XO/XX/XXX Mosaicism with Possible Congenital Adrenal Hyperplasia
- 1 May 1970
- journal article
- other
- Published by The Endocrine Society in Journal of Clinical Endocrinology & Metabolism
- Vol. 30 (5) , 666-669
- https://doi.org/10.1210/jcem-30-5-666
Abstract
A female pseudohermaphrodite is described with XO/XX/XXX mosaicism. A raised 17-ketosteroid excretion in 1962 and a raised pregnanetriol excretion in 1965 suggest that congenitial adrenal hyperplasia is the most likely cause of the patient's masculinization. A spontaneous fall in 17-ketosteroid excretion during the period 1962–1969 also suggests that the adrenal cortex has become refractory to the increased level of ACTH resulting from an inherited block in cortisol biosynthesis.This publication has 0 references indexed in Scilit: