NICHD’s MAS-related research is conducted through its Program on Developmental Endocrinology and Genetics, within the Division of Intramural Research.

Researchers investigate mechanisms that lead to MAS and associated disorders as well as treatments for them.

Topics include (but are not limited to) the following:

• Cellular patterns in the adrenal glands of patients with MAS
• Prognostic features of patients who have MAS and/or Cushing syndrome
• How the GNAS gene mutation affects the function and structure of thyroid cells
• The genetics and treatment of pituitary gland tumors in patients with MAS

Institute Activities and Advances

NICHD’s Program on Developmental Endocrinology and Genetics conducts research on MAS and Cushing syndrome. This program studies genetic changes that affect the body’s endocrine system. The investigators have diverse backgrounds that range from biochemistry to molecular endocrinology and genetics to clinical obesity research.

NICHD’s research on MAS includes, but is not limited to, the study of:

• The cellular features of patients with MAS and Cushing syndrome
• The association between MAS and pituitary gland tumors
• The evaluation of gastrointestinal polyps in MAS patients

Other Activities and Advances

NICHD also supports work related to MAS through the NICHD-NIDDK Interinstitute Endocrinology Training Program. This program seeks to train internal medicine physicians to become first-rate endocrinologists who seek investigative careers. This group’s research has explored:

• The effect MAS has on the structure of thyroid cells
• The prognostic features of patients with MAS and Cushing syndrome, as well as long-term follow-up treatment options