Woodhouse-Sakati syndrome (WSS) is a rare genetic condition of autosomal recessive inheritance pattern. The disease is characterized by a group of disorders, including diabetes mellitus, alopecia, hypogonadism, intellectual disability, and progressive extrapyramidal signs. This syndrome is related to an inherited neurodegenerative disorder's heterogeneous group characterized by the accumulation of iron in the brain, caused by a mutation in the gene. This report discusses the case of 3 Saudi sisters having WWS. The 3 sisters aged 18, 22, and 25 years took birth to consanguineous parents (first-degree cousins). The sisters initially had normal developmental growth with deprived scholastic performance because of the intellectual difficulties. At puberty, the secondary sexual characteristics were not developed in the patients, and they faced primary amenorrhea. They were found to have features typical of WSS, but they also had gynecological anomalies, which are considered unusual findings in WSS patients.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149744 | PMC |
| http://dx.doi.org/10.15537/smj.2021.42.11.20210329 | DOI Listing |
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Woodhouse-sakati syndrome with no reportable MRI findings: a case report.
BMC Neurol
September 2024
Wellington Hospital, HCA Healthcare, 27 Circus Road, London, UK.
Article Synopsis
- Woodhouse-Sakati Syndrome (WSS) is a rare genetic disorder characterized by symptoms like hypogonadism and neurological issues, often starting in adolescence, with under 200 known cases.
- A unique case of WSS was presented with no notable MRI findings, differing from typical reports, and included symptoms like abnormal leg movements, clumsiness, dysarthria, and alopecia.
- The patient underwent successful genetic testing for WSS diagnosis and received treatment, including botulinum toxin injections and deep brain stimulation, resulting in significant improvements in mobility and overall quality of life.
Single-cell RNA sequencing reveals the important role of Dcaf17 in spermatogenesis of golden hamsters†.
Biol Reprod
December 2024
State Key Laboratory of Reproductive Medicine and Offspring Health, Clinical Center of Reproductive Medicine, First Affiliated Hospital, Nanjing Medical University, Jiangsu Province, China.
Article Synopsis
- Dcaf17 is a key protein involved in male fertility, with mutations linked to Woodhouse-Sakati Syndrome (WSS) which causes infertility issues like oligoasthenoteratozoospermia (OAT).
- Researchers created a CRISPR-Cas9 model with Dcaf17-deficient golden hamsters, which showed that the absence of Dcaf17 leads to infertility and abnormal sperm development.
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Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters.
JCEM Case Rep
August 2024
Department of Medical Genetics, Sechenov University, 119991 Moscow, Russia.
Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive disorder associated with progressive extrapyramidal signs, mental retardation, alopecia, and a variety of endocrine deficiencies, including diabetes mellitus, hypogonadism, and hypothyroidism. To date, approximately 98 genetically confirmed WSS families have been reported worldwide. This report focuses on a new genetic variant detected in 2 WSS-affected sisters with distinctive phenotypical features.
View Article and Find Full Text PDFWoodhouse-Sakati syndrome: A review.
Rev Neurol (Paris)
February 2024
Department of Medical and Surgical Sciences, and Advanced Technologies, "G.F. Ingrassia", Azienda Ospedaliera Universitaria "G. Rodolico-San Marco", University of Catania, Catania, Italy. Electronic address:
Neurodegeneration with brain iron accumulation (NBIA) is a rare and inherited spectrum of movement disorders caused by mutations affecting the function of proteins that participate in the homeostasis of tissue metals such as iron or copper and other metabolic pathways, although the precise function of the proteins encoded are not always known. Woodhouse-Sakati Syndrome (WSS) is one of the rarest NBIAs. Patients with WSS are characterized by endocrinological and neurological manifestations and neuroradiological findings.
View Article and Find Full Text PDFThe Successful Management of Primary Amenorrhea in Woodhouse-Sakati Syndrome: A Case Report and a Literature Review.
Life (Basel)
October 2023
Clinical Sciences Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh 11564, Saudi Arabia.
Background: Woodhouse-Sakati syndrome (WSS) is a rare multisystemic disease resulting from an autosomal recessive gene mutation characterized by distinctive facial appearance, alopecia, impaired HbA1c, and hypogonadism.
Purpose: To present the successful management of primary amenorrhea in a WSS patient.
Case Presentation: We report a 19-year-old Saudi female referred to the gynecology clinic at the age of 16 as a case of primary amenorrhea.
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