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'''Glucocorticoid resistance''' is a syndrome characterized by resistance to [[glucocorticoid]] [[hormone]]s such as [[cortisol]].<ref name="pmid34639183">{{cite journal | vauthors = Nicolaides NC, Charmandari E | title = Primary Generalized Glucocorticoid Resistance and Hypersensitivity Syndromes: A 2021 Update | journal = Int J Mol Sci | volume = 22 | issue = 19 | date = October 2021 | page = 10839 | pmid = 34639183 | pmc = 8509180 | doi = 10.3390/ijms221910839 | url = | doi-access = free }}</ref> Primary generalized glucocorticoid resistance is also known as '''Chrousos syndrome''' and is an extremely rare condition in which a partial resistance to glucocorticoids throughout the entire body occurs.<ref name="pmid34639183" /> It is caused by [[mutation]]s in the [[gene]] encoding the [[glucocorticoid receptor]].<ref name="pmid34639183" /> A characteristic of the syndrome is [[hypothalamic–pituitary–adrenal axis]] (HPA axis) hyperactivation and [[adrenal hyperplasia]].<ref name="pmid34639183" /> This in turn results in biochemical signs of [[hypercortisolism]] without [[Cushing's syndrome]] symptoms (e.g., high levels of [[cortisol]]) as well as high levels of [[adrenal androgen]]s and [[mineralocorticoid]]s.<ref name="pmid34639183" /> Presentation may range from asymptomatic to manifestations of [[androgen excess]], [[mineralocorticoid excess]], and [[neuropsychiatric]] symptoms such as [[depression (mood)|depression]], [[anxiety]], and [[fatigue|chronic fatigue]].<ref name="pmid34639183" /> Management of glucocorticoid resistance is limited to symptomatic individuals and is treated with high doses of mineralocorticoid-sparing [[synthetic compound|synthetic]] [[corticosteroid]]s such as [[dexamethasone]].<ref name="pmid34639183" /> |
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|name = Generalized glucocorticoid resistance |
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|synonyms = Chrousos syndrome |
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|specialty = [[Endocrinology]] |
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'''Generalized glucocorticoid resistance ''' or '''Chrousos syndrome''' is a rare genetic disorder that can run in families or be sporadic. It is characterized by partial or generalized target-tissue insensitivity to glucocorticoids.<ref name="Primary cortisol resistance in man">{{cite journal | last=Chrousos | first=G P | last2=Vingerhoeds | first2=A | last3=Brandon | first3=D | last4=Eil | first4=C | last5=Pugeat | first5=M | last6=DeVroede | first6=M | last7=Loriaux | first7=D L | last8=Lipsett | first8=M B | title=Primary cortisol resistance in man. A glucocorticoid receptor-mediated disease. | journal=Journal of Clinical Investigation | publisher=American Society for Clinical Investigation | volume=69 | issue=6 | date=June 1, 1982 | issn=0021-9738 | doi=10.1172/jci110565 | pages=1261–1269 | doi-access=free}}</ref> |
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==References== |
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{{Reflist}} |
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The clinical spectrum includes severe, potentially fatal conditions like hypoglycemia, alkalosis, or severe hypokalaemia, as well as completely asymptomatic forms. The disease's most prevalent symptom is fatigue.<ref name="Characterization of two novel mutations">{{cite journal | last=Ruiz | first=Mini | last2=Lind | first2=Ulrika | last3=Gåfvels | first3=Mats | last4=Eggertsen | first4=Gösta | last5=Carlstedt‐Duke | first5=Jan | last6=Nilsson | first6=Lennart | last7=Holtmann | first7=Martin | last8=Stierna | first8=Pontus | last9=Wikström | first9=Ann‐Charlotte | last10=Werner | first10=Sigbritt | title=Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance | journal=Clinical Endocrinology | volume=55 | issue=3 | date=2001 | issn=0300-0664 | doi=10.1046/j.1365-2265.2001.01323.x | pages=363–371}}</ref> |
