Thyroid Hormone Resistance: A 17-Year Follow-up Case Report.

Refetoff syndrome Resistance to thyroid hormone case report complications follow-up symptoms

Journal

Endocrine, metabolic & immune disorders drug targets
ISSN: 2212-3873
Titre abrégé: Endocr Metab Immune Disord Drug Targets
Pays: United Arab Emirates
ID NLM: 101269157

Informations de publication

Date de publication:
26 Aug 2024
Historique:
received: 10 05 2024
revised: 29 07 2024
accepted: 30 07 2024
medline: 28 8 2024
pubmed: 28 8 2024
entrez: 28 8 2024
Statut: aheadofprint

Résumé

Resistance to thyroid hormone is a rare syndrome characterized by peripheral resistance to thyroid hormones. It is caused by genetic dysfunction of thyroid receptor genes, with Thyroid hormone Receptor-beta (TRβ) being the most prevalent. Affected patients show high thyroid hormone levels and non-suppressed Thyroid-stimulating Hormone (TSH). Syndrome manifestations vary from hyperthyroidism to hypothyroidism depending on the specific mutation. We, herein, describe the case of a 24-year-old female with a diagnosis of resistance to thyroid hormone from the age of 7. The main symptoms the patients complained about were headaches, palpitations, hyperidrosis, and frequent evacuations with severe underweight. The patient's blood test showed high FT3 and FT4 levels with a non-suppressed TSH. We performed a disease complications screening that revealed mild osteoporosis and normal cardiac activity (the patient was already treated with bisoprolol). This case illustrates symptoms and complications of resistance to thyroid hormone syndrome, a rare and misdiagnosed condition. In this case report, we describe and explain longterm disease symptoms and their management. The long-term history of our patient's disease adds a more comprehensive evaluation of the syndrome and its consequences, contributing to new insights into the resistance to thyroid hormone syndrome and shedding light on personalized management of its manifestations.

Sections du résumé

BACKGROUND BACKGROUND
Resistance to thyroid hormone is a rare syndrome characterized by peripheral resistance to thyroid hormones. It is caused by genetic dysfunction of thyroid receptor genes, with Thyroid hormone Receptor-beta (TRβ) being the most prevalent. Affected patients show high thyroid hormone levels and non-suppressed Thyroid-stimulating Hormone (TSH). Syndrome manifestations vary from hyperthyroidism to hypothyroidism depending on the specific mutation.
CASE PRESENTATION METHODS
We, herein, describe the case of a 24-year-old female with a diagnosis of resistance to thyroid hormone from the age of 7. The main symptoms the patients complained about were headaches, palpitations, hyperidrosis, and frequent evacuations with severe underweight. The patient's blood test showed high FT3 and FT4 levels with a non-suppressed TSH. We performed a disease complications screening that revealed mild osteoporosis and normal cardiac activity (the patient was already treated with bisoprolol).
CONCLUSION CONCLUSIONS
This case illustrates symptoms and complications of resistance to thyroid hormone syndrome, a rare and misdiagnosed condition. In this case report, we describe and explain longterm disease symptoms and their management. The long-term history of our patient's disease adds a more comprehensive evaluation of the syndrome and its consequences, contributing to new insights into the resistance to thyroid hormone syndrome and shedding light on personalized management of its manifestations.

Identifiants

DOI: 10.2174/0118715303329834240815193640 PMID: 39192655
pubmed: 39192655
pii: EMIDDT-EPUB-142505
doi: 10.2174/0118715303329834240815193640
doi:

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.net.

Auteurs

Cristina Giusto (C)

Division of Endocrinology and Diabetes, CTO Andrea Alesini Hospital, Department of Biomedicine and Prevention, University Tor Vergata, 00133, Rome, Italy.

Marina Passeri (M)

Division of Endocrinology and Diabetes, CTO Andrea Alesini Hospital, Department of Biomedicine and Prevention, University Tor Vergata, 00133, Rome, Italy.

Patrizia Sperti (P)

Division of Endocrinology and Diabetes, CTO Andrea Alesini Hospital, Department of Biomedicine and Prevention, University Tor Vergata, 00133, Rome, Italy.

Isabella Nardone (I)

University of Rome Tor Vergata Department of Biomedicine and Prevention Rome Italy.
PhD School of Applied Medical-Surgical Sciences, University of Rome Tor Vergata, 00133, Rome, Italy.

Sium Wolde Sellasie (S)

University of Rome Tor Vergata Department of Biomedicine and Prevention Rome Italy.
PhD School of Applied Medical-Surgical Sciences, University of Rome Tor Vergata, 00133, Rome, Italy.

Simona Zaccaria (S)

University of Rome Tor Vergata Department of Biomedicine and Prevention Rome Italy.
PhD School of Applied Medical-Surgical Sciences, University of Rome Tor Vergata, 00133, Rome, Italy.

Lucia Longo (L)

Division of Endocrinology and Diabetes, CTO Andrea Alesini Hospital, Department of Biomedicine and Prevention, University Tor Vergata, 00133, Rome, Italy.

Pietro Lo Deserto (P)

Division of Endocrinology and Diabetes, CTO Andrea Alesini Hospital, Department of Biomedicine and Prevention, University Tor Vergata, 00133, Rome, Italy.

Stefano Amendola (S)

Division of Endocrinology and Diabetes, CTO Andrea Alesini Hospital, Department of Biomedicine and Prevention, University Tor Vergata, 00133, Rome, Italy.

Luigi Uccioli (L)

Division of Endocrinology and Diabetes, CTO Andrea Alesini Hospital, Department of Biomedicine and Prevention, University Tor Vergata, 00133, Rome, Italy.

Classifications MeSH