ISSN 1662-4009 (online)

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Yearbook of Paediatric Endocrinology 2019

8. Adrenals

New Hope

ey0016.8-13 | New Hope | ESPEYB16

8.13. GnRH antagonist treatment of malignant adrenocortical tumors

M Doroszko , M Chrusciel , J Stelmaszewska , T Slezak , S Anisimowicz , U Plockinger , M Quinkler , M Bonomi , S Wolczynski , I Huhtaniemi , J Toppari , NA Rahman

To read the full abstract: Endocr Relat Cancer. 2019; 26(1): 103–117.Incidence of adrenocortical carcinomas shows a bimodal distribution, being more common in children <10 years and in adults aged 40–50 years. Their prognosis is poor, with only 10–25% 5-year survival. Ectopic expression of LHCGR and GNRHR has been reported in ACTH-independent adrenal hyperplasia ...

ey0016.8-14 | New Hope | ESPEYB16

8.14. A report on state-wide implementation of newborn screening for X-linked adrenoleukodystrophy

K Wiens , SA Berry , H Choi , A Gaviglio , A Gupta , A Hietala , D Kenney-Jung , T Lund , W Miller , EI Pierpont , G Raymond , H Winslow , HA Zierhut , PJ Orchard

To read the full abstract: Am J Med Genet A. 2019; 179(7):1205–1213.X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder, with an estimated incidence in the USA of ~1:17,000 all births (male and female) and 1:21,000 male births. X-ALD is caused by mutations in the X chromosome gene ABCD1, which encodes the peroxisomal membrane protein, ATP-bin...