Alhejaily, Abdul-Mohsen G
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cureus 2022
Materias:	Endocrinology/Diabetes/Metabolism
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812427/ https://www.ncbi.nlm.nih.gov/pubmed/36620807 http://dx.doi.org/10.7759/cureus.32225

Ejemplares similares

A Case of Fluorosis: Fluoride-Induced Osteopetrosis
por: Almakadma, Abdul Hakim, et al.
Publicado: (2021)

DICER1 Syndrome in Twins With Ovarian Sertoli-Leydig Cell Tumor and Papillary Thyroid Carcinoma
por: Al Hussaini, Hessah A, et al.
Publicado: (2023)

Radiological Findings of Woodhouse-Sakati Syndrome: Cases Reported From Saudi Arabia
por: Alzahrani, Arwa M, et al.
Publicado: (2022)

Endocrinological Manifestations of Sanjad-Sakati Syndrome
por: Bashar, Masharib, et al.
Publicado: (2020)

Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies
por: Alharbi, Mariam S.
Publicado: (2021)

Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
por: Zhou, Min, et al.
Publicado: (2021)

Corrigendum: Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
por: Zhou, Min, et al.
Publicado: (2022)

Woodhouse-Sakati Syndrome Presenting With Psychotic Features After Starting Trihexyphenidyl: A Case Report
por: Aljaffer, Mohammed A, et al.
Publicado: (2022)

Genetic epidemiology of Woodhouse-Sakati Syndrome in the Greater Middle East region and beyond: a systematic review
por: Kohil, Amira, et al.
Publicado: (2023)

Woodhouse-Sakati Syndrome: Report of the First Tunisian Family with the C2orf37 Gene Mutation
por: Hdiji, Olfa, et al.
Publicado: (2016)

Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
por: Almeqdadi, Mohammad, et al.
Publicado: (2018)

The Successful Management of Primary Amenorrhea in Woodhouse–Sakati Syndrome: A Case Report and a Literature Review
por: Bakhsh, Hanadi, et al.
Publicado: (2023)

Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
por: Fozia, Fozia, et al.
Publicado: (2021)

Examining the Impact of Socioeconomic Factors and Lifestyle Habits on Obesity Prevalence Among Male and Female Adolescent Students in Asser, Saudi Arabia
por: Alshaikh, Ayoub A, et al.
Publicado: (2023)

Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
por: Chen, Guangmin, et al.
Publicado: (2021)

The Impact of Frequent Glucose Monitoring on the Prevalence of Complications Among Patients With Diabetes in Saudi Arabia
por: Alkhatieb, Maram T, et al.
Publicado: (2023)

The Validity of the American Diabetes Association’s Diabetes Risk Test in a Saudi Arabian Population
por: Aldayel, Faisal A, et al.
Publicado: (2021)

Consanguinity and Diabetes in Saudi Population: A Case-Control Study
por: Alzahrani, Saad H, et al.
Publicado: (2021)

Perceived School Experience of Children and Adolescents With Type 1 Diabetes in the Kingdom of Saudi Arabia
por: Alshelowi, Haila, et al.
Publicado: (2023)

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
por: Sheridan, Molly B., et al.
Publicado: (2015)

Survey of Primary Care Physicians’ Screening and Treatment Practices for Prediabetes in Saudi Arabia
por: Aljehani, Faisal, et al.
Publicado: (2022)

Baseline Characteristics Associated With Sodium-Glucose Cotransporter Inhibitor Prescriptions in Type 2 Diabetic Patients in Jazan, Saudi Arabia
por: Somaili, Mohammed, et al.
Publicado: (2022)

Glucose and Lipid Profiles of Overweight and Obese Children in Riyadh, Saudi Arabia
por: AlAteeq, Mohammed A, et al.
Publicado: (2023)

Quality of Life and Body Mass Index Changes Three Years After Laparoscopic Sleeve Gastrectomy in Taif City, Saudi Arabia
por: Jawhari, Amjad M, et al.
Publicado: (2022)

Intermittent Fasting: Benefits, Side Effects, Quality of Life, and Knowledge of the Saudi Population
por: Shalabi, Hani, et al.
Publicado: (2023)

Knowledge of Thyroid Disease Manifestations and Risk Factors Among Residents of the Eastern Province, Saudi Arabia
por: Alyahya, Abdulwahab, et al.
Publicado: (2021)

Assessing the Risk and Awareness of Type 2 Diabetes Mellitus Among Medical Students in Riyadh, Saudi Arabia
por: Algadheeb, Abdulrahman S, et al.
Publicado: (2023)

Microcephalic Osteodysplastic Primordial Dwarfism in Two Siblings Living in Sindh, Pakistan: A Case Report
por: Saifullah Khan, Shahzeen, et al.
Publicado: (2020)

Awareness and Knowledge of Women About Hormone Replacement Therapy in Taif City, Saudi Arabia
por: Albaqami, Hussam A, et al.
Publicado: (2023)

The Incidence of Hypothyroidism Following Hemithyroidectomy in a Tertiary Academic Center in Saudi Arabia
por: Alhozali, Amani, et al.
Publicado: (2023)

Carbonic Anhydrase II Deficiency in a Saudi Woman
por: Alhuzaim, Omar N, et al.
Publicado: (2015)

Knowledge, Attitude, and Practice Regarding Diabetes Mellitus Among Type 2 Diabetic Patients Attending Primary Health Care Centers in the Jazan Region of Saudi Arabia
por: Mahzari, Mohammad A, et al.
Publicado: (2022)

Association Between Vitamin D Levels and Glycemic Control Among Adult Diabetic Patients in Riyadh, Saudi Arabia
por: Abubaker, Saleh, et al.
Publicado: (2022)

Frequency of Neuropathic Sensory Symptoms Among Patients With Uncontrolled Diabetes Mellitus in Security Forces Hospital, Riyadh, Saudi Arabia
por: Alamri, Abdulrahman, et al.
Publicado: (2021)

The Influence of Eating Habits on Type 2 Diabetes in Saudi Arabia: A Systematic Review
por: Almutairi, Osama M, et al.
Publicado: (2023)

The Prevalence and Pattern of Using Complementary and Alternative Medicine in Saudi Patients With Diabetes: A Cross-Sectional Study
por: Aljulifi, Mohammed Z, et al.
Publicado: (2022)

Prevalence of Hypothyroidism Among Dialysis Patients in Eastern Region, Saudi Arabia
por: Al Hussaini, Hessah A, et al.
Publicado: (2023)

Psychosocial Development in Saudi Adolescents With Type 1 Diabetes Mellitus: A Descriptive Comparative Study
por: Hamzah, Abdulaziz, et al.
Publicado: (2023)

Diabetic Ketoacidosis Treatment Outcome and Associated Factors Among Adult Patients Admitted to the Emergency Department and Medical Wards at King Abdulaziz Medical City, Riyadh, Saudi Arabia
por: Alotaibi, Abdulaziz, et al.
Publicado: (2020)

Persistence of Symptoms Following Infection With COVID-19 Among Patients With Type 1 and Type 2 Diabetes Mellitus in Saudi Arabia
por: Abduljabbar, Maram H, et al.
Publicado: (2023)

Cannot write session to /tmp/vufind_sessions/sess_i97fub951ibc5liffrhnh9is7e