Harvard Catalyst Profiles

Differences of sex development (also called intersex conditions) are conditions in which an underlying hormonal issue results in atypical development of the genitals. We are conducting a study to identify genetic causes of DSD as well as to assess the impact of receiving genetic testing results on families. Student role may include: analysis of genetic data, retrospective chart review focusing on a specific DSD condition, gaining experience in clinical research (e.g., assisting with recruitment, obtaining consent, and coordinating sample collection). The student will be expected to provide regular updates on progress and to attend a weekly group meeting (schedule permitting). Students of any level and any time availability are invited. Students should have familiarity with human genetics. For analysis of genetic data, programming skills will be helpful. The project PI typically meets with students weekly or biweekly and will also be available by email, and other members of the research team will also be available for assistance.

The Boston Children's Hospital Gender Multidisciplinary Service (GeMS) provides multiple services to transgender and nonbinary youth, including hormonal treatments. Treatment with puberty blockers (GnRH analogs) can be used to halt the development of secondary sex characteristics that may be discordant with a patient's identified gender, and treatment with gender-affirming hormones (estradiol, testosterone) can be used to induce secondary sex characteristics concordant with identified gender. Boston Children's Hospital is part of a 4-site consortium (with Children's Hospital Los Angeles, University of California San Francisco, and Lurie Children's Hospital in Chicago) conducting a longitudinal, observational study of physiological and psychosocial outcomes of these treatments.

What causes puberty to start? Why does it happen at different ages for different children? We are addressing these questions by studying children with delayed puberty using several approaches: --Analysis of clinical data (captured in a research database) to define the clinical characteristics of children with delayed puberty and to identify potential phenotypic subgroups. --In-person research visits with adults who had delayed puberty to study the long-term consequences of delayed puberty. --Human genetic studies to identify both common and rare genetic variants that contribute to delayed puberty, with the broader goal of understanding how pubertal timing is determined in general. The time commitment is flexible.