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The elevated 24-hour urinary free cortisol (UFC) excretion in the absence of clinical signs of hypercortisolism and the elevated serum cortisol concentrations point to the diagnosis of generalized glucocorticoid resistance.<ref name="Clinical Aspects, Molecular Mechanisms, and Implications">{{cite journal | last=Charmandari | first=Evangelia | last2=Kino | first2=Tomoshige | last3=Ichijo | first3=Takamasa | last4=Chrousos | first4=George P. | title=Generalized Glucocorticoid Resistance: Clinical Aspects, Molecular Mechanisms, and Implications of a Rare Genetic Disorder | journal=The Journal of Clinical Endocrinology & Metabolism | publisher=The Endocrine Society | volume=93 | issue=5 | date=May 1, 2008 | issn=0021-972X | doi=10.1210/jc.2008-0040 | pages=1563–1572}}</ref> |
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The goal of treatment for generalized glucocorticoid resistance is to reduce excessive ACTH secretion, which in turn reduces the production of more adrenal steroids that have androgenic and mineralocorticoid properties.<ref name="and Hypertension">{{cite journal | last=KINO | first=TOMOSHIGE | last2=VOTTERO | first2=ALESSANDRA | last3=CHARMANDARI | first3=EVANGELIA | last4=CHROUSOS | first4=GEORGE P. | title=Familial/Sporadic Glucocorticoid Resistance Syndrome and Hypertension | journal=Annals of the New York Academy of Sciences | publisher=Wiley | volume=970 | issue=1 | year=2002 | issn=0077-8923 | doi=10.1111/j.1749-6632.2002.tb04416.x | pages=101–111}}</ref> High dosages of synthetic glucocorticoids that spare mineralocorticoids, like dexamethasone, are used as part of the treatment.<ref name="Syndromes of Glucocorticoid Resistance">{{cite journal | last=Chrousos | first=George P. | title=Syndromes of Glucocorticoid Resistance | journal=Annals of Internal Medicine | publisher=American College of Physicians | volume=119 | issue=11 | date=December 1, 1993 | issn=0003-4819 | doi=10.7326/0003-4819-119-11-199312010-00009 | page=1113}}</ref> |
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== Signs and symptoms == |
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Individuals who have generalized glucocorticoid resistance may exhibit biochemical hypercortisolism in the absence of Cushing's syndrome symptoms.<ref name="Generalized and tissue specific glucocorticoid resistance">{{cite journal | last=Martins | first=Clarissa Silva | last2=de Castro | first2=Margaret | title=Generalized and tissue specific glucocorticoid resistance | journal=Molecular and Cellular Endocrinology | publisher=Elsevier BV | volume=530 | year=2021 | issn=0303-7207 | doi=10.1016/j.mce.2021.111277 | page=111277}}</ref> The condition's clinical phenotype varies from cases with no symptoms to signs of excess mineralocorticoids in the body such as hypokalemic alkalosi and hypertension and/or androgen excess, including oligospermia in males, menstrual irregularities, hypo fertility, and amenorrhea in females, precocious puberty, male-pattern hair loss, acne, hirsutism, and ambiguous genitalia at birth with 46, XX.<ref name="A 2021 Update">{{cite journal | last=Nicolaides | first=Nicolas C. | last2=Charmandari | first2=Evangelia | title=Primary Generalized Glucocorticoid Resistance and Hypersensitivity Syndromes: A 2021 Update | journal=International Journal of Molecular Sciences | publisher=MDPI AG | volume=22 | issue=19 | date=October 7, 2021 | issn=1422-0067 | doi=10.3390/ijms221910839 | doi-access=free | page=10839}}</ref> |
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In rare instances, glucocorticoid deficiency has been reported in the following cases: hypoglycemia, severe hypertension, easy "fatigability" with feeding, growth hormone deficiency, and generalized seizures in a 2-year-old girl,<ref name="Novel Point Mutation in Helix 10">{{cite journal | last=Nader | first=Nancy | last2=Bachrach | first2=Bert E. | last3=Hurt | first3=Darrell E. | last4=Gajula | first4=Sonia | last5=Pittman | first5=Amy | last6=Lescher | first6=Rachel | last7=Kino | first7=Tomoshige | title=A Novel Point Mutation in Helix 10 of the Human Glucocorticoid Receptor Causes Generalized Glucocorticoid Resistance by Disrupting the Structure of the Ligand-Binding Domain | journal=The Journal of Clinical Endocrinology & Metabolism | publisher=The Endocrine Society | volume=95 | issue=5 | date=May 1, 2010 | issn=0021-972X | doi=10.1210/jc.2009-2463 | pages=2281–2285}}</ref> adult patients with chronic fatigue,<ref name="Primary cortisol resistance in man" /><ref name="Clinical Aspects, Molecular Mechanisms, and Implications" /> and a newborn with hypoglycemia, hypokalemia, hypoglycemia, and increased arterial pressure.