Cushing's syndrome secondary to ACTH-secreting Wilms'Tumor

Abstract

HLA and hormonal studies in families of patients with 21-hydroxylase deficiency -cryptic patients?The study comprises 14 families with unaffected siblings and with one or two children (total 17) with congenital adrenal hyperplasia (CAH)-21 OH defect. HLA tissue tY1inf and glyoxalase~GlOf confirmed the close genet~c~age between 21 0 de. and HLA-B locus. Positive association with B 47 was found: in 2 of 18 unrelated patients (normal population 0.4%, p < 0.01), negative association to B 8 (only one positive), and no selective increase in B 5 (2/18, normal pop. 10%, NS). HLA genotyping demonstrated 9 heterozygote carriers and 3 normal homozygotes among the siblings. Hormonal analyses showed that basal ACTH values were normal~n all relat~ ves and ACTH stimurated values for cortisol and 17 OHprogesterone in the relatives were overlapping w.rrn:normal values. One family showed: F: A3 B7/A19 Bl4 -M: A29 B21/Al Bl7 -1) healthy sister:-A19 Bl4/Al B17, 2)-classical CAH patient: A3 B7/Al Bl7, 3) late onset patient: A19 B14/Al Bl7. B14 was found in the late onset patient, the father and the healthy sister, and these two were from HLA types and hormonal analyses shown to be what is called "cryptic" patients or "unusual heterozygotes".

Ectopic Production of ACTH by Wilms&rsquo; Tumor

“…11]. In a review of the literature, we only found one record of Wilms' tumor producing adrenocorticotropic 1 A preliminary report has been published [8].hormone [ACTH; I] although the 'ectopic ACTH syndrome' has not infrequently been seen with other tumors [9]. The following case of Cushing's syndrome due to an ACTH-secreting Wilms' tumor is, therefore, presented as the 2nd case.…”