{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,4]],"date-time":"2026-09-04T17:56:01Z","timestamp":1788544561269,"version":"build-2803163510"},"reference-count":28,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T00:00:00Z","timestamp":1696636800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Life"],"abstract":"<jats:p>Background: Woodhouse\u2013Sakati 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\u2019s individual needs, which take into consideration the patient\u2019s potential for growth, the family\u2019s readiness, and any comorbidities.<\/jats:p>","DOI":"10.3390\/life13102022","type":"journal-article","created":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T14:17:26Z","timestamp":1696688246000},"page":"2022","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["The Successful Management of Primary Amenorrhea in Woodhouse\u2013Sakati Syndrome: A Case Report and a Literature Review"],"prefix":"10.3390","volume":"13","author":[{"given":"Hanadi","family":"Bakhsh","sequence":"first","affiliation":[{"name":"Clinical Sciences Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh 11564, Saudi Arabia"},{"name":"Department of Obstetrics and Gynecology, King Abdullah bin Abdulaziz University Hospital, Princess Nourah Bint Abdulrahman University, Riyadh 11564, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-6277-1190","authenticated-orcid":false,"given":"Norah","family":"Alqntash","sequence":"additional","affiliation":[{"name":"Clinical Sciences Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh 11564, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0051-3714","authenticated-orcid":false,"given":"Ebtesam","family":"Almajed","sequence":"additional","affiliation":[{"name":"Clinical Sciences Department, College of Medicine, Princess Nourah Bint Abdulrahman University, Riyadh 11564, Saudi Arabia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,10,7]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1136\/jmg.20.3.216","article-title":"A Syndrome of Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, and ECG Abnormalities","volume":"20","author":"Woodhouse","year":"1983","journal-title":"J. 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