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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 affliction in childrens poses an immensely tough diagnostic and administration challenge for the paediatrician in view of the massive variety of infrequent pathologies which may found in this manner. This quantity brings jointly the services of the said leaders in particular adrenal problems to supply a quite simply obtainable textual content that mixes an in depth description of the molecular origins of those ailments, as they're at the moment understood, with a distinct account of the medical positive aspects and healing techniques. starting with issues that basically have an effect on adrenal improvement and progressing in the direction of the defects that intervene with steroid creation, the reader earnings huge perception into the conventional body structure of the adrenal cortex fairly as printed by way of scientific issues. the most important contributions of contemporary biochemistry and molecular genetics in our present figuring out are noticeable all through, offering a distinct evaluate of adrenocortical biology.

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3-kD protein, SCP2, which is processed to yield a mature 13-kD polypeptide. Both SCPx and SCP2 have carboxy terminal peroxisome targeting sequences and both have been localized to peroxisomes, the sites of cholesterol biosynthesis [59–63]. The synthesis of SCP2 is under the regulation of ACTH in the adrenal; however, this regulation only occurred after chronic hormone stimulation [64]. Nevertheless, while stimulation of adrenal cells with ACTH had no acute effect on SCP2 levels in rat testicular Leydig cells, acute stimulation with LH appeared to result in a rapid redistribu- Stocco/Reinhart/Miller 40 tion of SCP2 within the cell from the cytosol to the mitochondria [65, 66].

ACTH receptor mutations have been identified by Defects of ACTH Action 33 several groups as one of the defects causing FGD, and functional analysis of the defects in this receptor is consistent with ACTH resistance. Other cases of FGD are the result of defects in another autosomal gene of unknown function and genomic location. The triple A syndrome also results from defects in an unidentified gene, although the genetic locus has been mapped to the long arm of chromosome 12. It is to be hoped that genetic analysis of affected families and candidate gene studies will eventually allow identification of the triple A syndrome gene.

J Pediatr 1998;133:300–302. Peter M, Viemann M, Partsch CJ, Sippell WG: Congenital adrenal hypoplasia: Clinical spectrum, experience with hormonal diagnosis and report on new point mutations of the DAX-1 gene. J Clin Endocrinol Metab 1998;83:2666–2674. Reutens AT, Achermann JC, Ito M, Ito M, Gu WX, Habiby RL, Donohoue PA, Pang S, Hindmarsh PC, Jameson JL: Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. J Clin Endocrinol Metab 1999;84:504–511.

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