A combined form of hypothyroidism in pubertal patients with non-mosaic Klinefelter syndrome

Tahani, Natascia; Ruga, Gilda; Granato, S.; Spaziani, Matteo; Panimolle, Francesca; Anzuini, Antonella; Lenzi, Andrea; Radicioni, A.

doi:10.1007/s12020-016-1130-3

Cited by 11 publications

(10 citation statements)

References 18 publications

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“…FT4 was signi cantly lower in KS than in non-KS individuals, while TSH levels were similar. This nding was in line with previous studies suggesting subclinical hypothyroidism due to hypothalamic-pituitary dysfunction in KS [11,14]. No evidence of an etiopathogenetic link to hypogonadal status or to a change in the set point of thyrotropic control was found.…”

Section: Introductionsupporting

confidence: 93%

“…The FT3/FT4 ratio, which indicates peripheral impairment of thyroid hormone conversion and closely correlates with frail status, even in patients presenting free thyroid hormone levels within the reference range was also similar between KS patients and controls [21]. Despite these results and other previously published data, the underlying cause of low FT4 levels in KS remains unclear [1,11,14]. Interestingly, there are data showing that individuals with Down syndrome (DS) commonly have TSH levels in the higher normal range and T4 levels in the lower normal range [22][23][24].…”

Section: Discussionmentioning

confidence: 72%

“…The authors suggest that nontoxic nodular goiter is more frequent in 47XXY than in normal males. More recent data from the literature suggested involvement of hypothalamic-pituitary-thyroid axis dysregulation in adults and children with KS, with a shift toward lower values in the distribution of serum FT4 [1,11,14]. To verify this hypothesis, Balercia et al calculated TSH index, a method for quantitatively estimating the thyrotropic function of the anterior pituitary [19,20].…”

Section: Discussionmentioning

confidence: 99%

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Nodular thyroid disease and low FT4 levels in Klinefelter syndrome: an extension of the classical phenotype

Fraia

Espósito

Selvaggio

et al. 2023

Preprint

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Purpose: Thyroid dysfunction in patients with Klinefelter syndrome (KS) remains an unresolved issue. Although low free thyroxine (FT4) levels within the normal range and normal thyroid stimulating hormone (TSH) levels have been reported, there is currently no data on nodular thyroid disease in this population. This study aims to evaluate the results of thyroid ultrasound (US) examinations in KS patients compared with healthy controls. Methods: A cohort of 122 KS and 85 age-matched healthy male controls underwent thyroid US screening and thyroid hormone analysis. According to US risk-stratification systems, nodules ≥1 cm were examined by fine needle aspiration (FNA). Results: Thyroid US detected nodular thyroid disease in 31% of KS compared to 1.3% of controls. No statistical differences in the maximum diameter of the largest nodules and in moderate and highly suspicious nodules were found between patients and the control group. Six nodules underwent FNA and were confirmed as cytologically benign. In line with published data, FT4 levels were found significantly near the lower limit of the normal range compared to controls, with no differences in TSH values between the two groups. Hashimoto’s thyroiditis was diagnosed in 9% of patients. Conclusions: We observed a significantly higher prevalence of nodular thyroid disease in KS compared to the control group, but no increased risk of thyroid cancer. The increase in nodular thyroid disease is likely linked to low levels of FT4, inappropriate TSH secretion, and/or genetic instability. We suggest including a complete thyroid evaluation in the workup of KS.

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Section: Introductionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 72%

Section: Discussionmentioning

confidence: 99%

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Nodular thyroid disease and low FT4 levels in Klinefelter syndrome: an extension of the classical phenotype

Fraia

Espósito

Selvaggio

et al. 2023

Preprint

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“…Positive thyroid antibodies are found in 5.4-10% of children and 3.3-7% of adults with KS in different studies (103)(104)(105)(106). Most cases are euthyroid, whereas GD occurs only rarely in patients with the syndrome (107, 108) ( Table 1).…”

Section: Klinefelter Syndromementioning

confidence: 97%

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence

Kyritsi

Kanaka‐Gantenbein

2020

Front. Endocrinol.

