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Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients.

Abstract

Background Prader-Willi syndrome (PWS) is a genetic disorder due to loss of expression of paternally transcribed genes of the imprinted region of chromosome 15q11-13. PWS is characterized by peculiar signs and symptoms and many endocrine abnormalities have been described (growth hormone deficiency, hypogonadotropic hypogonadism). The abnormalities of thyroid function are discussed in literature and published data are discordant. The aim of our study was to report the thyroid function in patients with PWS to identify the prevalence of thyroid dysfunction. Methods Thyroid function tests were carried out in 339 patients with PWS, aged from 0.2 to 50 years. A database was created to collect personal data, anthropometric data, thyroid function data and possible replacement therapy with L-thyroxine. Subjects were classified according to thyroid function as: euthyroidism (EuT), congenital hypothyroidism (C-HT), hypothyroidism (HT - high thyroid-stimulating hormone [TSH] and low free thyroxine [fT4]), central hypothyroidism (CE-H - low/normal TSH and low fT4), subclinical hypothyroidism (SH - high TSH and normal fT4), and hyperthyroidism (HyperT - low TSH and high fT4). Results Two hundred and forty-three out of 339 PWS patients were younger than 18 years (71.7%). The prevalence of thyroid dysfunction was 13.6%. Specifically, C-HT was found in four children (1.18%), HT in six patients (1.77%), CE-H in 23 patients (6.78%), SH in 13 patients (3.83%), and HyperT in none. All other subjects were in EuT (86.4%). Conclusions Hypothyroidism is a frequent feature in subjects with PWS. Thyroid function should be regularly investigated in all PWS patients both at the diagnosis and annually during follow-up.

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  • Authors+Show Affiliations

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    Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.

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    Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.

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    Department of Pediatrics, University of Bologna, Bologna, Italy.

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    Department of Pediatrics, Regina Margherita Children's Hospital, Turin, Italy.

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    Autoimmune Endocrine Diseases Unit, Bambino Gesù Children's Hospital, Research Institute, Rome, Italy.

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    Pediatric Unit, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo (Foggia), Italy.

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    Department of Pediatrics, Civic Hospital, Treviglio (Bergamo), Italy.

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    Department of Pediatrics, University of Padova, Padova, Italy.

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    Division of Auxology, Istituto Auxologico Italiano - IRCCS, Piancavallo (Verbania), Italy.

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    Genetics Unit, Mauro Baschirotto Institute for Rare Diseases-B.I.R.D. Foundation, Costozza di Longare (Vicenza), Italy.

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    Department of Pediatrics, University of Brescia, Brescia, Italy.

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    Department of Pediatric Endocrinology, Oasi Maria SS, Research Institute, Troina (Enna), Italy.

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    Department of Pediatrics, University of Insubria, Varese, Italy.

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    Department of Pediatrics, University of Messina, Messina, Italy.

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    Department of Pediatrics, Vita Salute San Raffaele University, San Raffaele Scientific Institute, Milan, Italy.

    Department of Medical and Surgical Sciences of Mother, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.

    Source

    MeSH

    Adolescent
    Adult
    Biomarkers
    Child
    Child, Preschool
    Cross-Sectional Studies
    Female
    Follow-Up Studies
    Humans
    Hypothyroidism
    Infant
    Male
    Middle Aged
    Prader-Willi Syndrome
    Prognosis
    Thyroid Function Tests
    Thyroid Hormones
    Young Adult

    Pub Type(s)

    Journal Article
    Multicenter Study

    Language

    eng

    PubMed ID

    30703060

    Citation

    Iughetti, Lorenzo, et al. "Thyroid Function in Patients With Prader-Willi Syndrome: an Italian Multicenter Study of 339 Patients." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 32, no. 2, 2019, pp. 159-165.
    Iughetti L, Vivi G, Balsamo A, et al. Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients. J Pediatr Endocrinol Metab. 2019;32(2):159-165.
    Iughetti, L., Vivi, G., Balsamo, A., Corrias, A., Crinò, A., Delvecchio, M., ... Predieri, B. (2019). Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients. Journal of Pediatric Endocrinology & Metabolism : JPEM, 32(2), pp. 159-165. doi:10.1515/jpem-2018-0388.
    Iughetti L, et al. Thyroid Function in Patients With Prader-Willi Syndrome: an Italian Multicenter Study of 339 Patients. J Pediatr Endocrinol Metab. 2019 Feb 25;32(2):159-165. PubMed PMID: 30703060.
    * Article titles in AMA citation format should be in sentence-case
    TY - JOUR T1 - Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients. AU - Iughetti,Lorenzo, AU - Vivi,Giulia, AU - Balsamo,Antonio, AU - Corrias,Andrea, AU - Crinò,Antonino, AU - Delvecchio,Maurizio, AU - Gargantini,Luigi, AU - Greggio,Nella Augusta, AU - Grugni,Graziano, AU - Hladnik,Uros, AU - Pilotta,Alba, AU - Ragusa,Letizia, AU - Salvatoni,Alessandro, AU - Wasniewska,Malgorzata, AU - Weber,Giovanna, AU - Predieri,Barbara, PY - 2018/09/05/received PY - 2018/11/25/accepted PY - 2019/2/1/pubmed PY - 2019/6/14/medline PY - 2019/2/1/entrez KW - Prader-Willi syndrome KW - congenital hypothyroidism KW - hypothyroidism KW - obesity KW - thyroid SP - 159 EP - 165 JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J. Pediatr. Endocrinol. Metab. VL - 32 IS - 2 N2 - Background Prader-Willi syndrome (PWS) is a genetic disorder due to loss of expression of paternally transcribed genes of the imprinted region of chromosome 15q11-13. PWS is characterized by peculiar signs and symptoms and many endocrine abnormalities have been described (growth hormone deficiency, hypogonadotropic hypogonadism). The abnormalities of thyroid function are discussed in literature and published data are discordant. The aim of our study was to report the thyroid function in patients with PWS to identify the prevalence of thyroid dysfunction. Methods Thyroid function tests were carried out in 339 patients with PWS, aged from 0.2 to 50 years. A database was created to collect personal data, anthropometric data, thyroid function data and possible replacement therapy with L-thyroxine. Subjects were classified according to thyroid function as: euthyroidism (EuT), congenital hypothyroidism (C-HT), hypothyroidism (HT - high thyroid-stimulating hormone [TSH] and low free thyroxine [fT4]), central hypothyroidism (CE-H - low/normal TSH and low fT4), subclinical hypothyroidism (SH - high TSH and normal fT4), and hyperthyroidism (HyperT - low TSH and high fT4). Results Two hundred and forty-three out of 339 PWS patients were younger than 18 years (71.7%). The prevalence of thyroid dysfunction was 13.6%. Specifically, C-HT was found in four children (1.18%), HT in six patients (1.77%), CE-H in 23 patients (6.78%), SH in 13 patients (3.83%), and HyperT in none. All other subjects were in EuT (86.4%). Conclusions Hypothyroidism is a frequent feature in subjects with PWS. Thyroid function should be regularly investigated in all PWS patients both at the diagnosis and annually during follow-up. SN - 2191-0251 UR - https://www.unboundmedicine.com/medline/citation/30703060/Thyroid_function_in_patients_with_Prader-Willi_syndrome:_an_Italian_multicenter_study_of_339_patients L2 - https://www.degruyter.com/doi/10.1515/jpem-2018-0388 DB - PRIME DP - Unbound Medicine ER -