Adrenal disease in childhood: clinical and molecular aspects by I.A. Hughes, A.J.L. Clark, P.-E. Mullis

By I.A. Hughes, A.J.L. Clark, P.-E. Mullis

Adrenal disorder in childrens poses an immensely tough diagnostic and administration challenge for the paediatrician in view of the massive variety of infrequent pathologies that can found in this fashion. This quantity brings jointly the services of the stated leaders in particular adrenal issues to supply a effortlessly obtainable textual content that mixes an in depth description of the molecular origins of those illnesses, as they're at present understood, with a distinct account of the medical gains and healing innovations. starting with problems that essentially impact adrenal improvement and progressing in the direction of the defects that intrude with steroid construction, the reader profits enormous perception into the conventional body structure of the adrenal cortex really as published through medical problems. the main contributions of contemporary biochemistry and molecular genetics in our present realizing are seen all through, offering a different evaluate of adrenocortical biology.

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Extra info for Adrenal disease in childhood: clinical and molecular aspects (Endocrine Development Vol. 2)

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Clinical Presentation The initial diagnosis of ACTH resistance may occur in infancy or later. In general, cases presenting in infancy will often have had a history of neonatal hypoglycaemia followed after several months by the observation that the child is excessively pigmented. Occasionally, pigmentation is commented on shortly after birth. Neonatal jaundice may also be an early feature indicative in these cases of glucocorticoid deficiency. Often, an excessively severe response to comparatively minor infective illnesses will result in the investigations that establish the diagnosis.

Weber A, De Vroede M, Wienker TF, Jansen M: Clinical variability and molecular genetics in a family with triple A syndrome. Horm Res 1997;48(S2):191. Robbins LS, Nadeau JH, Johnson KR, Kelly MA, Roselli-Rehfuss L, Baack E, Mountjoy KG, Cone RD: Pigmentation phenotypes of variant extension locus alleles result from point mutations that alter MSH receptor function. Cell 1993;72:827–834. Light K, Jenkins PJ, Weber A, Perrett C, Grossman A, Boscaro M, Asa SL, Clayton RN, Clark AJL: Are activating mutations of the ACTH receptor involved in adrenal cortical neoplasia?

L. Clark Molecular Endocrinology Laboratory, Departments of Endocrinology, St Bartholomew’s and the Royal London School of Medicine and Dentistry, London, UK Normal Action of ACTH Adrenocorticotropin (ACTH) is a 39 residue peptide secreted by the corticotroph cells of the anterior pituitary. It is synthesised as part of a larger precursor peptide, pro-opiomelanocortin, which also encodes -MSH and -endorphin. ACTH normally circulates at concentrations of =5 – 80 pg/ml, and its primary site of action is the ACTH receptor (ACTH-R).

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