By I.A. Hughes, A.J.L. Clark, P.-E. Mullis
Adrenal illness in youngsters poses an immensely tough diagnostic and administration challenge for the paediatrician in view of the big variety of infrequent pathologies which can found in this fashion. This quantity brings jointly the services of the stated leaders in particular adrenal issues to supply a without problems available textual content that mixes an in depth description of the molecular origins of those illnesses, as they're at present understood, with a special account of the medical positive factors and healing concepts. starting with issues that essentially impact adrenal improvement and progressing in the direction of the defects that intrude with steroid construction, the reader profits significant perception into the conventional body structure of the adrenal cortex really as published via scientific problems. the foremost contributions of contemporary biochemistry and molecular genetics in our present figuring out are noticeable all through, offering a special evaluate of adrenocortical biology.
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Extra resources for Adrenal disease in childhood: clinical and molecular aspects (Endocrine Development Vol. 2)
Clinical features of triple A syndrome Alacrima (absence of tears) Achalasia of the cardia – may extend into gastric atonia and more extensive gut hypotonia: present in #75% cases ACTH resistance – usually develops after birth and includes mineralocorticoid deficiency in 10% Neurological defects including Autonomic neuropathies – present in ~30% patients Sensorimotor peripheral neuropathies Clumsiness, ataxia, Parkinsonism, mental retardation, optic atrophy Hyperkeratosis of palms and soles – present in #20% patients Triple A Syndrome Clinical Features The features of this disorder are summarised in table 3 and have been reviewed in Clark and Weber .
J Clin Endocrinol Metab 1995;80:875–877. Hiroi N, Yakushiji F, Shimojo M, Watanabe S, Sugano S, Yamaguchi N, Miyachi Y: Human ACTH hypersensitivity syndrome associated with abnormalities of the ACTH receptor gene. Clin Endocrinol 1998;48:129–134. Clark AJL: Receptor hypersensitivity: A new phenomenon? Clin Endocrinol 1998;48:135–136. L. Clark, DSc, FRCP, Molecular Endocrinology Laboratory, Departments of Endocrinology, St Bartholomew’s and the Royal London School of Medicine and Dentistry, West Smithfield, London EC1A 7BE (UK) Tel.
These pathways are summarised in figure 1. Recent work also implicates an additional very rapid role of ACTH in inhibiting guanyl cyclase which in turn inhibits phosphodiesterase type 2 in adrenal glomerulosa cells. This leads to a transient increase in cAMP. As cAMP accumulates, however, this will stimulate this phosphodiesterase which then counteracts the cAMP-generating action of adenylate cyclase . The exact actions resulting from these immediate intracellular signalling events are not well understood.