By I.A. Hughes, A.J.L. Clark, P.-E. Mullis
Adrenal sickness in young ones poses an immensely tricky 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 problems to supply a conveniently obtainable textual content that mixes a close description of the molecular origins of those illnesses, as they're at present understood, with a special account of the medical beneficial properties and healing techniques. starting with problems that basically have an effect on adrenal improvement and progressing in the direction of the defects that intervene with steroid creation, the reader profits massive perception into the traditional body structure of the adrenal cortex really as published through medical issues. the most important contributions of recent biochemistry and molecular genetics in our present realizing are obvious all through, offering a distinct assessment of adrenocortical biology.
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Additional resources for Adrenal disease in childhood: clinical and molecular aspects (Endocrine Development Vol. 2)
Genomics 1993;16:407–416. Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ER, Fraccaro M, Zuffardi O, Camerino G: A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 1994;7:497–501. Zazopoulos E, Lalli E, Stocco DM, Sassone-Corsi P: DNA binding and transcriptional repression by DAX-1 blocks steroidogenesis. Nature 1997;390:311–315. Ito M, Yu R, Jameson JL: DAX-1 inhibits SF-1-mediated transactivation via a carboxy-terminal domain that is deleted in adrenal hypoplasia congenita.
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. In other cases children may present after several years of age with a severe infective illness, hypoglycaemia or pigmentation. Occasionally, children may become severely ill with overwhelming infection, sometimes accompanied by hypoglycaemia.
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. uk Swords/Franklin/Huebner/Elias/Clark 36 Hughes IA, Clark AJL (eds): Adrenal Disease in Childhood.
Adrenal disease in childhood: clinical and molecular aspects (Endocrine Development Vol. 2) by I.A. Hughes, A.J.L. Clark, P.-E. Mullis