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

A man with a DAX1/NR0B1 mutation, normal puberty, and an intact hypothalamic-pituitary-gonadal axis but deteriorating oligospermia during long-term follow-up.

European journal of endocrinology - 1 Apr 2013

Raffin-Sanson Marie-Laure, Oudet Bérénice, Salenave Sylvie, Brailly-Tabard Sylvie, Pehuet Martine, Christin-Maitre Sophie, Morel Yves, Young Jacques

Abstract excerpt

OBJECTIVE: DAX1/NR0B1 mutations cause primary adrenal insufficiency in early childhood and hypogonadotropic hypogonadism (HHG), leading to absent or incomplete sexual maturation. The aim of the study was to prospectively investigate gonadotrope and testicular functions in a patient carrying a DAX1 mutation, who had spontaneous puberty and normal virilization but oligospermia. CASE REPORT: The proband was referred...

Read the complete abstract on PubMed

Topics

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

Share to DAX-1 Orphan Nuclear Receptor
Share to Follow-Up Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hypothalamo-Hypophyseal System

Share to Oligospermia

Share to Pituitary-Adrenal System

Share to Puberty

Share to Testis

Share to Time Factors

Source

Identifiers

PMID: 23384712
DOI: 10.1530/EJE-12-1055

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A man with a DAX1/NR0B1 mutation, normal puberty, and an intact hypothalamic-pituitary-gonadal axis but deteriorating oligospermia during long-term follow-up.PMID 23384712Read ↗

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 ↗

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

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.Semantic proximity Read ↗

Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.Semantic proximity Read ↗

Hypogonadotropic hypogonadism in subjects with DAX1 mutations.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 ↗

Birth after TESE-ICSI in a man with hypogonadotropic hypogonadism and congenital adrenal hypoplasia linked to a DAX-1 (NR0B1) mutationSemantic proximity Read ↗

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.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 DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism.Semantic proximity Read ↗

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