Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Nov 2014

Ali Johari Mohd, Jalaludin Muhammad Yazid, Harun Fatimah

Abstract excerpt

We report a novel NR0B1 mutation in a patient affected with X-linked adrenal hypoplasia congenita (X-AHC). The proband first presented with a generalized convulsion at 11 years, 4 months. His clinical and biochemical presentations were consistent with adrenal insufficiency. His basal 17-hydroxyprogesterone (17-OHP) level was not high, and the poor response in 17-OHP on ACTH stimulation test excluded congenital...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 17-alpha-Hydroxyprogesterone
Share to Adrenal Hyperplasia, Congenital

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Adrenal Insufficiency

Share to Age of Onset

Share to DAX-1 Orphan Nuclear Receptor

Share to Genetic Diseases, X-Linked

Share to Hypogonadism

Share to Sequence Deletion

Source

Identifiers

PMID: 25003377
DOI: 10.1515/jpem-2014-0161

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Late onset X-linked adrenal hypoplasia congenita with hypogonadotropic hypgonadism due to a novel 4-bp deletion in exon 2 of NR0B1.PMID 25003377Read ↗

X-linked adrenal hypoplasia congenita: clinical and follow-up findings of two kindreds, one with a novel NR0B1 mutation.Semantic proximity Read ↗

Neglected Adrenal Hypoplasia Congenita in Two Siblings with Novel Genetic Mutations in NR0B1 Gene and Notable Clinical Course: A Case Report.Semantic proximity Read ↗

Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation.Semantic proximity Read ↗

[A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia].Semantic proximity Read ↗

NR0B1 Gene Variants as Rare Forms of Primary Adrenal Insufficiency in Children: Case Report and Narrative Review.Semantic proximity Read ↗

A novel DAX1/NR0B1 mutation in a patient with adrenal hypoplasia congenita and hypogonadotropic hypogonadism.Semantic proximity Read ↗

Late-onset X-linked adrenal hypoplasia (DAX-1, NR0B1): two new adult-onset cases from a single center.Semantic proximity Read ↗

A Novel NR0B1 Gene Mutation Causes Different Phenotypes in Two Male Patients with Congenital Adrenal Hypoplasia.Semantic proximity Read ↗

A novel mutation in the NR0B1 gene in a family with monozygotic twin sisters and congenital adrenal hypoplasia affected children.Semantic proximity Read ↗

Novel non-stop variant of the NR0B1 gene in two siblings with adrenal hypoplasia congenita.Semantic proximity Read ↗

Adrenal Hypoplasia Congenita-Hypogonadotropic Hypogonadism Syndrome Due to NR0B1 Gene Mutations.Semantic proximity Read ↗

Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to <i>NR0B1</i> gene mutationsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.