Research By Disease – CheckOrphan

Disease: X-linked adrenal hypoplasia congenita

A 3-Year-Old Boy with an Xp21 Deletion Syndrome: A Case Report
A Case of X-Linked Adrenal Hypoplasia Congenital (AHC) Due to Large Deletion of NR0B1 (DAX1) and Contiguous Gene
A de novo mutation of DAX1 in a boy with congenital adrenal hypoplasia without hypogonadotropic hypogonadism
A four-generation pedigree affected with X-linked adrenal hypoplasia congenita due to a novel missense DAX1 mutation
A girl with MIRAGE syndrome who developed steroid-resistant nephrotic syndrome: a case report
A novel DAX-1 (NR0B1) mutation in a boy with X-linked adrenal hypoplasia congenita
A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism
A novel de novo frameshift mutation in NR0B1 and low prenatal estriol in adrenal hypoplasia congenita
A novel mutation in the NR0B1 (DAX1) gene in a large family with two boys affected by congenital adrenal hypoplasia
A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia
A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia
A novel stop mutation (p.(Gln22*)) of DAX1 (NR0B1) results in late-onset X-linked adrenal hypoplasia congenita
A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and elevated hypothalamic-pituitary-gonadal/adrenal axis responses
A novel variant in NR0B1 causing X-linked adrenal hypoplasia congenita
A rare co-occurrence of duchenne muscular dystrophy, congenital adrenal hypoplasia and glycerol kinase deficiency due to Xp21 contiguous gene deletion syndrome: case report
Adrenal Development in Mice Requires GATA4 and GATA6 Transcription Factors
Adrenal hypoplasia congenita in identical twins
Adult cerebral adrenoleukodystrophy and Addison's disease in a female carrier
Adult-onset X-linked adrenal hypoplasia congenita caused by a novel mutation in DAX1/NR0B1: A case report and literature review
Adult‑onset X‑linked adrenal hypoplasia congenita caused by a novel mutation in DAX1/NR0B1: A case report and literature review
Against the Odds
Aldosterone signaling defect in young infants: single-center report and review
Beyond the adrenals: Organ manifestations in inherited primary adrenal insufficiency in children
Bilateral testicular masses and adrenal insufficiency: is congenital adrenal hyperplasia the only possible diagnosis? First two cases of TARTS described in Addison-only X-linked adrenoleukodystrophy and a brief review of literature
Case 2: A 4-year-old Boy with Recurrent Vomiting
Case Report: A Novel Truncating Variant of NR0B1 Presented With X-Linked Late-Onset Adrenal Hypoplasia Congenita With Hypogonadotropic Hypogonadism
Central precocious puberty in a patient with X-linked adrenal hypoplasia congenita and Xp21 contiguous gene deletion syndrome
Cholestasis and Hepatic Iron Deposition in an Infant With Complex Glycerol Kinase Deficiency
Clinical and genetic characteristics of 42 Chinese paediatric patients with X-linked adrenal hypoplasia congenita
Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1
Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene
Clinical and mutational analysis of 7 children with X-linked adrenal dysplasia congenita
Clinical features of congenital adrenal insufficiency including growth patterns and significance of ACTH stimulation test
Complex glycerol kinase deficiency - long-term follow-up of two patients
Complex Glycerol Kinase Deficiency (Xp21 Deletion Syndrome): A Case Report of a Contiguous Gene Disorder Necessitating Creative Anesthetic Planning
Congenital adrenal hypoplasia due to p.Leu386Pro mutation in DAX1
Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience
CRISPR/Cas9-mediated Dax1 knockout in the monkey recapitulates human AHC-HH
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease
DAX1-unusual member of nuclear receptors superfamily with diverse functions
Delayed diagnosis of complex glycerol kinase deficiency in a Chinese male infant: a case report
Delayed-onset adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by a novel mutation in DAX1
Disorders of Sexual Development in Adult Women
Dysfunction of hypothalamic-pituitary-testicular axis in patients with adrenal hypoplasia congenita due to DAX-1 gene mutation
Electrochemical sensing of cortisol: a recent update
Evaluation of aldosterone concentrations in dogs with hypoadrenocorticism
Evaluation of Serum Oxidized Low-Density Lipoprotein in Renal Transplant Recipients and Hemodialysis Patients and Relation With Involved Variables
Evaluation of the genetic basis of primary hypoadrenocorticism in Standard Poodles using SNP array genotyping and whole-genome sequencing
Genetic forms of adrenal insufficiency
Glucagon response to oral glucose challenge in type 1 diabetes: lack of impact of euglycemia
