A Family with Complete Resistance to Thyrotropin-Releasing Hormone

Bonomi, Marco; Busnelli, Marta; Beck‐Peccoz, Paolo; Costanzo, Daniela; Antonica, Francesco; Dolci, Claudia; Pilotta, Alba; Buzi, Fabio; Persani, Luca

doi:10.1056/nejmc0808557

Cited by 109 publications

(89 citation statements)

References 5 publications

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“…Characteristics of ten patients with CH-C categorized into isolated CH-C (group I; patients [15][16][17][18][19][20][21][22] and those with undetermined pituitary involvement (group U; patients 23 and 24). CH-C in Kanagawa prefecture as 1 in 30 833 births (24/740 003).…”

Section: Tablementioning

confidence: 99%

Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper

Adachi

Soneda

Asakura

et al. 2012

European Journal of Endocrinology

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Objective: To evaluate the effectiveness of mass screening of newborns for congenital hypothyroidism of central origin (CH-C) by measurement of free thyroxine (FT 4 ) and thyroid-stimulating hormone (TSH). Design: Questionnaire-based survey of CH-C patients born between 1999 and 2008 in Kanagawa prefecture, Japan. Methods: TSH and FT 4 levels in dried blood spots on filter paper were measured using ELISA kits, and CH-C was diagnosed at FT 4 levels below a cutoff of 0.7 ng/dl (9.0 pmol/l). Survey results were collated with the database created by the screening organizer.

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Section: Tablementioning

confidence: 99%

Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper

Adachi

Soneda

Asakura

et al. 2012

European Journal of Endocrinology

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“…After amplification, PCR products were purified and sequenced directly with an ABI PRISM Dye Terminator Cycle Kit and an ABI 373A automated fluorescent sequencer (PE Applied Biosystems, Foster City, CA). In addition to IGSF1, TRHR was also sequenced according to a reported study [9].…”

Section: Sequence Analysis Of Igsf1mentioning

confidence: 99%

“…Isolated C-CH remains a rare disease and is due mainly to genetic deficit of the β-subunit of TSH (OMIM 188540) or the thyrotropin-releasing hormone (TRH) receptor (OMIM 188545) mutations [4][5][6][7][8][9]. Most recently, mutations and deletions of human immunoglobulin superfamily gene 1 (IGSF1) have been reported in X-linked C-CH [10].…”

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confidence: 99%

A novel mutation of <i>IGSF1</i> in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication]

2013

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Abstract. Congenital central hypothyroidism (C-CH) is a rare disease known to be caused by mutations of the genes encoding TSH β or the TRH receptor gene, although the cause of the disease in a number of patients has not yet been clarified. Recently, mutations and deletions of the immunoglobulin superfamily member 1 (IGSF1) gene have been reported to be the cause of C-CH. Here we report a Japanese male patient with C-CH due to a novel IGSF1 mutation. He was detected by neonatal mass screening of simultaneous TSH and free T4 measurements and levothyroxine was initiated. At 6 years of age he underwent 123 I scintigraphy after levothyroxine treatment had been discontinued for one month and his thyroid and pituitary function were evaluated. Since TSH and PRL responses after TRH stimulation were low, his diagnosis of C-CH was confirmed. During follow up, whereas onset of his puberty was delayed, his secondary sex characterization completed at 17 years old. In this patient we analyzed IGSF1 and TRHR. As results, we identified a novel insertion mutation in IGSF1 (c.3528-3529insC), resulting in a premature stop codon (p.Pro1082Trpfs39X). In conclusion, we identified a novel mutation of IGSF1 in a Japanese male patient with C-CH.

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“…The response is exquisitely sensitive to minor changes in the level of circulating thyroid hormones, and a direct correlation between basal serum TSH values and the maximal response to TRH has been observed even in the absence of thyroid hormone abnormalities, suggesting that there may be a fine modulation of pituitary sensitivity to TRH in the euthyroid state. [34][35][36] Figure 2. x-y Plots showing linear regression lines with 95% confidence limits between all original 4-hourly values of TRH versus TSH and TRH versus FT4 serum levels in 11 healthy participants and 9 small-cell lung cancer patients. No significant correlation was found for TSH versus TRH in either group (top panels), whereas FT4 versus TRH showed a positive correlation in controls (r = 0.36; slope = +0.46; P = .003) and a negative correlation in cancer patients (r = 0.49; slope = −0.38; P < .001)-bottom panels Abbreviations: TRH, thyrotropin-releasing hormone; TSH, thyroid-stimulating hormone; FT4, free thyroxine; IL-2, interleukin 2.…”

Section: Discussionmentioning

confidence: 99%

Alteration of Hypothalamic–Pituitary–Thyroid Axis Function in Non-Small-Cell Lung Cancer Patients

et al. 2011

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The aim of this study was to evaluate the hypothalamic-pituitary-thyroid (HPT) axis function in patients suffering from lung cancer. Thyrotropin-releasing hormone (TRH), thyroid-stimulating hormone (TSH), free thyroxine (FT4), interleukin (IL)-2, and melatonin serum levels were measured in blood samples collected every 4 hours for 24 hours from 11 healthy participants (H; ages 35-53 years) and 9 patients suffering from non-small-cell lung cancer (C; ages 43-63 years). Relationships between hormone levels overall and over time of day were evaluated within and among groups. A prominent circadian rhythm with peaks near midnight was present for TSH and melatonin serum levels in both H and C, indicating similar synchronization of the main body clock to the 24-hour environmental light-dark cycle. As regards 24-hour means in H and C, TSH was lower in C, whereas TRH, FT4, and IL-2 were higher in C, with no difference in melatonin levels. Simple linear regression, FT4 versus TRH, showed a positive correlation in H and a negative correlation in C, whereas FT4 versus TSH showed a negative correlation in both groups. For FT4 versus IL-2, a negative correlation was found in C but not for H, whereas TSH versus TRH showed no correlation for either group. Both groups were found to be similarly synchronized to the 24-hour sleep-wake schedule, but HPT axis function was altered in patients suffering from lung cancer. When compared with healthy controls, cancer patients showed modifications of hormone serum levels overall and a negative correlation between individual TRH and FT4 levels.

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A Family with Complete Resistance to Thyrotropin-Releasing Hormone

Abstract: 731pharmacologic vigilance, which will have an effect on how varenicline is used in future clinical practice.

Cited by 109 publications

References 5 publications

Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper

Mass screening of newborns for congenital hypothyroidism of central origin by free thyroxine measurement of blood samples on filter paper

A novel mutation of <i>IGSF1</i> in a Japanese patient of congenital central hypothyroidism without macroorchidism [Rapid Communication]

Alteration of Hypothalamic–Pituitary–Thyroid Axis Function in Non-Small-Cell Lung Cancer Patients

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