Research By Disease – CheckOrphan

Disease: Glucocorticoid deficiency- familial

50 Years Ago in TheJournalofPediatrics: Isolated Cortisol Deficiency due to ACTH Resistance: An Early Description of Familial Glucocorticoid Deficiency
A Brief History of Congenital Adrenal Hyperplasia
A case of IgG4-positive ligneous conjunctivitis mistaken for a conjunctival mass
A Chinese child with hyperpigmentation diagnosed with familial glucocorticoid deficiency type 1 using whole-exome sequencing
A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia
A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report
A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency
A Novel Homozygous MC2R Variant Leading to Type-1 Familial Glucocorticoid Deficiency
A Novel Mutation in Melanocortin Receptor 2 and a Reported Mutation in Melanocortin Receptor 2 Accessory Protein: Three Chinese Cases with Familial Glucocorticoid Deficiency
A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review
A rare and preventable aetiology of neurodevelopmental delay and epilepsy: familial glucocorticoid deficiency
A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report
A rare homozygous variant of MC2R gene identified in a Chinese family with familial glucocorticoid deficiency type 1: A case report
A Rare Presentation of Homozygous Pathogenic Variant in MC2R Gene with Salt-Wasting Crisis in a Neonate
Accumulation of Asn450Tyr mutant myocilin in ER promotes apoptosis of human trabecular meshwork cells
Adrenal cortex development and related disorders leading to adrenal insufficiency
Adrenal Dysfunction in Mitochondrial Diseases
Adrenal insufficiency as part of X-linked adrenoleukodystrophy
Analysis of a pitfall in congenital adrenal hyperplasia newborn screening: evidence of maternal use of corticoids detected on dried blood spot
ATP-binding cassette family C member 1 constrains metabolic responses to high-fat diet
ATP-binding cassette family C member 1 constrains metabolic responses to high-fat diet in male mice
Bone phenotype in melanocortin 2 receptor-deficient mice
Cardiovascular risk in Cuban adolescents and young adults with congenital adrenal hyperplasia
Case Report: Neonatal Cholestasis as Early Manifestation of Primary Adrenal Insufficiency
Challenges in the treatment of late-identified untreated congenital adrenal hyperplasia due to CYP11B1 deficiency: Lessons from a developing country
Change in function and homeostasis of HPA axis: The role of vitamin family
Circ_0043532 regulates miR-182/SGK3 axis to promote granulosa cell progression in polycystic ovary syndrome
Classic and current concepts in adrenal steroidogenesis: a reappraisal
Clinical and functional analyses of the novel STAR c.558C>A in a patient with classic lipoid congenital adrenal hyperplasia
Clinical and Genetic Analyses of Two Unrelated 46, XX Girls with Combined 17alpha-Hydroxylase/17,20-lyase Deficiency from China
Clinical and Genetic Analyses of Two Unrelated 46, XX Girls with Combined 17α-Hydroxylase/17,20-lyase Deficiency from China
Clinical and molecular characterization of thirty Chinese patients with congenital lipoid adrenal hyperplasia
Clinical characteristics and genetic analysis of two children with Familial glucocorticoid deficiency type 1 due to variants of MC2R gene
Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review
Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report
Current and Novel Treatment Strategies in Children with Congenital Adrenal Hyperplasia
Current Insights Into Adrenal Insufficiency in the Newborn and Young Infant
Decreased 11beta-hydroxysteroid dehydrogenase 1 in lungs of steroid receptor coactivator (Src)-1/-2 double-deficient fetal mice is caused by impaired glucocorticoid and cytokine signaling
Decreased 11β-hydroxysteroid dehydrogenase 1 in lungs of steroid receptor coactivator (Src)-1/-2 double-deficient fetal mice is caused by impaired glucocorticoid and cytokine signaling
Defective complex III mitochondrial respiratory chain due to a novel variant in CYC1 gene masquerades acute demyelinating syndrome or Leber hereditary optic neuropathy
Diagnosis and treatment of acquired factor VIII deficiency: a case report and literature review
Dysfunction of the Klotho-miR-30s/TRPC6 axis confers podocyte injury
Efficacy and safety of thalidomide in children with monogenic autoinflammatory diseases: a single-center, real-world-evidence study
Establishment of human induced pluripotent stem cell line SDQLCHi029-A from one Type 1 familial glucocorticoid deficiency patient carrying compound heterozygote mutations in MC2R gene
Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene
Experience of successful laparoscopic sleeve resection of the stomach and treatment of morbid obesity in a patient with a classic form of congenital adrenal dysfunction
Familial Glucocorticoid Deficiency Presenting with Tonic-Clonic Seizure: A Case Report
Familial Glucocorticoid Deficiency: the changing landscape of an eponymous syndrome
Follow up of a rare case of adrenal insufficiency due to NNT mutation
Getting pregnant with congenital adrenal hyperplasia: Assisted reproduction and pregnancy complications. A systematic review and meta-analysis