<ref name="Neonatal Complete Generalized Glucocorticoid Resistance">{{cite journal | last=McMahon | first=Sarah K. | last2=Pretorius | first2=Carel J. | last3=Ungerer | first3=Jacobus P. J. | last4=Salmon | first4=Nathaniel J. | last5=Conwell | first5=Louise S. | last6=Pearen | first6=Michael A. | last7=Batch | first7=Jennifer A. | title=Neonatal Complete Generalized Glucocorticoid Resistance and Growth Hormone Deficiency Caused by a Novel Homozygous Mutation in Helix 12 of the Ligand Binding Domain of the Glucocorticoid Receptor Gene (NR3C1) | journal=The Journal of Clinical Endocrinology & Metabolism | publisher=The Endocrine Society | volume=95 | issue=1 | year=2010 | issn=0021-972X | doi=10.1210/jc.2009-1003 | pages=297–302}}</ref> |
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== Causes == |
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De novo genetic defects (point mutations, deletions, or insertions) in the NR3C1 gene can cause sporadic cases of Chrousos syndrome, or it can be inherited in an autosomal recessive or dominant manner.<ref name="Generalized and tissue specific glucocorticoid resistance"/><ref name="Nicolaides Charmandari 2019 pp. 85–102">{{cite book | last=Nicolaides | first=Nicolas C. | last2=Charmandari | first2=Evangelia | title=Experientia Supplementum | chapter=Glucocorticoid Resistance | publisher=Springer International Publishing | publication-place=Cham | year=2019 | isbn=978-3-030-25904-4 | issn=1664-431X | doi=10.1007/978-3-030-25905-1_6 | page=85–102}}</ref> Defective human glucocorticoid receptors in the hypothalamus and pituitary cause impaired glucocorticoid negative feedback loops in patients with Chrousos syndrome, which leads to compensatory hypersecretion of adrenocorticotropic hormone (ACTH), corticotropin-releasing hormone (CRH), and arginine vasopressin (AVP).<ref name="A 2021 Update" /> |
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== Mechanism == |
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Steroid hormones known as "glucocorticoids" are produced in the zona fasciculata of the adrenal cortex and numerous other extra-adrenal organs, such as the skin, thymus, and gut.<ref name="Extra-adrenal glucocorticoid biosynthesis">{{cite journal | last=Slominski | first=Radomir M. | last2=Tuckey | first2=Robert C. | last3=Manna | first3=Pulak R. | last4=Jetten | first4=Anton M. | last5=Postlethwaite | first5=Arnold | last6=Raman | first6=Chander | last7=Slominski | first7=Andrzej T. | title=Extra-adrenal glucocorticoid biosynthesis: implications for autoimmune and inflammatory disorders | journal=Genes & Immunity | publisher=Springer Science and Business Media LLC | volume=21 | issue=3 | date=March 23, 2020 | issn=1466-4879 | doi=10.1038/s41435-020-0096-6 | pages=150–168}}</ref> These lipophilic molecules are essential for the maintenance of both resting as well as threatened homeostasis<ref name="Paediatric stress">{{cite journal | last=Stavrou | first=Stavroula | last2=Nicolaides | first2=Nicolas C. | last3=Critselis | first3=Elena | last4=Darviri | first4=Christina | last5=Charmandari | first5=Evangelia | last6=Chrousos | first6=George P. | title=Paediatric stress: from neuroendocrinology to contemporary disorders | journal=European Journal of Clinical Investigation | publisher=Wiley | volume=47 | issue=3 | date=February 3, 2017 | issn=0014-2972 | doi=10.1111/eci.12724 | pages=262–269}}</ref> and are secreted in the circulatory system in reaction to stressors<ref name="Stress-Related">{{cite journal | last=Nicolaides | first=Nicolas C. | last2=Charmandari | first2=Evangelia | last3=Kino | first3=Tomoshige | last4=Chrousos | first4=George P. | title=Stress-Related and Circadian Secretion and Target Tissue Actions of Glucocorticoids: Impact on Health | journal=Frontiers in Endocrinology | publisher=Frontiers Media SA | volume=8 | date=April 28, 2017 | issn=1664-2392 | doi=10.3389/fendo.2017.00070 | doi-access=free | page=}}</ref> and also in an ultradian and circadian manner.