Cited by 140Thyroid Disorders and TreatmentsPituitary Gland Disorders and TreatmentsAdrenal Hormones and Disorders

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Central hypothyroidism — a neglected thyroid disorder

Beck-Peccoz, Paolo, Rodari, Giulia, Giavoli, Claudia, Lania, Andrea·2017·Nature Reviews Endocrinology

DOI 10.1038/nrendo.2017.47

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Abstract

Central hypothyroidism is a rare and heterogeneous disorder that is characterized by a defect in thyroid hormone secretion in an otherwise normal thyroid gland due to insufficient stimulation by TSH. The disease results from the abnormal function of the pituitary gland, the hypothalamus, or both. Moreover, central hypothyroidism can be isolated or combined with other pituitary hormone deficiencies, which are mostly acquired and are rarely congenital. The clinical manifestations of central hypothyroidism are usually milder than those observed in primary hypothyroidism. Obtaining a positive diagnosis for central hypothyroidism can be difficult from both a clinical and a biochemical perspective. The diagnosis of central hypothyroidism is based on low circulating levels of free T 4 in the presence of low to normal TSH concentrations. The correct diagnosis of both acquired (also termed sporadic) and congenital (also termed genetic) central hypothyroidism can be hindered by methodological interference in free T 4 or TSH measurements; routine utilization of total T 4 or T 3 measurements; concurrent systemic illness that is characterized by low levels of free T 4 and normal TSH concentrations; the use of the sole TSH-reflex strategy, which is the measurement of the sole level of TSH, without free T 4, if levels of TSH are in the normal range; and the diagnosis of congenital hypothyroidism based on TSH analysis without the concomitant measurement of serum levels of T 4. In this Review, we discuss current knowledge of the causes of central hypothyroidism, emphasizing possible pitfalls in the diagnosis and treatment of this disorder.

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Hulle, S. V. et al. Delayed adrenarche may be an additional feature of immunoglobulin super family member 1 deficiency syndrome. J. Clin. Res. Pediatr. Endocrinol. 8, 86–91 (2016). · DOI

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See all 140

Authors: Beck-Peccoz, P., Rodari, G., Giavoli, C., & Lania, A.
Affiliations: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
Humanitas University (IT)
ORCID: Rodari, Giulia
Giavoli, Claudia
Lania, Andrea
Venue: Nature Reviews Endocrinology
Publisher: Springer Science and Business Media LLC
Published: 2017-05-26
Volume: 13
Issue: 10
Pages: 588-598
ISSN: 1759-5029 (ISSN-L)
1759-5037
DOI: 10.1038/nrendo.2017.47
OpenAlex: W2616986899
Cited by: 140
References: 140
Citations by year: 2026: 12 · 2025: 22 · 2024: 15 · 2023: 8 · 2022: 19 · 2021: 17 · 2020: 13 · 2019: 16 · 2018: 14 · 2017: 3
FWCI: 1.83
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Reviews Endocrinology (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Thyroid Disorders and Treatments
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pituitary Gland Disorders and Treatments
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Keywords: central hypothyroidism, TSH deficiency, pituitary dysfunction, hypothalamic dysfunction, free thyroxine, pituitary hormone deficiency, thyroid hormone secretion, treatment
MeSH terms: Female, Humans, Hypothalamus, Hypothyroidism, Male, Pituitary Gland, Thyroid Function Tests, Thyroid Gland, Thyroid Hormones, Thyroxine, Treatment Outcome, Risk Assessment, Rare Diseases, Neglected Diseases

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Central hypothyroidism — a neglected thyroid disorder

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