Exclusion of the Adrenocorticotropin (ACTH) Receptor (MC2R) Locus in Some Families with ACTH Resistance but No Mutations of the MC2R Coding Sequence (Familial Glucocorticoid Deficiency Type 2)
نویسندگان
چکیده
منابع مشابه
Heterogeneity in the molecular basis of ACTH resistance syndrome.
OBJECTIVE ACTH resistance syndromes are rare, autosomal, and genetically heterogeneous diseases that include familial glucocorticoid deficiency (FGD) and triple A syndrome. FGD has been shown to segregate with mutations in the gene coding for ACTH receptor (MC2R) or melanocortin 2 receptor accessory protein (MRAP), whereas mutations in the triple A syndrome (AAAS, Allgrove syndrome) gene have b...
متن کاملHomozygous nonsense and frameshift mutations of the ACTH receptor in children with familial glucocorticoid deficiency (FGD) are not associated with long-term mineralocorticoid deficiency
OBJECTIVE Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by isolated glucocorticoid deficiency with preserved mineralocorticoid secretion. Mutations in the ACTH receptor (MC2R) account for approximately 25% of all FGD cases, but since these are usually missense mutations, a degree of receptor function is frequently retained. A recent report, however...
متن کاملIsolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency
BACKGROUND Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease caused by ACTH resistance and leads to isolated glucocorticoid deficiency. Although FGD patients typically have normal mineralocorticoid secretion, subtle alterations in the renin-angiotensin-aldosterone axis have been reported in a subset of patients at presentation. Anecdotally, some patients with FGD ha...
متن کاملFamilial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutation.
OBJECTIVE Description of the clinical, biochemical and genetic features of a Polish patient with familial glucocorticoid deficiency. METHODS Detailed clinical investigation, hormonal analysis and sequencing of the coding region of the melanocortin 2 receptor (MC2R) gene in this patient. RESULTS We report on a 3-month-old boy with familial glucocorticoid deficiency who presented at the age o...
متن کاملFamilial Glucocorticoid Deficiency Type 2: A Case Report
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease resulting from resistance to the action of adrenocorticotropic hormone (ACTH) on the adrenal cortex, which leads to isolated glucocorticoid deficiency with normal mineralocorticoid secretion. It may present in infancy or early childhood with hyperpigmentation, failure to thrive, recurrent infections, hypoglycemic att...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 1998
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.83.10.5166