GITR controls intestinal inflammation by suppressing IL-15-dependent NK cell activity
GITR exacerbates lysophosphatidylcholine-induced macrophage pyroptosis in sepsis via posttranslational regulation of NLRP3
Glucocorticoid induced TNF receptor family-related protein (GITR) - A novel driver of atherosclerosis
Glucocorticoid Receptor Alpha Targets SLC2A4 to Regulate Protein Synthesis and Breakdown in Porcine Skeletal Muscle Cells
Glucocorticoid-induced tumour necrosis factor receptor family-related protein (GITR) drives atherosclerosis in mice and is associated with an unstable plaque phenotype and cerebrovascular events in humans
Growth alterations in rare forms of primary adrenal insufficiency: a neglected issue in paediatric endocrinology
Hepatocyte-secreted FAM3D ameliorates hepatic steatosis by activating FPR1-hnRNP U-GR-SCAD pathway to enhance lipid oxidation
High-throughput sequencing analysis of differences in intestinal microflora between ulcerative colitis patients with different glucocorticoid response types
Hormone resistance in children: what primary care physicians need to know
Identifying the First Val281L Mutation Causing Nonclassic Congenital Adrenal Hyperplasia in the Central-East Region of Tunisia
Kinetic networks identify TWIST2 as a key regulatory node in adipogenesis
Late-Onset Ornithine Transcarbamylase Deficiency Complicated with Extremely High Serum Ammonia Level: Prompt Induction of Hemodialysis as the Key to Successful Treatment
Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency
Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency
Loss of endothelial glucocorticoid receptor promotes angiogenesis via upregulation of Wnt/beta-catenin pathway
Loss of endothelial glucocorticoid receptor promotes angiogenesis via upregulation of Wnt/β-catenin pathway
Mahuang Fuzi Xixin decoction alleviates allergic rhinitis by inhibiting NLRP3/Caspase-1/GSDMD-N-mediated pyroptosis
Mineralocorticoids induce polyuria by reducing apical aquaporin-2 expression of the kidney in partial vasopressin deficiency
Misfolded G Protein-Coupled Receptors and Endocrine Disease. Molecular Mechanisms and Therapeutic Prospects
National survey on clinical and genetic characteristics of patients with hereditary angioedema in Latvia
Nicotinamide Nucleotide Transhydrogenase Is Essential for Adrenal Steroidogenesis: Clinical and In Vitro Lessons
Novel Melano-Cortin-2-Receptor Gene Mutation Presenting With Infantile Cholestasis: A Case Report
Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita
Pediatric Primary Adrenal Insufficiency: A 21-year Single Center Experience
Perinatal protein malnutrition alters maternal behavior and leads to maladaptive stress response, neurodevelopmental delay and disruption on DNA methylation machinery in female mice offspring
Pituitary stalk interruption syndrome: A rare case report and literature review
Pneumocystis jiroveci pneumonia with cytomegalovirus infection diagnosed by metagenomic next-generation sequencing in a patient with nephrotic syndrome: A case report
Possible Involvement of MyD88 in Regulating Stress Response in Mice
Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort
Primary Adrenocortical Insufficiency Case Series in the Neonatal Period: Genetic Etiologies Are More Common Than Expected
Racial differences and factors associated with low femoral neck bone mineral density: an analysis of NHANES 2005-2014 data
Rare forms of genetic paediatric adrenal insufficiency: Excluding congenital adrenal hyperplasia
SCARB1 downregulation in adrenal insufficiency with Allgrove syndrome
Serum- and glucocorticoid-induced kinase drives hepatic insulin resistance by directly inhibiting AMP-activated protein kinase
Serum/glucocorticoid-inducible kinase 1 deficiency induces NLRP3 inflammasome activation and autoinflammation of macrophages in a murine endolymphatic hydrops model
Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature
Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia
Study to assess the knowledge of caretakers regarding corticosteroid therapy in children with congenital adrenal hyperplasia - 21 hydroxylase deficiency
Systemic and Nodular Hyperinflammation in a Patient with Refractory Familial Hemophagocytic Lymphohistiocytosis 2
Targeting critical kinases and anti-apoptotic molecules overcomes steroid resistance in MLL-rearranged leukaemia
The Emerging Role of SGK1 (Serum- and Glucocorticoid-Regulated Kinase 1) in Major Depressive Disorder: Hypothesis and Mechanisms
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy
Thioredoxin Reductase 2 (TXNRD2) Variant As A Cause Of Micropenis, Undescended Testis And Selective Glucocorticoid Deficiency
TNF Receptor-Associated Factor 5 Limits IL-27 Receptor Signaling in CD4+ T Lymphocytes
Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review
Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency
Two siblings with non-classic P450scc deficiency resulted from a novel mutation in CYP11A1 gene misdiagnosed as familial glucocorticoid deficiency
X-linked adrenoleukodystrophy and primary adrenal insufficiency