Evaluation and Management of Primary Ovarian Insufficiency in Adolescents and Young Adults.

Study Objective: To identify clinical features associated with primary ovarian insufficiency (POI) and collect data on the evaluation and treatment received.

Design: Retrospective chart review. Data were abstracted on etiology of POI, history, laboratory evaluation, imaging results, return for clinical care, and treatment plans.

Setting: Urban children's hospital in Cincinnati, Ohio.

Participants: Fifty female patients, age 11-26 years, with initial presentation of POI between January 1, 2006 and December 31, 2015.

Main Outcome Measures: Etiology of POI, bone mineral density (BMD), laboratory evaluation, and services utilized at presentation.

Results: Three hundred thirty-one charts were reviewed, 71 with confirmed diagnosis of POI, and 50 with sufficient data for inclusion. Among the 50, 21 (42%) had Turner syndrome, 18 (36%) remained idiopathic, and 11 (22%) had another condition (eg, autoimmune polyglandular syndrome, galactosemia, etc). Thirty-six (72%) were karyotyped; in 14 (28%), 21-hydroxylase antibodies were measured; 32 (64%) underwent dual-energy x-ray absorptiometry BMD measures of lumbar spine. Eight of 50 patients (16%) reported fracture. Of these, at presentation, 4 (50%) had low BMD, and 2 (25%) had slightly low BMD. On initial spinal dual-energy x-ray absorptiometry, 9 of 32 (28%) had low BMD (Z-score ≤ -2.0) and 7 of 32 (22%) were slightly low (-1.0 to -1.9). All started estrogen therapy within 2 years of presentation. In follow-up, only 2 patients (4%) saw a mental health consultant for emotional support.

Conclusion: POI is a model of estrogen deficiency with most cases due to Turner syndrome or idiopathic causes. At presentation, many had low BMD and few were seen for psychological support as part of multidisciplinary care.