Clinical, Endocrine, and Reproductive Profiles of Patients with Primary Ovarian Insufficiency at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia: A Retrospective Analysis

Background: Primary ovarian insufficiency (POI) is a condition causing hypergonadotropic hypogonadism before age 40, leading to menstrual irregularities, infertility, and estrogen deficiency. This study aimed to describe the clinical, endocrine, and reproductive characteristics of patients diagnosed with primary ovarian insufficiency (POI). and describe the distribution of these clinical and biochemical characteristics. Methods: This hospital-based retrospective study was conducted at King Faisal Specialized Hospital and Research Center (KFSHRC) in Riyadh, Saudi Arabia. Medical records of patients diagnosed with POI between 2008 and 2018 were reviewed and analyzed. Results: The onset of POI occurred before 20 years of age in 64.1% of patients. The most common presenting symptoms included infertility (50%), menstrual disturbances (42.2%), delayed puberty (25%), and estrogen deficiency (25%). More than half of the patients were overweight or obese (29.7% each). A family history of POI was reported in 12.5% of cases. Autoimmune diseases were present in 60.9% of patients, while dyslipidemia (25%), and psychiatric disorders (14.1%) were also common. A history of abdominal/pelvic surgery (25%), chemotherapy (28.1%), and radiotherapy (7.8%) was noted. Pelvic ultrasonography revealed that 18.5% of patients had normal findings, while 23/54 (42.6%) had gonadal dysgenesis/agenesis, and 16/54 (29.6%) had uterine abnormalities. Vitamin D deficiency was present in 25/35 (71.4%) of patients, while 3/35 (17.1%) had vitamin D insufficiency, and 3/35 (8.6%) had hypervitaminosis D. Diabetes mellitus was observed in 6/60 (10%) of patients. Autoimmune markers were positive in a subset of patients: anti-thyroid peroxidase antibodies (15/64, 23.4%), anti-thyroglobulin antibodies (12/64, 18.8%), rheumatoid factor (6/64, 9.4%), and other autoimmune markers 3/64 (4.7%). Bone mineral density was low in 23/44 (52.3%) of patients, and 2/44 (4.5%) had delayed bone age. Karyotype analysis identified Turner syndrome in 6/44 (13.6%) of patients, while 38/44 (86.4%) had a normal 46 XX karyotype. Molecular genetic testing for Fragile X syndrome identified one patient with a single gene mutation (1.6%) and one premutation carrier (1.6%). Conclusions: In this cohort, POI was commonly diagnosed before age 20 and was associated with delayed puberty, estrogen deficiency, infertility, and menstrual disturbances. Autoimmune diseases, vitamin D deficiency, and low bone mineral density were also frequently observed. The available data do not support identifying a predominant underlying etiology.