Michael P. Wajnrajch

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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)
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)
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)
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)
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)
BACKGROUND Recently, growth hormone (GH) therapy for children with short stature born small for gestational age (SGA) has been approved in the USA and Europe. There have been few reports examining adverse events during GH treatment of these children. AIMS (i) To examine glucose tolerance and insulin sensitivity during GH treatment of children born SGA in(More)
CONTEXT G to A transition at position 6,664 (G6664A) in human GH-1 results in the substitution of arginine by histidine at position 183 (R183H) of the GH molecule and causes familial isolated GH deficiency type II (IGHD II). OBJECTIVES The objective of the study was to assess the phenotype-genotype correlation of subjects affected with IGHD II caused by a(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)