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The Successful Management of Primary Amenorrhea in Woodhouse–Sakati Syndrome: A Case Report and a Literature Review

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 pat...

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Detalles Bibliográficos
Autores principales: Bakhsh, Hanadi, Alqntash, Norah, Almajed, Ebtesam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10608343/
https://www.ncbi.nlm.nih.gov/pubmed/37895404
http://dx.doi.org/10.3390/life13102022
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author Bakhsh, Hanadi
Alqntash, Norah
Almajed, Ebtesam
author_facet Bakhsh, Hanadi
Alqntash, Norah
Almajed, Ebtesam
author_sort Bakhsh, Hanadi
collection PubMed
description 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. The patient underwent a genetic analysis, which revealed mutations in the DCAF17 gene, confirming the diagnosis of WSS. Treatment includes hormonal replacement therapy for the induction of puberty. Conclusions: Careful and detailed medical and physical examination led to appropriate testing confirming the WSS diagnosis. Genetic tests for family members and the offspring of the patient are strongly recommended. Treatment timing and dosage are determined by the patient’s individual needs, which take into consideration the patient’s potential for growth, the family’s readiness, and any comorbidities.
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spelling pubmed-106083432023-10-28 The Successful Management of Primary Amenorrhea in Woodhouse–Sakati Syndrome: A Case Report and a Literature Review Bakhsh, Hanadi Alqntash, Norah Almajed, Ebtesam Life (Basel) Case Report 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. The patient underwent a genetic analysis, which revealed mutations in the DCAF17 gene, confirming the diagnosis of WSS. Treatment includes hormonal replacement therapy for the induction of puberty. Conclusions: Careful and detailed medical and physical examination led to appropriate testing confirming the WSS diagnosis. Genetic tests for family members and the offspring of the patient are strongly recommended. Treatment timing and dosage are determined by the patient’s individual needs, which take into consideration the patient’s potential for growth, the family’s readiness, and any comorbidities. MDPI 2023-10-07 /pmc/articles/PMC10608343/ /pubmed/37895404 http://dx.doi.org/10.3390/life13102022 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Bakhsh, Hanadi
Alqntash, Norah
Almajed, Ebtesam
The Successful Management of Primary Amenorrhea in Woodhouse–Sakati Syndrome: A Case Report and a Literature Review
title The Successful Management of Primary Amenorrhea in Woodhouse–Sakati Syndrome: A Case Report and a Literature Review
title_full The Successful Management of Primary Amenorrhea in Woodhouse–Sakati Syndrome: A Case Report and a Literature Review
title_fullStr The Successful Management of Primary Amenorrhea in Woodhouse–Sakati Syndrome: A Case Report and a Literature Review
title_full_unstemmed The Successful Management of Primary Amenorrhea in Woodhouse–Sakati Syndrome: A Case Report and a Literature Review
title_short The Successful Management of Primary Amenorrhea in Woodhouse–Sakati Syndrome: A Case Report and a Literature Review
title_sort successful management of primary amenorrhea in woodhouse–sakati syndrome: a case report and a literature review
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10608343/
https://www.ncbi.nlm.nih.gov/pubmed/37895404
http://dx.doi.org/10.3390/life13102022
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