Search

for
Search:

GlossaryWoodhouse-Sakati syndrome

rare genetic disorder causing hair loss, diabetes, and other symptoms

Woodhouse-Sakati syndrome is a rare genetic disorder characterized by a combination of symptoms including hair loss (alopecia), diabetes, hearing loss, intellectual disability, and hypogonadism (underdeveloped sex organs). It is caused by mutations in the DCAF17 gene and is inherited in an autosomal recessive pattern, meaning both copies of the gene in each cell have mutations.

Related Terms

Sort by

Research

30 / 75 results

research Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature

31 citations , January 2014 in “Journal of endocrinological investigation”

Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.

The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

7 citations , January 2015 in “Case reports in genetics”

Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.

research Woodhouse-Sakati syndrome (WSS)

5 citations , November 2021 in “Saudi medical journal”

The document reports three sisters with Woodhouse-Sakati syndrome showing typical symptoms and unusual gynecological anomalies.

research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family

4 citations , December 2021 in “Journal of clinical laboratory analysis”

A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.

Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene

3 citations , December 2021 in “Frontiers in endocrinology”

A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.

research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family

1 citations , September 2021 in “Frontiers in genetics”

A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.

research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”

1 citations , August 2021 in “Canadian journal of neurological sciences”

Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.

research Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

14 citations , March 2018 in “The American journal of case reports”

People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.

research Index

November 2019 in “Harper's Textbook of Pediatric Dermatology”

The document is a detailed medical reference on skin and genetic disorders.

research To grow or not to grow: Hair morphogenesis and human genetic hair disorders

43 citations , January 2014 in “Seminars in Cell & Developmental Biology”

Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.

research Genetic Disorders and Defects in Vitamin D Action

151 citations , June 2010 in “Endocrinology and metabolism clinics of North America”

Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.

research The Role of Pannexin 3 in Bone Biology

32 citations , November 2016 in “Journal of Dental Research”

Pannexin 3 is important for bone formation and the development of bone cells.

Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation

research Experience of intravenous calcium treatment and long-term responses to treatment in a patient with hereditary vitamin D-resistant rickets resulting from a novel mutation

1 citations , May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism”

Intravenous calcium therapy is a safe and effective treatment for a rare type of rickets.

Exogenous Testosterone (T) Alone or with Finasteride Increases Physical Performance, Grip Strength, and Lean Body Mass in Older Men with Low Serum T

research Exogenous Testosterone (T) Alone or with Finasteride Increases Physical Performance, Grip Strength, and Lean Body Mass in Older Men with Low Serum T

506 citations , March 2005 in “The Journal of Clinical Endocrinology and Metabolism”

Testosterone therapy improves physical function, strength, and body composition in older men with low testosterone levels.

Body composition changes and inhibition of fat development in vivo implicates androgen in regulation of stem cell lineage allocation

research Body composition changes and inhibition of fat development in vivo implicates androgen in regulation of stem cell lineage allocation

37 citations , June 2011 in “Journal of Cellular Biochemistry”

Androgen is important in controlling stem cell differentiation, reducing fat development, and increasing lean mass.

research Pharmacology of anabolic steroids

441 citations , June 2008 in “British Journal of Pharmacology”

Anabolic steroids can build muscle and strength but have risks and need more research on their clinical benefits and side effects.

research Androgen Therapy in Women: An Endocrine Society Clinical Practice Guideline

282 citations , October 2006 in “The Journal of Clinical Endocrinology and Metabolism”

The Endocrine Society advised against routine testosterone therapy for women, citing a need for more research on long-term safety and a clear definition of androgen deficiency.

research The ZIP7 Gene (Slc39a7) Encodes a Zinc Transporter Involved in Zinc Homeostasis of the Golgi Apparatus

195 citations , April 2005 in “Journal of biological chemistry/The Journal of biological chemistry”

The ZIP7 gene helps control zinc levels in cells by moving zinc from the Golgi apparatus to the cytoplasm.

research Epigenetic control of adult stem cell function

179 citations , July 2016 in “Nature Reviews Molecular Cell Biology”

Epigenetic changes control how adult stem cells work and can lead to diseases like cancer if they go wrong.

Effect of Testosterone Supplementation With and Without a Dual 5α-Reductase Inhibitor on Fat-Free Mass in Men With Suppressed Testosterone Production

research Effect of Testosterone Supplementation With and Without a Dual 5α-Reductase Inhibitor on Fat-Free Mass in Men With Suppressed Testosterone Production

124 citations , March 2012 in “JAMA”

Testosterone's muscle-building effects do not require its conversion to DHT.

research Testosterone Supplementation for Aging-Associated Sarcopenia

92 citations , November 2003 in “The Journals of Gerontology”

Testosterone supplements can increase muscle mass and strength in older men with low levels, but long-term effects and risks need more research.

research Congenital Adrenal Hyperplasia

88 citations , October 2017 in “Journal of Pediatric and Adolescent Gynecology”

The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.

research Safety of testosterone treatment in postmenopausal women

81 citations , July 2007 in “Fertility and Sterility”

Testosterone therapy seems safe for postmenopausal women for a few years, but more research is needed for long-term effects.

Exogenous Testosterone Alone or With Finasteride Does Not Improve Measurements of Cognition in Healthy Older Men With Low Serum Testosterone

research Exogenous Testosterone Alone or With Finasteride Does Not Improve Measurements of Cognition in Healthy Older Men With Low Serum Testosterone

77 citations , November 2007 in “International Journal of Andrology”

Testosterone with or without finasteride doesn't improve thinking skills in older men with low testosterone.

research Zinc deficiency and its management in the pediatric population: A literature review and proposed etiologic classification

75 citations , October 2013 in “Journal of the American Academy of Dermatology”

Zinc deficiency in children can cause skin issues and can be serious if not diagnosed and treated properly.

Ovarian leukocyte distribution and cytokine/chemokine mRNA expression in follicular fluid cells in women with polycystic ovary syndrome

research Ovarian leukocyte distribution and cytokine/chemokine mRNA expression in follicular fluid cells in women with polycystic ovary syndrome

69 citations , September 2006 in “Human Reproduction”

Women with PCOS have fewer activated T cells in their ovarian follicles, which might affect fertility.

Evidence-based approach to cutaneous hyperandrogenism in women

research Zinc in skin pathology and care

35 citations , January 2006 in “Journal of Dermatological Treatment”

Zinc can help with some skin problems, but its effectiveness varies depending on the condition.