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Autoimmune thyroid disease (ATD) is the most frequent cause of acquired thyroid dysfunction, most commonly presenting either as Hashimoto's thyroiditis or Graves' Disease. Hashimoto's thyroiditis is characterized by the presence of thyroid-specific autoantibodies, more commonly anti-thyroperoxidase antibodies in the serum and the typical inhomogeneous echostructure of the thyroid on a thyroid ultrasound examination. Hashimoto's thyroiditis can for a long time be accompanied by normal thyroid function and hypothyroidism can only progressively be established. Graves' disease is much less frequent in childhood and adolescence and presents with overt hyperthyroidism. After the onset of puberty, ATD affects females with a higher incidence than males, while during the prepubertal period there is not such a clear preponderance of affected females. ATD can occur either isolated or in the context of other autoimmune disorders, such as type 1 Diabetes mellitus (T1D), celiac disease, alopecia areata, vitiligo, etc. Especially at the pediatric age, a higher incidence of ATD is also observed in the context of specific genetic syndromes, such as trisomy 21 (Down syndrome), Klinefelter syndrome, Turner syndrome, or 22q11.2 deletion syndrome. Nevertheless, although thyroid dysfunction may also be observed in other genetic syndromes, such as Prader-Willi or Williams syndrome, the thyroid dysfunction in these syndromes is not the result of thyroid autoimmunity. Interestingly, there is emerging evidence supporting a possible link between autoimmunity and RASopathies. In this review article the incidence, as well as the clinical manifestation and accompanied pathologies of ATD in specific genetic syndromes will be presented and regular follow-up for the early identification of the disorder will be proposed.

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“…Various thyroid abnormalities, including a low response of serum TSH to a thyrotropinreleasing hormone (TRH) stimulation test [143,144], impaired production of thyroxine (T4) by the thyroid gland [102] and lower free triiodothyronine (fT3) serum levels [145], mainly in KS adults, but also in KS children, were described.…”

Section: Klinefelter Syndromementioning

confidence: 99%

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

Casto

Pepe

Pomi

et al. 2021

Genes

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Autoimmune thyroid diseases (AITDs), including Hashimoto’s thyroiditis (HT) and Graves’ disease (GD), are the most common cause of acquired thyroid disorder during childhood and adolescence. Our purpose was to assess the main features of AITDs when they occur in association with genetic syndromes. We conducted a systematic review of the literature, covering the last 20 years, through MEDLINE via PubMed and EMBASE databases, in order to identify studies focused on the relation between AITDs and genetic syndromes in children and adolescents. From the 1654 references initially identified, 90 articles were selected for our final evaluation. Turner syndrome, Down syndrome, Klinefelter syndrome, neurofibromatosis type 1, Noonan syndrome, 22q11.2 deletion syndrome, Prader–Willi syndrome, Williams syndrome and 18q deletion syndrome were evaluated. Our analysis confirmed that AITDs show peculiar phenotypic patterns when they occur in association with some genetic disorders, especially chromosomopathies. To improve clinical practice and healthcare in children and adolescents with genetic syndromes, an accurate screening and monitoring of thyroid function and autoimmunity should be performed. Furthermore, maintaining adequate thyroid hormone levels is important to avoid aggravating growth and cognitive deficits that are not infrequently present in the syndromes analyzed.

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A combined form of hypothyroidism in pubertal patients with non-mosaic Klinefelter syndrome

Cited by 11 publications

References 18 publications

Nodular thyroid disease and low FT4 levels in Klinefelter syndrome: an extension of the classical phenotype

Nodular thyroid disease and low FT4 levels in Klinefelter syndrome: an extension of the classical phenotype

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

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