Predictors of Bone Health in Adolescents and Young Adults

The major aim of our lab is to understand factors that, during adolescence, impact bone density and skeletal strength during the adult years. We are examining how modifiable factors such as nutrition and physical activity influence the development of peak bone mass, as well as variables such as skin pigmentation and an individual’s genotype, which are determined at birth. In both healthy youth and those with chronic disease, we are exploring the interrelationship between body composition, circulating hormones, and bone marrow adiposity and its effect on bone turnover and skeletal accrual.

A focus of our research is how physical and emotional health are compromised in adolescents and young women with premature ovarian insufficiency (POI). POI presents along a broad clinical spectrum. We are interested in both the presentation and causes of POI, including those seen in childhood cancer survivors, and ovarian dysfunction resulting from autoimmune, metabolic, genetic/syndromic, and idiopathic (unknown) causes. We are conducting a natural history study to characterize numerous health outcomes and are launching a clinical trial to identify the optimal estrogen replacement regimen for adolescents and young women with this diagnosis. We are also employing novel tools to provide state-of-the-art assessments of bone density, body composition, and skeletal strength.

In addition, we are interested in understanding the role of androgens in bone development by investigating the skeletal phenotype of patients with the androgen insensitivity syndrome (AIS) by obtaining assessments in a natural history study of these patients, in collaboration with Veronica Gomez-Lobo.

Our lab is also interested in the skeletal phenotype associated with rare genetic diagnoses, some of which resemble or meet criteria for a skeletal dysplasia. Examples include progeria (Hutchinson-Gilford progeria syndrome), Ollier disease, and Maffucci syndrome. Ollier disease and Maffucci syndrome are disorders associated with skeletal abnormalities and enchondromas, which are benign tumors of cartilage that usually develop in the metaphyseal regions of bone. Currently, the only treatment for these patients involves surgical removal of oversized enchondromas. In collaboration with Nara Sobreira, we are conducting a natural history study to examine the skeletal phenotype and genetic background of children with Ollier disease and Maffucci syndrome so as to understand the molecular mechanisms underlying their disease.

We are also conducting studies to understand the relationship between bone mineral density (BMD), skin pigmentation, and underlying genetic factors with the aim of moving away from race/ethnicity in the interpretation of BMD.