Primary cortisol resistance presenting as isosexual precocity

The Journal of Clinical Endocrinology and Metabolism
C D MalchoffG Reardon

Abstract

Primary cortisol resistance (PCR) is a rare cause of hypercortisolism and usually does not produce clinical manifestations. This report describes primary cortisol resistance in a boy with isosexual precocity. A 6 7/12-yr-old boy had Tanner stage 3 pubic hair, accelerated linear growth, and advanced bone age (10 yr), but normal (for age) tests. There were no features of glucocorticoid excess. Serum androstenedione and dehydroepiandrosterone concentrations were 4.7 +/- 0.3 nmol/L (mean +/- SEM of four measurements; normal less than 1.2) and 13.5 nmol/L (single measurement; normal, 1.0-2.2), respectively. The serum testosterone concentration was 0.9 nmol/L (normal, less than 0.7), and FSH and LH were normal. Serum cortisol concentrations were 1590 +/- 110 nmol/L (normal, 190-630) and 580 +/- 60 nmol/L (normal, 50-410) at 0800 and 2000 h, respectively. Serum cortisol responded normally to insulin-induced hypoglycemia. Glucocorticoids and adrenal androgens were resistant to suppression by dexamethasone. The Kd of [3H]dexamethasone binding to the glucocorticoid receptors of mononuclear leukocytes was increased (6.4 +/- 0.8 nM; mean +/- SEM of four determinations; normal, 1.4-3.4; P less than 0.001), but the binding capacity was norma...Continue Reading

Citations

Apr 1, 1996·Steroids·S W LambertsJ W Koper
Oct 1, 1992·The Journal of Steroid Biochemistry and Molecular Biology·S W LambertsF H de Jong
Apr 1, 1995·Trends in Endocrinology and Metabolism : TEM·C D Malchoff, D M Malchoff
Jul 1, 1995·Trends in Endocrinology and Metabolism : TEM·M Brönnegård, J Carlstedt-Duke
Jun 1, 2001·The Journal of Steroid Biochemistry and Molecular Biology·M I NewB O'Malley
May 1, 1993·The Journal of Clinical Investigation·D M MalchoffC D Malchoff
May 31, 2011·European Journal of Endocrinology·Jan IdkowiakWiebke Arlt
Aug 1, 1992·Trends in Endocrinology and Metabolism : TEM·S W LambertsF H de Jong
Apr 27, 2005·Endocrinology and Metabolism Clinics of North America·Carl D Malchoff, Diana M Malchoff
Feb 9, 2013·Scandinavian Journal of Clinical and Laboratory Investigation·Mini RuizAnn-Charlotte Wikström
Mar 9, 1999·Molecular Genetics and Metabolism·S F Witchel, R R Smith
Jun 1, 1994·Lupus·B Greenstein
Nov 30, 1994·Annals of the New York Academy of Sciences·C A StratakisG P Chrousos
Jan 5, 1999·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·R A RamosG L Firestone
Feb 12, 2020·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Lifen MaTao Chen
Nov 28, 2006·Biochemistry. Biokhimii︠a︡·Z Orbak
Jan 1, 1995·Steroids·K Arai, G P Chrousos
Apr 1, 1994·Baillière's Clinical Endocrinology and Metabolism·K Arai, G P Chrousos
Aug 23, 2017·Pediatrics·Joseph T FlynnUNKNOWN SUBCOMMITTEE ON SCREENING AND MANAGEMENT OF HIGH BLOOD PRESSURE IN CHILDREN

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