<ref name="Rhythmicity matters">{{cite journal | last=Focke | first=Caroline M.B. | last2=Iremonger | first2=Karl J. | title=Rhythmicity matters: Circadian and ultradian patterns of HPA axis activity | journal=Molecular and Cellular Endocrinology | publisher=Elsevier BV | volume=501 | year=2020 | issn=0303-7207 | doi=10.1016/j.mce.2019.110652 | page=110652}}</ref> |
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== Diagnosis == |
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The elevated 24-hour urinary free cortisol (UFC) excretion with the absence of clinical signs of hypercortisolism and the elevated serum cortisol concentrations point to the diagnosis of generalized glucocorticoid resistance. ACTH plasma concentrations can range from low to high.<ref name="Clinical Aspects, Molecular Mechanisms, and Implications" /> To confirm the diagnosis, peripheral blood mononuclear cells must be used in thymidine incorporation and dexamethasone-binding assays in conjunction with sequencing of the human glucocorticoid receptor gene.<ref name="Malchoff Brufsky Reardon McDermott 1993 pp. 1918–1925">{{cite journal | last=Malchoff | first=D M | last2=Brufsky | first2=A | last3=Reardon | first3=G | last4=McDermott | first4=P | last5=Javier | first5=E C | last6=Bergh | first6=C H | last7=Rowe | first7=D | last8=Malchoff | first8=C D | title=A mutation of the glucocorticoid receptor in primary cortisol resistance. | journal=Journal of Clinical Investigation | publisher=American Society for Clinical Investigation | volume=91 | issue=5 | date=May 1, 1993 | issn=0021-9738 | doi=10.1172/jci116410 | pages=1918–1925}}</ref> |
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When diagnosing generalized glucocorticoid resistance, the differential diagnosis consists of additional factors that can lead to hyperandrogenism or virilization, including congenital adrenal hyperplasia, polycystic ovarian syndrome, and idiopathic hirsutism; hyperaldosteronism, essential hypertension, and additional mineralocorticoid-induced hypertensive disorders; circumstances like a typical pregnancy and estrogen therapy that are linked to increased serum concentrations of corticosteroid-binding globulin; pseudo-Cushing's conditions, like melancholic depression and generalized anxiety; and mild variations of Cushing's disease, in which normal or slightly elevated ACTH concentrations coexist with hypercortisolism.<ref name="Clinical Aspects, Molecular Mechanisms, and Implications" /> |
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== Treatment == |
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The goal of treatment for generalized glucocorticoid resistance is to reduce excessive ACTH secretion, which in turn reduces the production of more adrenal steroids that have androgenic and mineralocorticoid properties.<ref name="and Hypertension" /> High dosages of mineralocorticoid-sparing synthetic glucocorticoids, like dexamethasone, are used as a form of treatment to activate the mutant and/or wild-type hGRα and suppress the affected subjects' natural secretion of ACTH.<ref name="Syndromes of Glucocorticoid Resistance" /> |
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== See also == |
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* [[Cushing's syndrome]] |
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* [[Pseudo-Cushing's syndrome]] |
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== References == |
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{{reflist}} |
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== Further reading == |
