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

Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.

Clinical endocrinology - 1 Apr 2021

Karlekar Manjiri Pramod, Sarathi Vijaya, Lila Anurag, Rai Khushnandan, Arya Sneha, Bhandare Vishwambhar Vishnu, Atluri Sridevi, Patil Virendra, Ramteke-Jadhav Swati, Shah Nalini S, Kunwar Ambarish, Bandgar Tushar

Abstract excerpt

OBJECTIVE: To report clinical, hormonal and structural effects of CYP11B1 pathogenic variations in Indian patients with 11β-hydroxylase deficiency (11βOHD) and find hormonal criteria that accurately distinguish 11βOHD from 21α-hydroxylase deficiency (21OHD). DESIGN: Retrospective record review of genetically diagnosed patients with 11βOHD. PATIENTS AND MEASUREMENTS: Clinical features, hormonal parameters at...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Hyperplasia, Congenital
Share to Chromatography, Liquid

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Steroid 11-beta-Hydroxylase

Share to Steroids

Share to Tandem Mass Spectrometry

Source

Identifiers

PMID: 33275286
DOI: 10.1111/cen.14376

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

Expanding genetic spectrum and discriminatory role of steroid profiling by LC-MS/MS in 11β-hydroxylase deficiency.PMID 33275286Read ↗

Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency.Semantic proximity Read ↗

Rare types of congenital adrenal hyperplasia: report of five children with 11β-hydroxylase deficiency including pathogenic and novel CYP11B1 variants.Semantic proximity Read ↗

Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.Semantic proximity Read ↗

Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.Semantic proximity Read ↗

An overview of molecular diagnosis of steroid 21-hydroxylase deficiency.Semantic proximity Read ↗

Two rare forms of congenital adrenal hyperplasia, 11β hydroxylase deficiency and 17-hydroxylase/17,20-lyase deficiency, presenting with novel mutations.Semantic proximity Read ↗

Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.Semantic proximity Read ↗

Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.Semantic proximity Read ↗

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.Semantic proximity Read ↗

Three novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11Beta-hydroxylase deficiency in a moroccan population.Semantic proximity Read ↗

Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.Semantic proximity Read ↗

Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.Semantic proximity Read ↗

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