Thyroid dysplasia was recognized in WistarHan GALAS rats and confirmed as a heritable congenital disorder. The gene or genes involved were not identified, but homozygous animals with thyroid dysplasia also exhibited stunted growth, had reduced pituitary gland growth hormone (GH) and were hypothyroid. Heterozygous animals exhibited thyroid dysplasia with normal thyroid hormonal homeostasis and no difference in the incidence of preneoplastic or neoplastic lesions in oncogenicity studies.
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http://dx.doi.org/10.1293/tox.22.247 | DOI Listing |
Am J Perinatol
January 2025
Department of Pediatrics, Division of Neonatology, Oregon Health & Science University, Portland, United States.
Objective: To determine the prevalence of septo-optic-dysplasia (SOD) in patients with prenatally identified absent cavum septi pellucidi (CSP), agenesis of the corpus callosum (ACC) or dysgenesis of the corpus callosum (DCC).
Study Design: This retrospective chart review investigated neonates prenatally diagnosed with an absent CSP, ACC, or DCC who were admitted to a single quaternary academic medical center in the Pacific Northwest between 2016-2023. This prenatal diagnosis prompted a routine and protocolized postnatal workup for SOD including laboratory evaluation, imaging, and specialty consultation.
BMJ Case Rep
January 2025
Paediatrics, Bahrain Defence Force Royal Medical Services, Riffa, Bahrain.
This case report provides details of the first documented case of pituitary stalk interruption syndrome (PSIS) with coexistent focal cortical dysplasia (FCD) in a young boy. The child's initial presentation was an afebrile, generalised tonic-clonic seizure associated with postictal drowsiness. During his first episode, the physical examination revealed a short, obese child with a micropenis and left cryptorchidism.
View Article and Find Full Text PDFJ Med Ultrasound
January 2024
Department of Surgery, Queen Elizabeth II Hospital, Ministry of Health Malaysia, Kota Kinabalu, Sabah, Malaysia.
Thyroid hemiagenesis (THA) is a rare congenital abnormality in which one of the thyroid lobes fails to develop normally. The prevalence rates range from 0.02% to 0.
View Article and Find Full Text PDFJ Clin Endocrinol Metab
January 2025
IMAGINE Institute Affiliate, INSERM U1163, Paris, France.
Context: Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and is chiefly caused by thyroid dysgenesis (CHTD). The inheritance mode of the disease remains complex.
Objectives: Gain insight into the inheritance mode of CHTD.
J Clin Endocrinol Metab
January 2025
Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Palle-Juul Jensens Boulevard 165, 8200 Aarhus N, Denmark.
Context: Few studies have reported on males with 45,X/46,XY mosaicism. Most studies stem from pediatric settings and knowledge of natural history and long-term health outcomes are therefore lacking.
Objective: To describe long-term health outcomes in males with 45,X/46,XY in comparison to the general population.
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