Characterizing the Adolescent Premature Ovarian Insufficiency Phenotype: A Case Control Study.

STUDY OBJECTIVES: To characterize the skeletal, cardiometabolic, cognitive, and mental health phenotype of adolescents with idiopathic premature ovarian insufficiency (POI) DESIGN: Case control SETTING: Pediatric tertiary referral center in Cincinnati, Ohio PARTICIPANTS: Nine adolescents (ages 11-18.99 years) with newly diagnosed POI and 9 normally menstruating controls, matched by age and body mass index MAIN OUTCOME MEASURES: Between-group comparisons of bone characteristics assessed by dual energy x-ray absorptiometry (DXA) and peripheral quantitative computed tomography (pQCT), psychosocial health (anxiety, depression, and quality of life), and cognition and memory by questionnaire RESULTS: Adolescents with POI had lower bone density Z-scores by DXA (lumbar spine -1.93 vs 0.80; whole body less head -2.05 vs 0.00; total hip -1.03 vs 0.83; and femoral neck -1.23 vs 0.91; all P < .001), as well as lower trabecular volumetric bone mineral density (tibia 3% site 226 vs 288 mg/mm3, P < .001; radius 3% site 200 vs 251, P = .001), smaller cortical area (tibia 66% site 251 vs 292 mm2, P = .028), and thickness (tibia 66% site 3.56 vs 4.30 mm, P = .001) than controls. No abnormalities in cardiometabolic biomarkers were detected in POI cases. Adolescents with POI were also more likely to report low energy (78% vs 22%, P = .02). CONCLUSION: Estrogen deficiency adversely affects bone health in adolescents with POI. However, we did not find associations with cardiometabolic, mental health, or cognitive outcomes in this small sample.

Low bone mineral density and fractures are highly prevalent in pediatric patients with spinal muscular atrophy regardless of disease severity.

Patients with Spinal Muscular Atrophy (SMA) are at risk for poor bone health. The prevalence of fractures, low areal bone mineral density (aBMD; Z-score ≤-2.0) of the lateral distal femur and of osteoporosis by SMA subtype is not known. We aimed to describe the natural history of bone health in patients with SMA prior to bisphosphonate treatment. We reviewed data from 85 eligible patients with SMA ages 12 months to 18 years, seen at a single institution between January 2005 and July 2016. Fracture history was reported at annual clinic visits. aBMD was obtained from dual energy x-ray absorptiometry scans of the lumbar spine, total body, and lateral distal femur. 85% of patients had aBMD Z-scores ≤-2.0 SD and were progressively lower with worsening SMA severity. Longitudinal aBMD Z-scores of the lateral distal femur decreased with age. Fractures occurred in 38% (32/85) of patients with the femur being the most common location (25 of 57 fractures). Thirteen percent of patients fulfilled criteria for osteoporosis. Low aBMD and femur fractures are highly prevalent in all SMA subtypes from a young age; however, few patients met the criteria for osteoporosis. Poor bone health may be an under-recognized comorbidity of SMA.