Genetic Diagnosis of Growth Failure

Sep 7, 2019 by in ENDOCRINOLOGY Comments Off on Genetic Diagnosis of Growth Failure

Abstract Growth hormone (GH) insensitivity can result from molecular defects at multiple levels, including the genes for the GH receptor ( GHR ), signal transducer and activator of transcription (…

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Setting Up a Laboratory

Sep 7, 2019 by in ENDOCRINOLOGY Comments Off on Setting Up a Laboratory

Abstract Whole genome sequencing is not at present cost-effective in most settings. But today‚Äôs molecular genetic laboratory can effectively sequence panels of several hundred genes, and even entire exomes without…

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Genetic Counseling: The Role of Genetic Counselors on Healthcare Provider and Endocrinology Teams

Sep 7, 2019 by in ENDOCRINOLOGY Comments Off on Genetic Counseling: The Role of Genetic Counselors on Healthcare Provider and Endocrinology Teams

Abstract This chapter addresses the role of genetic counseling in the diagnosis of hereditary syndromes, particularly hereditary endocrine diseases. Genetic counseling is a communication process that encompasses risk assessment, informed…

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Multiple Endocrine Neoplasia Type 1 (MEN1)

Sep 7, 2019 by in ENDOCRINOLOGY Comments Off on Multiple Endocrine Neoplasia Type 1 (MEN1)

Abstract Multiple endocrine neoplasia type 1 is an autosomal dominantly inherited syndrome. MEN1 is characterized by the occurrence of tumors of the parathyroid glands, the pancreatic islets, the anterior pituitary…

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Genetics of Polyglandular Failure

Sep 7, 2019 by in ENDOCRINOLOGY Comments Off on Genetics of Polyglandular Failure

Abstract The rare autoimmune polyglandular failure syndromes (APS) comprise a juvenile (APS1) and an adult type (APS2 and 3). APS1 is caused by mutations in the autoimmune regulatory ( AIRE…

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Lipodystrophies

Sep 7, 2019 by in ENDOCRINOLOGY Comments Off on Lipodystrophies

Abstract In the last two decades, great progress has been made in refining the classification and elucidating the molecular basis of genetic lipodystrophies, rare disorders characterized by selective loss of…

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Obesity

Sep 7, 2019 by in ENDOCRINOLOGY Comments Off on Obesity

Abstract Obesity, defined as an excess fat mass, results from individual genetic and biological susceptibilities in response to the current weight-gain promoting environment. There is thus a synergistic relationship between…

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