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CONTEXT Treatment of GH-deficient adolescents in transition to adulthood remains challenging. OBJECTIVE The objective was to assess the safety and efficacy of GH in GH-deficient adolescents in transition. PATIENTS Fifty-eight GH-deficient adolescents (mean age, 15.8 +/- 1.8 yr; 33 males) at near completion of their linear growth participated in the(More)
Basic and translational research achievements over the past 2 decades have disclosed the molecular mechanisms underlying several genetic forms of hypopituitarism. Disorders that are limited to the hypothalamic, pituitary, GH axis are caused by mutations in individual components of that axis. Disorders involving GH and one or more additional pituitary(More)
OBJECTIVES 1) To determine the extent of short stature in patients with Fanconi anemia (FA); 2) to determine the extent and nature of endocrinopathy in FA; 3) to assess the impact on height of any endocrinopathies in these patients; and 4) to study the correlation, if any, between height, endocrinopathy, and FA complementation group. STUDY DESIGN(More)
Linear growth in humans and other vertebrate organisms is highly dependent on growth hormone (GH), a polypeptide hormone produced by the somatotropes of the anterior pituitary gland. While the primary action of GH is to stimulate skeletal and visceral growth, it has important metabolic actions as well. It is an anabolic hormone that increases cellular amino(More)
OBJECTIVE Our objective was to describe the first case of the successful use of pegvisomant during pregnancy in a woman with acromegaly. DESIGN We present the case of a 26-yr-old female with acromegaly who had failed surgical and subsequent medical therapy but whose disease was well controlled on pegvisomant. She then conceived and was continued on(More)
1Laboratory of Human Behavior and Metabolism, The Rockefeller University, New York, New York 10021, USA 2Department of Pediatrics, Division of Pediatric Endocrinology, The New York Hospital--Cornell University Medical College, New York, New York 10021, USA 3Departments of Genetics, Pathology and Internal Medicine, and Center for Genetics in Medicine,(More)
Familial isolated GH deficiency type II is an autosomal dominant form of short stature, associated in some families with mutations that result in missplicing to produce del32-71-GH, a protein that cannot fold normally. The mechanism by which this mutant suppresses the secretion of wild-type GH encoded by the normal allele is not known. Coexpression of(More)
Patients with rare and complex diseases such as congenital adrenal hyperplasia (CAH) often receive fragmented and inadequate care unless efforts are coordinated among providers. Translating the concepts of the medical home and comprehensive health care for individuals with CAH offers many benefits for the affected individuals and their families. This(More)
CONTEXT GH deficiency (GHD) is associated with low bone mineral density (BMD). Risk factors for lower BMD in this GHD population have not been fully elucidated. In particular, there are limited published data in GH-naïve subjects. OBJECTIVE The objective of the study was to identify endocrine correlates of low BMD in treatment-naïve adult GHD subjects. (More)