Abstract 179: "Chrousos syndrome" - "A rare case OF gonadotropin independent precocious puberty with hypokalemic hypertension" in a male child
Introduction: Primary generalized glucocorticoid resistance (PGGR) is a rare hereditary disease that was first described in 1976 by Vingerhoeds et al., and its molecular mechanism was elucidated in 1982 by Chrousos et al. It is characterized by -Generalized / partial target-tissue insensitivity to g...
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Published in | Indian journal of endocrinology and metabolism Vol. 26; no. 8; p. 77 |
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Main Authors | , , |
Format | Journal Article |
Language | English |
Published |
Pradesh
Wolters Kluwer India Pvt. Ltd
01.12.2022
Medknow Publications and Media Pvt. Ltd Medknow Publications & Media Pvt. Ltd |
Subjects | |
Online Access | Get full text |
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Summary: | Introduction: Primary generalized glucocorticoid resistance (PGGR) is a rare hereditary disease that was first described in 1976 by Vingerhoeds et al., and its molecular mechanism was elucidated in 1982 by Chrousos et al. It is characterized by -Generalized / partial target-tissue insensitivity to glucocorticoids with hyperactivation of the HP axis, adrenocortical hyperplasia/hypertrophy, increased adrenal cortical steroids. HPA axis circadian rhythm and responsiveness to stressors are intact in GRS.
Case Report: 8 year-old boy was brought to hospital with C/O weakness of both UL and LL for past 4-5 days, was found to have hypokalaemia for which he received treatment. Noticed facial hair, pubic hair, axillary hair since last 3 years. Examination revealed Hypertension which needed enalapril and spironolactone for control. H/A was 11 yrs 6 months (> +3 SDS), W/A 10 years 10 months (@ 90th centile), SMR-A2 P3, B/L Testis- 25cc, Nodular & firm in consistency. Biochemical investigations suggestive of Elevated cortisol, ACTH and 24 hour- urine free cortisol, Androgen excess and Low PAC & PRA and metabolic alkalosis with hypokalemia. Bone age of 13 years, Imaging was suggestive of B/L bulky adrenals and B/L testicular adrenal rest tumours.
Discussion: The clinical spectrum of GRS is broad. AVariable clinical phenotype is due to decreased receptor number, delayed translocation, DNA binding & transactivation, genetic or epigenetic factors. Dexamethasone activates the mutant and/or wild-type hGRα.
Conclusion: GRS is a heterogenous disorder with very broad clinical spectrum. 11 beta hydroxylase deficiency and GRS are clinically indistinguishable. Genetic testing has a role. Serum and urinary cortisol, which are low/ low-normal in 11-BHD but elevated in GRS. Aim of treatment with dexamethasone is to suppress the excess secretion of ACTH and adrenal steroids. |
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ISSN: | 2230-8210 2230-9500 2230-9500 |
DOI: | 10.4103/2230-8210.363685 |