By Ora H. Pescovitz MD, Erica A. Eugster MD
Written by way of amazing gurus, this quantity is a complete textual content at the mechanisms, prognosis, and administration of pediatric endocrine problems. It offers unheard of assurance of present medical thoughts and state of the art, useful medical information.
The commencing sections learn genetic points of endocrinology and diagnostic exams, together with imaging and molecular ideas. next sections disguise the hypothalamus and pituitary, progress, sexual differentiation and maturation, glucose homeostasis, the thyroid, the adrenal glands, bone and mineral metabolism, abnormalities of food, and multi-endocrine illnesses. each one part progresses from molecular genetics and developmental endocrinology to express medical issues and administration ideas. a variety of illustrations spotlight key concepts.
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Additional resources for Pediatric Endocrinology: Mechanisms, Manifestations, and Management
Sample text
Approximately 50% of patients have a 45,X karyotype; the remainder have mosaic karyotypes (99,100). Because TS patients have only one copy of the X chromosome, they have haploinsufficiency of the genes in the pseudoautosomal region of the X chromosome (which are not inactivated during lyonization). It is thought that one of these genes, SHOX, contributes significantly to the short stature and to some of the skeletal features that are sometimes seen in TS (see SHOX). Klinefelter Syndrome (47,XXY) Klinefelter syndrome is caused by nondisjunction of the X chromosome, either during meiosis (gamete formation) or during mitosis after the zygote has formed.
The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. Hum Mol Genet 2001;10:30833091. 42. Rao E, Weiss B, Fukami M, et al. Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997;16:54-63. 43. Clement-Jones M, Schiller S, Rao E, et al. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 2000;9:695-702.
Myers SE, Carrel AL, Whitman BY, et al. Sustained benefit after 2 years of growth hormone on body composition, fat utilization, physical strength and agility, and growth in PraderWilli syndrome. J Pediatr 2000;137:42-49. 98. Carrel AL, Myers SE, Whitman BY, et al. Benefits of long-term GH therapy in Prader-Willi syndrome: a 4-year study. J Clin Endocrinol Metab 2002;87:1581-1585. 99. Ranke MB, Saenger P. Turner's syndrome. Lancet 2001;358:309314. 100. Chu CE, Connor JM. Molecular biology of Turner's syndrome.