[Neonatal screening for congenital hypothyroidism].

Med Sci (Paris)

AP-HP Nord, Université de Paris, Hôpital universitaire Robert Debré, Service d'endocrinologie diabétologie pédiatrique, Centre de référence des maladies endocriniennes rares de la croissance et du développement, Inserm NeuroDiderot UMR 1141, 48 boulevard Sérurier, 75019, Paris, France.

Published: May 2021

Congenital hypothyroidism (CH) is the leading cause of preventable mental retardation. It is mainly due to thyroid dysgenesis or dyshormonogenesis with normally located gland, and detected at birth in developed countries by systematic neonatal screening. The early treatment of patients with CH has successfully improved the prognosis and management of this disease. An increase in the incidence of congenital hypothyroidism with a normally located gland has been reported worldwide over the last three decades. The etiology of CH with a normally located gland remains elusive and about half of them demonstrate spontaneous resolution of CH within a few months (transient CH). They highlight the need to reevaluate thyroid function during follow-up.

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/2021058DOI Listing

Publication Analysis

Top Keywords

located gland
12
congenital hypothyroidism
8
[neonatal screening
4
screening congenital
4
congenital hypothyroidism]
4
hypothyroidism] congenital
4
hypothyroidism leading
4
leading preventable
4
preventable mental
4
mental retardation
4

Similar Publications

Ectopic thyroid tissue in the airway: a case report.

BMC Pulm Med

January 2025

Department of Respiratory Medicine, The Second Hospital of Jilin University, No. 4026 Yatai street, Changchun, 130041, Jilin, China.

Background: Ectopic thyroid tissue (ETT) is a rare congenital anomaly caused by the abnormal embryonic migration of thyroid tissue, leading to its presence outside its usual pretracheal location. This condition can lead to diagnostic challenges, especially when located within the airway, as it mimics other respiratory disorders such as asthma.

Case Presentation: We report the case of a 69-year-old man with endotracheal ETT presenting with severe dyspnea, and the lesion was initially suspected to be malignant.

View Article and Find Full Text PDF

A subgroup of patients with acute depression show an impaired regulation of the hypothalamic-pituitary-adrenocortical axis, which can be sensitively diagnosed with the combined dexamethasone (dex)/corticotropin releasing hormone (CRH)-test. This neuropathological alteration is assumed to be a result of hyperactive AVP/V1b signalling. Given the complicated procedure of the dex/CRH-test, this study aimed to develop a genetic variants-based alternative approach to predict the outcome of the dex/CRH-test in acute depression.

View Article and Find Full Text PDF

Objective: An accurate fine-needle aspiration (FNA) diagnosis of adrenal lesions may be challenging. This study was to investigate roles of imaging guidance, rapid on-site evaluation (ROSE) and additional tissue sampling in FNA diagnosis of adrenal lesions.

Methods: Adrenal FNA cases were retrieved from pathology archive.

View Article and Find Full Text PDF

Epidemiology, diagnosis and treatment of anterior prostate cancer.

Nat Rev Urol

January 2025

Department of Urology, Guy's and St Thomas' NHS Foundation Trust, London, UK.

Anterior prostate cancers (APCs) are a group of impalpable neoplasms located in regions anterior to the urethra, which comprise the transition zone, apical peripheral zone and anterior fibromuscular stroma. These regions are typically undersampled using conventional biopsy schemes, leading to a low detection rate for APC and a high rate of false negatives. Radical prostatectomy series suggest prevalence rates of at least 10-30%, but transperineal systematic biopsy is ideal for diagnosis, particularly where multiparametric MRI is unavailable.

View Article and Find Full Text PDF

Advances in lacrimal gland organoid development: Techniques and therapeutic applications.

Biomed Pharmacother

January 2025

Department of Stem Cell and Regenerative Biotechnology, School of Advanced Biotechnology, Molecular & Cellular Reprogramming Center, Institute of Advanced Regenerative Science, and Institute of Health, Aging & Society, Konkuk University, 120 Neungdong-ro Gwangjin-gu, Seoul 05029, Republic of Korea; R&D Team, StemExOne Co., Ltd., Seoul, Republic of Korea. Electronic address:

The human lacrimal gland (LG), located above the outer orbital region within the frontal bone socket, is essential in maintaining eye surface health and lubrication. It is firmly anchored to the orbital periosteum by the connective tissue, and it is vital for protecting and lubricating the eye by secreting lacrimal fluid. Disruption in the production, composition, or secretion of lacrimal fluid can lead to dry eye syndrome, a condition characterized by ocular discomfort and potential eye surface damage.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!