Gonadotropin- and Adrenocorticotropic Hormone-Independent Precocious Puberty of Gonadal Origin in a Patient with Adrenal Hypoplasia Congenita Due to DAX1 Gene Mutation - A Case Report and Review of the Literature: Implications for the Pathomechanism
Hypertriglyceridaemia unresponsive to multiple treatments
Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism
Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita
Identification and Functional Analysis of Six DAX1 Mutations in Patients With X-Linked Adrenal Hypoplasia Congenita
Identification of a novel mutation of NR0B1 in a patient with X-linked adrenal hypoplasia and symptomatic treatment
Identification of a novel point mutation in DAX-1 gene in a patient with adrenal hypoplasia congenita
IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature
Infantile Growth Hormone Deficiency and X- Linked Adrenal Hypoplasia Congenita
Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report
Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1
Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center
Low estriol levels in the maternal marker screen as a predictor of X-linked adrenal hypoplasia congenita: case report
MicroRNA-561 promotes acetaminophen-induced hepatotoxicity in HepG2 cells and primary human hepatocytes through downregulation of the nuclear receptor corepressor dosage-sensitive sex-reversal adrenal hypoplasia congenital critical region on the X chromos
Mild adrenal insufficiency due to a NROB1 (DAX1) gene mutation in a boy presenting an association of hypogonadotropic hypogonadism, reduced final height and attention deficit disorder
New insights into X-linked adrenal hypoplasia congenita from a novel splice-site variant of NR0B1 and adrenal CT images
Novel frameshift mutation of the NR0B1(DAX1) in two tall adult brothers
Novel mutation in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene associated with intrafamilial heterogeneity in three boys with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism from India
Novel mutation in the nuclear receptor subfamily 0, group B, member 1 (NR0B1) gene associated with intrafamilial heterogeneity in three boys with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism from India
Novel mutations and spectrum of the disease of NR0B1 (DAX1)-related adrenal insufficiency in Indian children
Novel mutations of DAX1 (NR0B1) in two Chinese families with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism
Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita
NR0B1 Frameshift Mutation in a Boy with Idiopathic Central Precocious Puberty
Persistent hypoglycemia
Pleomorphism of the HPG axis with NR0B1 gene mutation - a case report of longitudinal follow-up of a proband with central precocious puberty
Presence of 21-Hydroxylase Antibodies in a Boy with X-Linked Adrenal Hypoplasia Congenita
Pseudo-hypertriglyceridaemia or hyperglycerolemia?
Recurrent anorexia and pigmentation of skin for more than two months in an infant
Recurrent Vomiting in a 4-Year-Old Boy
Report: central diabetes insipidus and schwannoma in a male with X-linked congenital adrenal hypoplasia
Rice endosperm protein slows progression of fatty liver and diabetic nephropathy in Zucker diabetic fatty rats
SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7
Single-Exon Deletions of ZNRF3 Exon 2 Cause Congenital Adrenal Hypoplasia
Successful treatment of psoriatic arthritis associated with adrenal hypoplasia congenita using infliximab
Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita
Testicular steroidogenic cells to the rescue
Using high-dose omega-3 fatty acid supplements to lower triglyceride levels in 10- to 19-year-olds
X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene
X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1 (DAX1): a case report
X-linked Adrenal Hypoplasia Congenita Due to NR0B1 (DAX1) Deficiency Presenting as Severe Respiratory Distress in Near Term Infants
X-Linked Adrenal Hypoplasia Congenita in a Boy due to a Novel Deletion of the Entire NR0B1 (DAX1) and MAGEB1-4 Genes
X-linked adrenal hypoplasia congenita: a case report and ethical dilemma
X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation
X-linked adrenal hypoplasia congenita: Novel missense mutation of DAX-1 gene
X-linked congenital adrenal dysplasia with hypogonadotropic hypogonadism: a case report
X-linked Congenital Adrenal Hypoplasia with a Novel NR0B1/DAX Gene Mutation
X-linked congenital adrenal hypoplasia: a case presentation
X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene
Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature
Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature