Growth Hormone Deficiency: Extending the Phenotypic Spectrum of SALL4-Related Disorders
نویسندگان
چکیده
منابع مشابه
Pituitary Disorders Pediatric Growth Hormone Deficiency
Optimal therapy of growth disorders depends on accurate diagnosis and clear goals for therapy. Understanding normal patterns of growth hormone (GH) and insulin-like growth factor secretion are necessary to appreciate the different hormone pattern induced by therapy. Finally, monitoring efficacy and safety, identifying interfering factors, and adjusting doses, are all part of optimizing GH thera...
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GH deficiency (GHD) can manifest in childhood as growth failure, delayed bone age and slow growth velocity, while in adults the picture is more complex and is characterised by negative effects on body composition, cardiovascular functions and poor quality of life. Life expectancy is reduced in adult patients with GHD as a consequence of cardiovascular and cerebrovascular events. Most, if not al...
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We read with interest the article by Vantroys et al. about two unrelated pediatric patients with FARS2-deficiency [1]. We have the following comments and concerns. Insomnia is a rare manifestation of a mitochondrial disorder(MID). Only in a study of 20 CPEO patients, 75% reported sleep dysfunction [2]. Did patient-2 take drugs that could explain sleeplessness? What were the results on polysomno...
متن کاملAdult Growth Hormone Deficiency
Adult growth hormone deficiency (AGHD) is an heterogeneous clinical entity characterized by increased cardiovascular morbidity and mortality, alterations in body composition, osteoporosis and impaired quality of life. In order to characterize higher risk subpopulations we studied 77 patients with AGHD, 35 with childhood onset (AGHD-CO): CA 18-44 yr.; 13 females and 22 males, and 42 with adult o...
متن کاملAdult growth hormone deficiency.
Growth hormone (GH) has an important physiological role in adulthood.1–3 Before the 1980s anecdotal reports suggested that patients lacking GH experienced symptoms of increased fatigue and low mood, features that improved with GH replacement.4 Long-term replacement was not considered because of the lack of availability of cadaveric GH. With the development of recombinant GH in the mid-1980s, in...
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ژورنال
عنوان ژورنال: Journal of the Endocrine Society
سال: 2021
ISSN: 2472-1972
DOI: 10.1210/jendso/bvab048.1426