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

Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16).

Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2012

Secchi Luciana A de A, Mazzeu Juliana F, Córdoba Mara Santos, Ferrari Iris, Ramos Helton Estrela, Neves Francisco de Assis Rocha

Abstract excerpt

Genetic defects resulting in deficiency of thyroid hormone synthesis can be found in about 10% of the patients with permanent congenital hypothyroidism, but the identification of genetic abnormalities in association with the transient form of the disease is extremely rare. We report the case of a boy with transient neonatal hypothyroidism that was undiagnosed in the neonatal screening, associated with...

Read the complete abstract on PubMed

Topics

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

Share to Intellectual Disability
Share to Karyotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Congenital Hypothyroidism

Share to Phenotype

Share to Translocation, Genetic

Source

Identifiers

PMID: 23295299
DOI: 10.1590/s0004-27302012000800017

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Transient neonatal hypothyroidism in a boy with unbalanced translocation t(8;16).PMID 23295299Read ↗

Prenatal diagnosis and molecular cytogenetic characterisation of a small de novo interstitial duplication 16q11.2-q13.Semantic proximity Read ↗

A novel homozygous mutation p.E88K in maternal SLC30A2 gene as a cause of transient neonatal zinc deficiency.Semantic proximity Read ↗

Novel duplication on chromosome 16 (q12.1-q21) associated with behavioral disorder, mild cognitive impairment, speech delay, and dysmorphic features: case report.Semantic proximity Read ↗

Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literatureSemantic proximity Read ↗

Transient neonatal diabetes mellitus type 1.Semantic proximity Read ↗

De novo unbalanced translocation (4p duplication/8p deletion) in a patient with autism, OCD, and overgrowth syndrome.Semantic proximity Read ↗

Unusual clinical presentation and possible rescue of a novel claudin-16 mutation.Semantic proximity Read ↗

TRPV6 Gene Mutation in a Dizygous Twin With Transient Neonatal HyperparathyroidismSemantic proximity Read ↗

Transient neonatal zinc deficiency due to a new autosomal dominant mutation in gene SLC30A2 (ZnT-2).Semantic proximity Read ↗

Anisomastia Associated with Interstitial Duplication of Chromosome 16, Mental Retardation, Obesity, Dysmorphic Facies, and Digital Anomalies: Molecular Mapping of a New Syndrome by Fluorescent in Situ Hybridization and Microsatellites to 16q13 (D16S419-D16S503)*Semantic proximity Read ↗

A novel MAGED2 variant in a Chinese preterm newborn with transient antenatal Bartter's syndrome with 4 years follow-up.Semantic proximity Read ↗

Transient leukemia in a newborn without Down syndrome: case report and review of the literature.Semantic proximity Read ↗

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