Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center

Ramos, Luciano; Kizys, Marina M. L.; Kunii, Ilda S.; Spinola-Castro, Ângela Maria; Nesi-França, Suzana; Guerra, Ricardo Ayello; Camacho, Cleber; Martins, João Roberto Maciel; Maciel, Rui M. B.; Silva, Magnus R. Dias da; Chiamolera, Maria Izabel

doi:10.1007/s12020-018-1673-6

Cited by 9 publications

(14 citation statements)

References 32 publications

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“…Dieu et al obtained mutation in THRB in 26 % of cases (15/58), while it is the cause that was evident in all our patients and the most frequent cause in the literature [25,26]. Furthermore, they found biological interference due to a thyroid hormone serum transport protein variant in 24 % (14/58).…”

Section: Discussionmentioning

confidence: 56%

“…RTH should be suspected in both adults and children with elevated thyroid hormone and not suppressed TSH [27], so we could diagnose adults due to diagnostic in children, as it occurred in our family cases. It is interesting that higher serum TSH levels in RTHβ patients have been described when compared to those without mutations in beta isoform of the thyroid hormone receptor, but this difference did not extend to free T4 level [26].…”

Section: Discussionmentioning

confidence: 92%

“…Xiao et al also included somatostatin suppression test, electrocardiography (ECG), thyroid ultrasonography, magnet resonance imaging (MRI) of the sellar region, vision and hearing at diagnosis [18]. The reason for this is differential diagnoses with TSH-producing pituitary adenoma (TPA) and Familial Dysalbuminemic Hypertyrosinemia (FDH) [26], and that is why we decided to perform an MRI in some of our cases.…”

Section: Discussionmentioning

confidence: 99%

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Thyroid Hormone Resistance: Multicentrical Case Series Study

Mata¹,

Jiménez

Lopez³

et al. 2022

Horm Metab Res

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Resistance to thyroid hormone syndrome (RTHS) is defined as increased thyroxine and triiodothyronine associated with normal or increased thyrotropin. This is usually due to a pathogenic variant of the gene coding for thyroid hormone receptor B (THRB). THRB is a rare genetic disorder characterized by an altered response of target tissue to the thyroid hormone action. Retrospective cross-sectional observational study with diagnosis of RTHS evaluated in secondary and tertiary hospitals for 6 years, from 2014 to 2020, in order to describe variables including age, sex, anthropometric data, clinical and biochemical characteristics of patients, who were divided according to age, in a pediatric group from 0 to 14 years (index cases), and an adult group composed of adult relatives of index cases. A molecular analysis of the THRB gene was performed. The total retrospective cohort included 7 pediatric patients and 15 adults. We found 22 cases with a clear male predominance (14/22). Mean age is 24.8 years old (22 days-70 years). Patients were referred because of symptoms 18.2% (4/22), analysis results 22.7% (5/22), or familial study 59.1% (13/22). About 31.8% (7/22) cases show goiter, 31.8% (7/22) sympathetic symptoms and 13.6% (3/22) abnormalities in behavior. In most cases, 77.3%, (17/22) show familial background of thyroid abnormalities. It is important to remark that 18.2% (4/22) relatives received previous incorrect treatments such as thyroidectomy, because of wrong diagnosis. In conclusion, a better understanding of RTHS, its prompt molecular diagnosis and genetic counseling, could avoid unnecessary tests and inappropriate treatments.

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Section: Discussionmentioning

confidence: 56%

Section: Discussionmentioning

confidence: 92%

Section: Discussionmentioning

confidence: 99%

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Thyroid Hormone Resistance: Multicentrical Case Series Study

Mata¹,

Jiménez

Lopez³

et al. 2022

Horm Metab Res

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“…For the diagnosis it is necessary to perform a molecular analysis. Based on some experiences among the forms without alteration of the beta receptor gene, those with albumin gene (ALB) mutation are most frequently found [ 44 ].…”

Section: Introductionmentioning

confidence: 99%

Developments in pediatrics in 2020: choices in allergy, autoinflammatory disorders, critical care, endocrinology, genetics, infectious diseases, microbiota, neonatology, neurology, nutrition, ortopedics, respiratory tract illnesses and rheumatology

et al. 2021

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“…Various codon mutations of the albumin gene result in abnormal human serum albumin (HSA) with increased binding affinity to thyroxine (T4) and/or triiodothyronine (T3), named as FDH-T4 and FDH-T3, respectively [5, 10]. The first reported mutation identified by Sunthornthepvarakul et al [11] in 1994 was an arginine-to-histidine substitution at the residue 218 (R218H) of albumin (R242H if with the sequence of its signal peptide), and so far, the mutation is the most common type reported in FDH families from Caucasians [12], Hispanic/Puerto Rican [13], Brazilian [14], and Chinese [15–18]. The mutation leads to modestly increased serum TT4 and lightly increased TT3 [12–18].…”

Section: Introductionmentioning

confidence: 99%

A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia

Liu

Ran

Chen

et al. 2019

International Journal of Endocrinology

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Objective. Familial dysalbuminemic hyperthyroxinemia (FDH) has now become an established cause for spurious asymptomatic hyperthyroxinemia. Several different codon mutations on albumin gene had been identified. We here provided an established but rarely reported heterozygous mutation based on gene sequencing results from a Chinese family. Methods. The proband is a 14-year-old girl with light goiter and asymptomatic clinical presentations, whose thyroid function test by a one-step immunoassay showed increased free thyroxine (FT4) and free triiodothyronine (FT3) but nonsuppressed thyrotropin (TSH). All thyroid auto-antibodies were in the normal range. Blood samples were collected from her and most of her immediate family members for target gene sequencing and verification. Results. Hyperthyroxinemia was also confirmed in the proband’s mother and one of her uncles and his son. In the proband and these three pedigrees, the high-throughput gene screening sequencing and the following Sanger sequencing disclosed a heterozygous mutation in the albumin gene, which located in its exon 7 (c.725G > A), and correspondingly leads to an arginine replacement with a histidine (R242H) in its protein. This is an established mutation named as R218H if present without signal peptide sequence. Conclusions. For patients with asymptomatic hyperthyroxinemia, FDH should be clinically excluded before embarking on further investigations for other specific causes.

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Assessing the clinical and molecular diagnosis of inherited forms of impaired sensitivity to thyroid hormone from a single tertiary center

Abstract: In the present series, most cases were RTHβ with higher levels of TSH. We described three novel mutations in THRB (p.M313V, p.R320G and p.R438P) and the first patients with FDH molecular diagnosis (p.R242H) documented in Brazil.

Cited by 9 publications

References 32 publications

Thyroid Hormone Resistance: Multicentrical Case Series Study

Thyroid Hormone Resistance: Multicentrical Case Series Study

Developments in pediatrics in 2020: choices in allergy, autoinflammatory disorders, critical care, endocrinology, genetics, infectious diseases, microbiota, neonatology, neurology, nutrition, ortopedics, respiratory tract illnesses and rheumatology

A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia

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