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* {{cite journal | last=Molnár | first=Ágnes | last2=Patócs | first2=Attila | last3=Likó | first3=István | last4=Nyírő | first4=Gábor | last5=Rácz | first5=Károly | last6=Tóth | first6=Miklós | last7=Sármán | first7=Beatrix | title=An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature | journal=BMC Medical Genetics | volume=19 | issue=1 | date=2018 | issn=1471-2350 | pmid=29510671 | pmc=5840839 | doi=10.1186/s12881-018-0552-6 | doi-access=free | ref=none}} |
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* {{cite journal | last=van Rossum | first=Elisabeth F.C. | last2=Lamberts | first2=Steven W.J. | title=Glucocorticoid resistance syndrome: a diagnostic and therapeutic approach | journal=Best Practice & Research Clinical Endocrinology & Metabolism | publisher=Elsevier BV | volume=20 | issue=4 | year=2006 | issn=1521-690X | doi=10.1016/j.beem.2006.09.005 | pages=611–626 | ref=none}} |
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== External links == |
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* [https://www.ncbi.nlm.nih.gov/books/NBK278930/ Endotext] |
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Revision as of 21:50, 7 January 2024
| Generalized glucocorticoid resistance | |
|---|---|
| Other names | Chrousos syndrome |
| Specialty | Endocrinology |
Generalized glucocorticoid resistance or Chrousos syndrome is a rare genetic disorder that can run in families or be sporadic. It is characterized by partial or generalized target-tissue insensitivity to glucocorticoids.[1]
The clinical spectrum includes severe, potentially fatal conditions like hypoglycemia, alkalosis, or severe hypokalaemia, as well as completely asymptomatic forms. The disease's most prevalent symptom is fatigue.[2]
The elevated 24-hour urinary free cortisol (UFC) excretion in the absence of clinical signs of hypercortisolism and the elevated serum cortisol concentrations point to the diagnosis of generalized glucocorticoid resistance.[3]
The goal of treatment for generalized glucocorticoid resistance is to reduce excessive ACTH secretion, which in turn reduces the production of more adrenal steroids that have androgenic and mineralocorticoid properties.[4] High dosages of synthetic glucocorticoids that spare mineralocorticoids, like dexamethasone, are used as part of the treatment.[5]
Signs and symptoms
Individuals who have generalized glucocorticoid resistance may exhibit biochemical hypercortisolism in the absence of Cushing's syndrome symptoms.[6] The condition's clinical phenotype varies from cases with no symptoms to signs of excess mineralocorticoids in the body such as hypokalemic alkalosi and hypertension and/or androgen excess, including oligospermia in males, menstrual irregularities, hypo fertility, and amenorrhea in females, precocious puberty, male-pattern hair loss, acne, hirsutism, and ambiguous genitalia at birth with 46, XX.[7]
In rare instances, glucocorticoid deficiency has been reported in the following cases: hypoglycemia, severe hypertension, easy "fatigability" with feeding, growth hormone deficiency, and generalized seizures in a 2-year-old girl,[8] adult patients with chronic fatigue,[1][3] and a newborn with hypoglycemia, hypokalemia, hypoglycemia, and increased arterial pressure.[9]
Causes
De novo genetic defects (point mutations, deletions, or insertions) in the NR3C1 gene can cause sporadic cases of Chrousos syndrome, or it can be inherited in an autosomal recessive or dominant manner.[6][10] Defective human glucocorticoid receptors in the hypothalamus and pituitary cause impaired glucocorticoid negative feedback loops in patients with Chrousos syndrome, which leads to compensatory hypersecretion of adrenocorticotropic hormone (ACTH), corticotropin-releasing hormone (CRH), and arginine vasopressin (AVP).[7]
Mechanism
Steroid hormones known as "glucocorticoids" are produced in the zona fasciculata of the adrenal cortex and numerous other extra-adrenal organs, such as the skin, thymus, and gut.[11] These lipophilic molecules are essential for the maintenance of both resting as well as threatened homeostasis[12] and are secreted in the circulatory system in reaction to stressors[13] and also in an ultradian and circadian manner.[14]
