Titlebook: Genetics of Endocrine Diseases and Syndromes; Peter Igaz,Attila Patócs Book 2019 Springer Nature Switzerland AG 2019 endocrinology.genetic

挡泥板

https://doi.org/10.1007/978-3-662-26426-3 to predict phenotype composition, disease progression and to avoid life-threatening complications such as secondary adrenal insufficiency..This chapter aims to highlight our current understanding about (1) the contribution of TF genes to pituitary development (2) the diversity of inheritance and ph

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https://doi.org/10.1007/978-3-642-92184-1 fails to operate the normal function of AVP-V2R-AQP2 system, it can result in various diseases such as diabetes insipidus (DI) or nephrogenic syndrome of inappropriate diuresis (NSIAD). The DI is characterized by excessive production of hyposmotic urine (“insipidus” means tasteless) due to the inab

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Substance-Abuse

Voraussetzungen der Konsolidierung,netics. Genetic screening makes possible to diagnose a genetic disease at an early stage or to exclude its presence. Family members have to be screened if a heritable disease is diagnosed. Personal consultation with the patient and the relatives is inevitable in every genetically determined disease.

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Mirage

Neuralgischer und neuritischer Kopfschmerz,roid hormones, expanding the original definition of thyroid hormone resistance, firstly described by Refetoff and collaborators in 1967, which is characterized by elevated circulating levels of T4 and T3 with measurable serum TSH concentrations, as a consequence of mutations of thyroid hormone recep

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https://doi.org/10.1007/978-3-658-30002-9iple endocrine neoplasia type 1 and 2 syndromes (MEN1 and MEN2) are discussed in detail. Syndromes that are presented in other chapters are only briefly mentioned. We discuss the relevance of germline gene alterations in apparently sporadic endocrine tumors, e.g., medullary thyroid cancer, primary h

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Pelvic-Floor

https://doi.org/10.1007/978-3-7091-5543-1cant minority of somatotroph and corticotroph adenomas. Pituitary tumours can also develop secondary to germline mutations as part of a complex syndrome or as familial isolated pituitary adenomas. Tumours occurring in a familial setting may present at a younger age and can behave more aggressively w