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

Abstract

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.

Keywords

• Woodhouse–Sakati syndrome (WSS)
• primary amenorrhea
• alopecia
• hormonal replacement therapy (HRT)