SUN-243 Evaluation of Primary Ovarian Insufficiency in Adolescents Is a Challenge for Pediatric Providers

Abstract

Background Primary ovarian insufficiency (POI) is characterized by ovarian dysfunction resulting in premature cessation of menses. Excluding patients with gonadal dysgenesis, it is estimated that only 0.01% of adolescents will experience POI. After thorough evaluation, the underlying cause remains elusive in 85-90% of cases. Ovarian function in POI is variable, intermittent, and unpredictable. The lack of well-established criteria and low prevalence in adolescents make the diagnosis and management challenging. Methods Using diagnostic codes we identified all cases of ovarian insufficiency between 2012 and 2018 seen at a children’s hospital in South Florida. We reviewed all cases diagnosed with ovarian insufficiency and chose those meeting current adult diagnostic criteria for POI for further analysis. Patients with missing information, gonadal dysgenesis, eating disorders, gonadal surgeries and/or a history of oncological conditions, or exposure to gonado-toxic treatments, were excluded. We conducted chart reviews, and relevant clinical and diagnostic information was extracted. Results A total of 48 patients diagnosed with ovarian insufficiency were identified; only seven met inclusion criteria. Mean age of diagnosis was 15.5 and 15.2 years respectively for primary and secondary amenorrhea. Patients with POI were evaluated and treated by the pediatrician, endocrinologist, and/or adolescent medicine specialist. Anti-ovarian antibodies were evaluated in all cases, anti-thyroid antibodies in six of the patients, but only two patients were tested for the presence of anti-adrenal antibodies. Karyotype was obtained in all of them, while genetic evaluation of FMR1 gene was performed in two. Finally, only two patients received reproductive counseling or were referred to a fertility specialist. One of them was referred after she had a spontaneous pregnancy and voluntary interruption. Conclusions Anti-ovarian antibodies were always obtained despite their lack of clinical significance in POI. Anti-adrenal antibodies, which are a better diagnostic test, were not evaluated as often as expected. Genetic evaluation was mostly limited to karyotype. Evaluation for FMR-1 premutation may be helpful for the diagnosis and management of the patient, as well as other female relatives. Only two of the seven patients received reproductive counseling or were referred to reproductive medicine. This is a key part of the evaluation and management of POI, since an early and appropriate intervention may improve the chances of fertility preservation as well as promote reproductive health in the adolescent population. Better training in the evaluation and management of patients with POI is needed across pediatric providers that care for these patients.