Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2025
Glucocorticoid Resistance Syndrome: A Systematic Review of the Genotypes, Phenotypes, and Their Relationships.
СтатьяСистематический обзорНазвание и аннотация: Перевод в очереди
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Wang Shirui, Su Wan, Duan Lian, Gong Fengying, Chen Shi, Wang Linjie, Pan Hui, Lu Lin, Zhu Huijuan
Аннотация
OBJECTIVE: Generalized glucocorticoid residestance syndrome is a rare disorder caused by mutations in NR3C1. We aimed to systematically characterize its clinical, biochemical, and genetic features and quantitatively evaluate their inter-relationships.
METHODS: We conducted a systematic literature review, identifying 67 cases from 33 published reports, and included 4 unreported cases from Peking Union Medical College Hospital.
RESULTS: In total, 71 cases from 43 unrelated families were analyzed, encompassing 39 distinct NR3C1 mutations. The most frequent clinical manifestations were symptoms of androgen excess (43.3%), followed by mineralocorticoid excess (38.8%) and glucocorticoid deficiency (14.9%). Elevated post-low-dose dexamethasone suppression test cortisol was the predominant hormonal abnormality (97.8%). Adrenal computed tomography revealed hyperplasia or adenomas in 68.8% of evaluated patients. Compared with heterozygotes, those with homozygous/compound heterozygous mutations presented earlier (19.9 vs 35.5 year old, P = .007), with markedly higher prevalence of hypertension/hypokalemia (90.9% vs 28.6%, odds ratio 25.00 [95% confidence interval 2.95 -211.61], P < .001) and higher cortisol (3.20 [1.19, 2.63] vs 1.40 [0.59, 1.20] × upper limit of normal [ULN], P = .002), adrenocorticotropic hormone (4.81 [1.71, 13.00] vs 1.04 [1.00, 1.76] × ULN, P = .001), and testosterone levels (1.84 [1.34, 2.79] vs 0.89 [0.55, 1.77] × ULN, P = .047). Sensitivity analyses restricted to probands confirmed these associations. Clinical manifestations correlated with elevated cortisol, and lower renin was observed in patients with hypertension/hypokalemia.
CONCLUSION: This study provided the most comprehensive quantitative synthesis to date of glucocorticoid resistance syndrome, highlighting genotype-phenotype correlations and advancing understanding of its clinical and hormonal spectrum.
METHODS: We conducted a systematic literature review, identifying 67 cases from 33 published reports, and included 4 unreported cases from Peking Union Medical College Hospital.
RESULTS: In total, 71 cases from 43 unrelated families were analyzed, encompassing 39 distinct NR3C1 mutations. The most frequent clinical manifestations were symptoms of androgen excess (43.3%), followed by mineralocorticoid excess (38.8%) and glucocorticoid deficiency (14.9%). Elevated post-low-dose dexamethasone suppression test cortisol was the predominant hormonal abnormality (97.8%). Adrenal computed tomography revealed hyperplasia or adenomas in 68.8% of evaluated patients. Compared with heterozygotes, those with homozygous/compound heterozygous mutations presented earlier (19.9 vs 35.5 year old, P = .007), with markedly higher prevalence of hypertension/hypokalemia (90.9% vs 28.6%, odds ratio 25.00 [95% confidence interval 2.95 -211.61], P < .001) and higher cortisol (3.20 [1.19, 2.63] vs 1.40 [0.59, 1.20] × upper limit of normal [ULN], P = .002), adrenocorticotropic hormone (4.81 [1.71, 13.00] vs 1.04 [1.00, 1.76] × ULN, P = .001), and testosterone levels (1.84 [1.34, 2.79] vs 0.89 [0.55, 1.77] × ULN, P = .047). Sensitivity analyses restricted to probands confirmed these associations. Clinical manifestations correlated with elevated cortisol, and lower renin was observed in patients with hypertension/hypokalemia.
CONCLUSION: This study provided the most comprehensive quantitative synthesis to date of glucocorticoid resistance syndrome, highlighting genotype-phenotype correlations and advancing understanding of its clinical and hormonal spectrum.