Diagnosis
The elevated 24-hour urinary free cortisol (UFC) excretion with the absence of clinical signs of hypercortisolism and the elevated serum cortisol concentrations point to the diagnosis of generalized glucocorticoid resistance. ACTH plasma concentrations can range from low to high.[3] To confirm the diagnosis, peripheral blood mononuclear cells must be used in thymidine incorporation and dexamethasone-binding assays in conjunction with sequencing of the human glucocorticoid receptor gene.[15]
When diagnosing generalized glucocorticoid resistance, the differential diagnosis consists of additional factors that can lead to hyperandrogenism or virilization, including congenital adrenal hyperplasia, polycystic ovarian syndrome, and idiopathic hirsutism; hyperaldosteronism, essential hypertension, and additional mineralocorticoid-induced hypertensive disorders; circumstances like a typical pregnancy and estrogen therapy that are linked to increased serum concentrations of corticosteroid-binding globulin; pseudo-Cushing's conditions, like melancholic depression and generalized anxiety; and mild variations of Cushing's disease, in which normal or slightly elevated ACTH concentrations coexist with hypercortisolism.[3]
Treatment
The goal of treatment for generalized glucocorticoid resistance is to reduce excessive ACTH secretion, which in turn reduces the production of more adrenal steroids that have androgenic and mineralocorticoid properties.[4] High dosages of mineralocorticoid-sparing synthetic glucocorticoids, like dexamethasone, are used as a form of treatment to activate the mutant and/or wild-type hGRα and suppress the affected subjects' natural secretion of ACTH.[5]
See also
References
- ^ a b Chrousos, G P; Vingerhoeds, A; Brandon, D; Eil, C; Pugeat, M; DeVroede, M; Loriaux, D L; Lipsett, M B (June 1, 1982). "Primary cortisol resistance in man. A glucocorticoid receptor-mediated disease". Journal of Clinical Investigation. 69 (6). American Society for Clinical Investigation: 1261–1269. doi:10.1172/jci110565. ISSN 0021-9738.
- ^ Ruiz, Mini; Lind, Ulrika; Gåfvels, Mats; Eggertsen, Gösta; Carlstedt‐Duke, Jan; Nilsson, Lennart; Holtmann, Martin; Stierna, Pontus; Wikström, Ann‐Charlotte; Werner, Sigbritt (2001). "Characterization of two novel mutations in the glucocorticoid receptor gene in patients with primary cortisol resistance". Clinical Endocrinology. 55 (3): 363–371. doi:10.1046/j.1365-2265.2001.01323.x. ISSN 0300-0664.
- ^ a b c d Charmandari, Evangelia; Kino, Tomoshige; Ichijo, Takamasa; Chrousos, George P. (May 1, 2008). "Generalized Glucocorticoid Resistance: Clinical Aspects, Molecular Mechanisms, and Implications of a Rare Genetic Disorder". The Journal of Clinical Endocrinology & Metabolism. 93 (5). The Endocrine Society: 1563–1572. doi:10.1210/jc.2008-0040. ISSN 0021-972X.
- ^ a b KINO, TOMOSHIGE; VOTTERO, ALESSANDRA; CHARMANDARI, EVANGELIA; CHROUSOS, GEORGE P. (2002). "Familial/Sporadic Glucocorticoid Resistance Syndrome and Hypertension". Annals of the New York Academy of Sciences. 970 (1). Wiley: 101–111. doi:10.1111/j.1749-6632.2002.tb04416.x. ISSN 0077-8923.
- ^ a b Chrousos, George P. (December 1, 1993). "Syndromes of Glucocorticoid Resistance". Annals of Internal Medicine. 119 (11). American College of Physicians: 1113. doi:10.7326/0003-4819-119-11-199312010-00009. ISSN 0003-4819.
- ^ a b Martins, Clarissa Silva; de Castro, Margaret (2021). "Generalized and tissue specific glucocorticoid resistance". Molecular and Cellular Endocrinology. 530. Elsevier BV: 111277. doi:10.1016/j.mce.2021.111277. ISSN 0303-7207.
- ^ a b Nicolaides, Nicolas C.; Charmandari, Evangelia (October 7, 2021). "Primary Generalized Glucocorticoid Resistance and Hypersensitivity Syndromes: A 2021 Update". International Journal of Molecular Sciences. 22 (19). MDPI AG: 10839. doi:10.3390/ijms221910839. ISSN 1422-0067.
