Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2
نویسندگان
چکیده
منابع مشابه
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2
CONTEXT Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder as a result of mutation in genes encoding either the ACTH receptor [melanocortin 2 receptor (MC2R)] or its accessory protein [melanocortin 2 receptor accessory protein (MRAP)]. The disorder is known as FGD type 1 and 2, respectively. OBJECTIVE The aim of the study was to compare the phenotype/genotype rela...
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...
متن کاملA novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD).
Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by low levels of cortisol despite high adrenocorticotropin (ACTH) levels, due to the reduced ability of the adrenal cortex to produce cortisol in response to stimulation by ACTH. FGD is a heterogeneous disorder for which causal mutations have been identified in MC2R, MRAP, MCM4 and TXNRD2. Also mutations i...
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 کاملEarly diagnosis in familial glucocorticoid deficiency
Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive condition, characterized by marked atrophy of zona fasiculata and reticalaris with preservation of zona glomerulosa. Out of more than 50 published cases, 18 patients died as a result of glucocorticoid insufficiency. The main objective of this report is to emphasize the early diagnosis and treatment in our 17 month-old patien...
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ژورنال
عنوان ژورنال: Clinical Endocrinology
سال: 2010
ISSN: 0300-0664,1365-2265
DOI: 10.1111/j.1365-2265.2009.03663.x