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Page 1
Isolated glucocorticoid deficiency: Genetic causes and animal models.
Maharaj A, Maudhoo A, Chan LF, Novoselova T, Prasad R, Metherell LA, Guasti L. Maharaj A, et al. J Steroid Biochem Mol Biol. 2019 May;189:73-80. doi: 10.1016/j.jsbmb.2019.02.012. Epub 2019 Feb 25. J Steroid Biochem Mol Biol. 2019. PMID: 30817990 Review.
Hereditary adrenocorticotropin (ACTH) resistance syndromes encompass the genetically heterogeneous isolated or Familial Glucocorticoid Deficiency (FGD) and the distinct clinical entity known as Triple A syndrome. ...Triple A syndrome is an inherited condition involv …
Hereditary adrenocorticotropin (ACTH) resistance syndromes encompass the genetically heterogeneous isolated or Familial Glucocorticoid …
ACTH resistance syndromes.
Huebner A, Elias LL, Clark AJ. Huebner A, et al. J Pediatr Endocrinol Metab. 1999 Apr;12 Suppl 1:277-93. J Pediatr Endocrinol Metab. 1999. PMID: 10698592 Review.
This review focuses on two autosomal recessive disorders, familial glucocorticoid deficiency (FGD) (MIM*202200) and the triple A syndrome (MIM*231550), which have at least three different molecular aetiologies. ...The triple A syndrome is clinically characterized by …
This review focuses on two autosomal recessive disorders, familial glucocorticoid deficiency (FGD) (MIM*202200) and the triple …
Isolated glucocorticoid deficiency and ACTH receptor mutations.
Tsigos C. Tsigos C. Arch Med Res. 1999 Nov-Dec;30(6):475-80. doi: 10.1016/s0188-0128(99)00057-3. Arch Med Res. 1999. PMID: 10714360 Review.
Familial isolated glucocorticoid deficiency is a form of potentially lethal hereditary unresponsiveness to ACTH that manifests as primary adrenal insufficiency, usually without mineralocorticoid deficiency. ...The etiological involvement of the ACTH receptor …
Familial isolated glucocorticoid deficiency is a form of potentially lethal hereditary unresponsiveness to ACTH that manifests …
The molecular basis of adrenocorticotrophin resistance syndrome.
Elias LL, Clark AL. Elias LL, et al. Prog Mol Biol Transl Sci. 2009;88:155-71. doi: 10.1016/S1877-1173(09)88005-8. Epub 2009 Oct 7. Prog Mol Biol Transl Sci. 2009. PMID: 20374727 Review.
Adrenocorticotrophin resistance syndromes comprise familial glucocorticoid deficiency (FGD) and triple A syndrome, which are rare autosomal recessive diseases with distinct clinical features and molecular etiologies. ...About 20% of FGD patients carry homozygous mut …
Adrenocorticotrophin resistance syndromes comprise familial glucocorticoid deficiency (FGD) and triple A syndrome, which are r …
[Achalasia, alacrimia and cortisol deficiency--Allgrove syndrome].
Hübschmann K. Hübschmann K. Klin Padiatr. 1995 May-Jun;207(3):126-9. doi: 10.1055/s-2008-1046527. Klin Padiatr. 1995. PMID: 7623430 Review. German.
Review of a rare multisystem disorder with the main symptoms achalasia of the esophagus, alacrimia and glucocorticoid deficiency as well as multiple other symptoms especially of the nervous system. ...Description of the danger to live of the affected patients …
Review of a rare multisystem disorder with the main symptoms achalasia of the esophagus, alacrimia and glucocorticoid defic …
[ACTH resistance syndromes].
Naville D, Penhoat A, Bégeot M. Naville D, et al. Ann Endocrinol (Paris). 2000 Nov;61(5):428-39. Ann Endocrinol (Paris). 2000. PMID: 11084394 Review. French.
However, all these diseases share the feature of severe glucocorticoid adrenal insufficiency. The simplest disorder is the isolated familial glucocorticoid deficiency (FGD) which could be divided in two different types. ...The third molecular form of the dise …
However, all these diseases share the feature of severe glucocorticoid adrenal insufficiency. The simplest disorder is the isolated f …
[Familial glucocorticoid deficiency].
Mazur A, Ostański M, Kalina M. Mazur A, et al. Pediatr Endocrinol Diabetes Metab. 2007;13(2):91-4. Pediatr Endocrinol Diabetes Metab. 2007. PMID: 17880814 Review. Polish.
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder, in 40% of patients caused by mutation in the ACTH receptor gene. ...Allgrove's syndrome, is considered to be a separate condition, characterized by glucocorticoid deficiency …
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder, in 40% of patients caused by mutation in the …
The molecular pathogenesis of ACTH insensitivity syndromes.
Clark AJ, Metherell L, Swords FM, Elias LL. Clark AJ, et al. Ann Endocrinol (Paris). 2001 Apr;62(2):207-11. Ann Endocrinol (Paris). 2001. PMID: 11353896 Review.
ACTH insensitivity results from a group of rare autosomal recessive genetic defects. Familial glucocorticoid deficiency is one of these syndromes in which about half of all cases have inactivating mutations of the ACTH receptor. ...The triple A syndrome is a distinc …
ACTH insensitivity results from a group of rare autosomal recessive genetic defects. Familial glucocorticoid deficiency is one …
[Simultaneous occurrence of selective ACTH deficiency , achalasia, alacrimia and hyperlipoproteinemia].
Várkonyi A, Julesz J, Szüts P, Tóth I, Faredin I. Várkonyi A, et al. Orv Hetil. 1990 Dec 16;131(50):2763-6. Orv Hetil. 1990. PMID: 2176279 Review. Hungarian.
An extremely rare clinical syndrome on a 7-year-old girl is presented. Besides isolated glucocorticoid insufficiency, achalasia and alacrimia disturbance of the lipid metabolism was also detected--this is a special feature of this case. ...
An extremely rare clinical syndrome on a 7-year-old girl is presented. Besides isolated glucocorticoid insufficiency, achalasia …