IMPE Abstracts

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In recent years, technological advances have widened the diagnostic and therapeutic possibilities in Differences of Sex Development (DSD). In parallel, societal and ethical values have changed in a way that several aspects of traditional DSD care have been vigorously questioned. In answer to this (r)evolution, new management models, based on transparency, psychosocial support and patient autonomy have emerged, and teams have expanded in order to provide qualitative individuali...

In this talk I will describe several effects of Growth Hormone (GH) on mammalian growth and aging. Much of the data is derived from two dwarf and one giant strain of mice produced in our laboratory that possess very different degrees of healthy/unhealthy aging. One of the dwarf lines contains a disruption of the GH receptor and binding protein gene (GHR/BP) [PNAS, 94:13215-13220, 1997]. Homozygous GHR/B P"knockout" mice (GHR-/-) show severe postnatal growth ...

Growth is promoted by direct actions of GH on the growth plate and via the actions of GH-stimulated IGF-I production. There are 6 IGF-binding proteins (IGFBPs) that are differentially expressed in tissues and that bind the IGFs. In the circulation, after binding to IGF, IGFBP-3, and -5 also bind with the IGF acid labile subunit (ALS) to form a ternary complex, which increases the half-life of IGF-I. IGF must be liberated from this complex as it is free IGF-I (fIGF-I) that bind...

Children with syndromic growth disorders represent a significant proportion of patients referred for pediatric or genetic evaluation. The correct diagnosis has important implications for genetic counseling, treatment, and follow-up. The clinical diagnosis of these patients is challenging because there are almost 1200 genetic syndromes in which short stature is one of the cardinal features. Each of these disorders presents distinctive clinical, laboratory, and radiologic charac...

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