Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2023 Oct 7;13(10):2022.
doi: 10.3390/life13102022.

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

Hanadi Bakhsh  1   2 , Norah Alqntash  1 , Ebtesam Almajed  1
Affiliations
Case Reports

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

Hanadi Bakhsh et al. Life (Basel). .

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); alopecia; hormonal replacement therapy (HRT); primary amenorrhea.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Ultrasound of the uterus at presentation when the patient aged 15 years.
Figure 2
Figure 2
Ultrasound of the uterus following the management plan at 19 years old.
See this image and copyright information in PMC

Similar articles

See all similar articles

References

    1. Woodhouse N.J.Y., Sakati N.A. A Syndrome of Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, Deafness, and ECG Abnormalities. J. Med. Genet. 1983;20:216–219. doi: 10.1136/jmg.20.3.216. - DOI - PMC - PubMed
    1. Sendur S.N., Oguz S., Utine G.E., Dagdelen S., Oguz K.K., Erbas T., Alikasifoglu M. A Case of Woodhouse-Sakati Syndrome with Pituitary Iron Deposition, Cardiac and Intestinal Anomalies, with a Novel Mutation in DCAF17. Eur. J. Med. Genet. 2019;62:103687. doi: 10.1016/j.ejmg.2019.103687. - DOI - PubMed
    1. Ali R., Al-Dewik N., Mohammed S., Elfituri M., Agouba S., Musa S., Mahmoud L., Almulla M., El-Akouri K., Mohd H., et al. Expanding on the Phenotypic Spectrum of Woodhouse-Sakati Syndrome Due to Founder Pathogenic Variant in DCAF17: Report of 58 Additional Patients from Qatar and Literature Review. Am. J. Med. Genet. A. 2022;188:116–129. doi: 10.1002/ajmg.a.62501. - DOI - PubMed
    1. Bohlega S., Abusrair A.H., Al-Ajlan F.S., Alharbi N., Al-Semari A., Bohlega B., Abualsaud D., Alkuraya F. Patterns of Neurological Manifestations in Woodhouse-Sakati Syndrome. Park. Relat. Disord. 2019;69:99–103. doi: 10.1016/j.parkreldis.2019.10.007. - DOI - PubMed
    1. Bastaki L., Al-Wadaani A., Gouda S., Al-Aboud H., Elshafey A. Woodhouse–Sakati Syndrome in Six Kuwaiti Families. Middle East J. Med. Genet. 2013;2:39–44. doi: 10.1097/01.MXE.0000430774.84009.80. - DOI

Publication types