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Emily L. Germain-Lee, M.D.
Albright Clinic at Kennedy Krieger
801 N. Broadway, Room 583
Kennedy Krieger Institute
Baltimore, MD 21205
 
Office: 443-923-2703
Fax: 443-923-2705
germainlee@kennedykrieger.org
egermain@jhmi.edu

Albright Hereditary Osteodystrophy

At the Albright Clinic at the Kennedy Krieger Institute, Dr. Emily Germain-Lee follows one of the largest populations of patients with Albright hereditary osteodystrophy worldwide. Albright hereditary osteodystrophy (AHO) is a rare genetic condition characterized by short stature, obesity, bone and tooth abnormalities, and developmental problems. It contains two sub-types: pseudohypoparathyroidism type 1a characterized by resistance to certain hormones and pseudopseudohypoparathyroidism without hormonal resistance. Dr. Germain-Lee's research focuses on improving the overall health and quality of life of patients with AHO by developing new treatment methods. Since recognition of this condition in the mid-1900's, medical treatment of pseudohypoparathyroidism has focused primarily on maintenance of normal chemistry and hormonal values. However, these therapeutic interventions do not address the problems of short stature, obesity, and hyperlipidemia, which are sources of considerable morbidity and personal distress for many patients with this disorder.

A major area of focus of Dr. Germain-Lee's research has been to investigate whether the causes of these clinical problems could be related to growth hormone deficiency. She has found that growth hormone deficiency occurs in approximately two-thirds of patients with pseudohypoparathyroidism type 1a. For the past several years, Dr. Germain-Lee has been conducting clinical trials in those patients with growth hormone deficiency to see whether growth hormone treatment can improve height in children and improve other physical and psychological effects of growth hormone deficiency in patients of all ages, such as obesity, elevated lipid levels, osteoporosis, fatigue, and reduced energy. The preliminary results of this trial are promising and provide the opportunity to improve the routine standard of care in patients with AHO. The trial is being expanded to include children with AHO who are not growth hormone deficient in order to evaluate whether an increase in height can occur in this group as well. Further studies in children will also focus on therapies involving growth hormone combined with other agents which can augment the beneficial effects on height.

In addition to these clinical studies, Dr. Germain-Lee's laboratory is currently using a mouse model of AHO to understand more fully the etiology of the various clinical problems in this condition. These mice have the same genetic defect and the same problems as the patients. Through use of this mouse model, her laboratory is able to study many of the problems that occur in AHO such as the obesity, short stature, skeletal defects, tooth abnormalities, and bony deposits under the skin, all which cause significant morbidity and distress. Dr. Germain-Lee's goal is that the investigations utilizing the mouse model will provide insights into AHO which will lead to additional new treatments for this condition.

By combining scientific investigations in the laboratory with the clinical research studies, Dr. Germain-Lee has the unique opportunity to translate scientific knowledge into therapeutic applications for patients with AHO in order to improve their overall health and quality of life.


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