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 <em>MC2R</em> 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 <em>MC2R</em> 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 <em>MC2R</em> 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 <em>NNT</em> 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 <em>NNT</em> 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 <em>NR0B1</em> 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: <em>In Silico</em> 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<sup>+</sup> 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 <em>CYP11A1</em> 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