- ^ Nader, Nancy; Bachrach, Bert E.; Hurt, Darrell E.; Gajula, Sonia; Pittman, Amy; Lescher, Rachel; Kino, Tomoshige (May 1, 2010). "A Novel Point Mutation in Helix 10 of the Human Glucocorticoid Receptor Causes Generalized Glucocorticoid Resistance by Disrupting the Structure of the Ligand-Binding Domain". The Journal of Clinical Endocrinology & Metabolism. 95 (5). The Endocrine Society: 2281–2285. doi:10.1210/jc.2009-2463. ISSN 0021-972X.
- ^ McMahon, Sarah K.; Pretorius, Carel J.; Ungerer, Jacobus P. J.; Salmon, Nathaniel J.; Conwell, Louise S.; Pearen, Michael A.; Batch, Jennifer A. (2010). "Neonatal Complete Generalized Glucocorticoid Resistance and Growth Hormone Deficiency Caused by a Novel Homozygous Mutation in Helix 12 of the Ligand Binding Domain of the Glucocorticoid Receptor Gene (NR3C1)". The Journal of Clinical Endocrinology & Metabolism. 95 (1). The Endocrine Society: 297–302. doi:10.1210/jc.2009-1003. ISSN 0021-972X.
- ^ Nicolaides, Nicolas C.; Charmandari, Evangelia (2019). "Glucocorticoid Resistance". Experientia Supplementum. Cham: Springer International Publishing. p. 85–102. doi:10.1007/978-3-030-25905-1_6. ISBN 978-3-030-25904-4. ISSN 1664-431X.
- ^ Slominski, Radomir M.; Tuckey, Robert C.; Manna, Pulak R.; Jetten, Anton M.; Postlethwaite, Arnold; Raman, Chander; Slominski, Andrzej T. (March 23, 2020). "Extra-adrenal glucocorticoid biosynthesis: implications for autoimmune and inflammatory disorders". Genes & Immunity. 21 (3). Springer Science and Business Media LLC: 150–168. doi:10.1038/s41435-020-0096-6. ISSN 1466-4879.
- ^ Stavrou, Stavroula; Nicolaides, Nicolas C.; Critselis, Elena; Darviri, Christina; Charmandari, Evangelia; Chrousos, George P. (February 3, 2017). "Paediatric stress: from neuroendocrinology to contemporary disorders". European Journal of Clinical Investigation. 47 (3). Wiley: 262–269. doi:10.1111/eci.12724. ISSN 0014-2972.
- ^ Nicolaides, Nicolas C.; Charmandari, Evangelia; Kino, Tomoshige; Chrousos, George P. (April 28, 2017). "Stress-Related and Circadian Secretion and Target Tissue Actions of Glucocorticoids: Impact on Health". Frontiers in Endocrinology. 8. Frontiers Media SA. doi:10.3389/fendo.2017.00070. ISSN 1664-2392.
- ^ Focke, Caroline M.B.; Iremonger, Karl J. (2020). "Rhythmicity matters: Circadian and ultradian patterns of HPA axis activity". Molecular and Cellular Endocrinology. 501. Elsevier BV: 110652. doi:10.1016/j.mce.2019.110652. ISSN 0303-7207.
- ^ Malchoff, D M; Brufsky, A; Reardon, G; McDermott, P; Javier, E C; Bergh, C H; Rowe, D; Malchoff, C D (May 1, 1993). "A mutation of the glucocorticoid receptor in primary cortisol resistance". Journal of Clinical Investigation. 91 (5). American Society for Clinical Investigation: 1918–1925. doi:10.1172/jci116410. ISSN 0021-9738.
Further reading
- Molnár, Ágnes; Patócs, Attila; Likó, István; Nyírő, Gábor; Rácz, Károly; Tóth, Miklós; Sármán, Beatrix (2018). "An unexpected, mild phenotype of glucocorticoid resistance associated with glucocorticoid receptor gene mutation case report and review of the literature". BMC Medical Genetics. 19 (1). doi:10.1186/s12881-018-0552-6. ISSN 1471-2350. PMC 5840839. PMID 29510671.
- van Rossum, Elisabeth F.C.; Lamberts, Steven W.J. (2006). "Glucocorticoid resistance syndrome: a diagnostic and therapeutic approach". Best Practice & Research Clinical Endocrinology & Metabolism. 20 (4). Elsevier BV: 611–626. doi:10.1016/j.beem.2006.09.005. ISSN 1521-690X.