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

ISBN-10: 3805570155

ISBN-13: 9783805570152

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 could found in this manner. This quantity brings jointly the services of the said leaders in particular adrenal problems to supply a effortlessly obtainable textual content that mixes a close description of the molecular origins of those illnesses, as they're presently understood, with a special account of the medical good points and healing suggestions. starting with problems that basically impact adrenal improvement and progressing in the direction of the defects that intervene with steroid creation, the reader profits substantial perception into the conventional body structure of the adrenal cortex relatively as published by means of scientific issues. the foremost contributions of recent biochemistry and molecular genetics in our present realizing are noticeable all through, offering a distinct review of adrenocortical biology.

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

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Merke DP, Tajima T, Baron J, Cutler GB Jr: Hypogonadotropic hypogonadism in a female caused by an X-linked recessive mutation in the DAX1 gene. N Engl J Med 1999;340:1248–1252. Hanley NA, Hagan DM, Clement-Jones M, Ball SG, Strachan T, Salas-Corte´s L, McElreavey K, Lindsay S, Robson S, Bullen P, Ostrer H, Wilson DI: SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development. Mech Dev 2000;91:403–407. Guo W, Burris TP, McCabe ER: Expression of DAX-1, the gene responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism, in the hypothalamic-pituitary-adrenal/ gonadal axis.

J Clin Endocrinol Metab 1999;84:3563–3569. Seminara SB, Achermann JC, Genel M, Jameson JL, Crowley WFJ: X-linked adrenal hypoplasia congenita: A mutation in DAX1 expands the phenotypic spectrum in males and females. J Clin Endocrinol Metab 1999;84:4501–4509. Schwartz M, Blichfeldt S, Mu¨ller J: X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N4401) in the DAX-1 gene: Implication for genetic counselling and carrier diagnosis. Hum Genet 1997;99:83–87. Abe S, Nakae J, Yasoshima K, Tajima T, Shinohara N, Murashita M, Satoh K, Koike A, Takahashi Y, Fujieda K: Novel missense mutation (Leu466Arg) of the DAX1 gene in a patient with X-linked congenital adrenal hypoplasia.

Clark AJL, McLoughlin L, Grossman A: Familial glucocorticoid deficiency caused by a point mutation in the ACTH receptor. Lancet 1993;341:461–462. Tsigos C, Arai K, Hung W, Chrousos GP: Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene. J Clin Invest 1993;92:2458–2461. Weber A, Toppari J, Harvey RD, Klann RC, Shaw NJ, Ricker AT, Nanto-Salonen, Bevan JS, Clark AJL: Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: Relationships with clinical features in four families.

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Adrenal disease in childhood: clinical and molecular aspects (Endocrine Development Vol. 2) by I.A. Hughes, A.J.L. Clark, P.-E. Mullis


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