Genetic testing of PAX8 mutations associated with thyroid dysgenesis in Chinese congenital hypothyroidism patients.

Abstract:

INTRODUCTION:Thyroid dysgenesis (TD) is the main cause of congenital hypothyroidism (CH), affecting nearly 1 in 2000-3000 newborns worldwide, as the most common neonatal endocrine disorder. Paired box gene 8 (PAX8), expressed during all stages of thyroid follicular cell, plays a key role in thyroid morphogenesis by a complex regulatory network. In conclusion, the genetic mechanism of PAX8 mutant in TD is still ambiguous; therefore, further research is needed. MATERIAL AND METHODS:Blood samples were collected from 289 TD patients in Shandong Province, China. Genomic DNA was extracted from peripheral blood. All the exons of PAX8 along with their exon-intro boundaries were amplified by PCR and analysed by Sanger sequencing. RESULTS:We identified three novel PAX8 nonsense mutations in three patients by sequence analysis of PAX8: Patient 1 (c.285C>G, p.Tyr95Ter), Patient 2 (c.747T>G, p.Tyr249Ter), and Patient 3 (c.786C>A, p.Tyr262Ter). All the three patients carrying PAX8 variants had obvious clinical phenotypes of thyroid anomaly, such as hypoplasia and athyreosis. CONCLUSION:We conducted the largest worldwide PAX8 mutation screening so far in TD patients. Three presumably pathogenic PAX8 mutations were detected in 289 TD cases for the first time, showing the mutation rate of PAX8 is 1.04% in Chinese TD patients. In addition, our study expands the gene mutation spectrum of TD.

journal_name

Endokrynol Pol

journal_title

Endokrynologia Polska

authors

Li M,Wang F,Wang X,Zang Y,Liu W,Wang F,Zhang L,Tang Q,Liu S,Zhao D

doi

10.5603/EP.a2020.0004

subject

Has Abstract

pub_date

2020-01-01 00:00:00

pages

153-159

issue

2

eissn

0423-104X

issn

2299-8306

pii

VM/OJS/J/66225

journal_volume

71

pub_type

杂志文章
  • Oncogenic osteomalacia should be considered in hypophosphatemia, bone pain and pathological fractures.

    abstract::The clinical manifestation of oncogenic osteomalacia includes bone pain, pathological fractures, general fatigue and muscle weakness. Such unspecific symptoms hinder the establishment of a proper diagnosis which very often requires long-lasting investigations with many diagnostic imaging methods. Here, we discuss di...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:

    authors: Kaniuka-Jakubowska S,Biernat W,Lewczuk A,Świątkowska-Stodulska R,Sworczak K

    更新日期:2012-01-01 00:00:00

  • List do Czytelników/Letter to Readers.

    abstract::Słowo wstępne do "Endokrynologia Polska" 69 (6) 2018. ...

    journal_title:Endokrynologia Polska

    pub_type: 信件

    doi:

    authors: Kos-Kudła B

    更新日期:2018-01-01 00:00:00

  • Sonographic fatty liver in overweight and obese children, a cross sectional study in Isfahan.

    abstract:INTRODUCTION:Children's obesity is a known health problem in the world and is a strong predictor of obesity in adulthood which increases the incidence of related diseases such as metabolic syndrome. According to the MONIKA project by the World Health Organization (WHO), Iran is one of the seven countries with a high ra...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:

    authors: Adibi A,Kelishadi R,Beihaghi A,Salehi H,Talaei M

    更新日期:2009-01-01 00:00:00

  • Autonomous functioning thyroid nodule - a rare paediatric diagnosis.

    abstract::Not required for Clinical Vignette. ...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:10.5603/EP.a2020.0071

    authors: Rey Y Formoso V,Salazar D,Fernandes S,Ferreira S,Estevinho N,Castro Correia C

    更新日期:2020-01-01 00:00:00

  • The safety and efficacy of biphasic insulin aspart 30 (BIAsp 30) in Iranians with type 2 diabetes: an open-label, non-randomised, multi-centre observational study--the Iran subgroup of the IMPROVE™ study.

    abstract:INTRODUCTION:To evaluate the clinical profile of BIAsp 30 (30% soluble insulin aspart, 70% protamine-crystallized insulin aspart) (NovoMix®)30) in type 2 diabetes patients in routine clinical practice in Iran. MATERIAL AND METHODS:IMPROVE™ was a 26-week, multinational, open-label, non-randomized study in patients with...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章,多中心研究

    doi:

    authors: Esteghamati A,Rajabian R,Amini M,Bahrami A,Khamseh ME,Afkhami-Ardekani M,Rizi EP

    更新日期:2010-07-01 00:00:00

  • Intake of iodine-containing multivitamin preparations by pregnant women from the Krakow region of Poland.

    abstract:BACKGROUND:The aim of this study was to evaluate the number of women who take multivitamin formulations containing iodine. MATERIAL AND METHODS:A 34-question questionnaire was given to 500 women during their puerperal stay in two obstetrics/gynaecology wards in Krakow. RESULTS:295 pregnant women (59%) took iodine-con...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:

    authors: Milewicz T,Czyżewicz M,Stochmal E,Galicka-Latała D,Hubalewska-Dydejczyk A,Krzysiek J

    更新日期:2011-01-01 00:00:00

  • [Effect of naloxone on beta-endorphin and insulin concentrations during glucose tolerance testing in patients with simple obesity].

    abstract::The concentrations of beta-endorphin, ACTH, insulin (IRI), glucagon (IRG), cortisol and growth hormone were determined by radioimmunoassay during oral glucose tolerance test (OGTT) performed in 13 obese patients with normal glucose tolerance and without arterial hypertension. The test was performed in random, before a...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:

    authors: Krzyzanowska-Swiniarska B,Gruszczyńska M,Pilarska K,Widecka K,Czekalski S

    更新日期:1993-01-01 00:00:00

  • Adrenal-sparing surgery for a hormonally active tumour - a single-centre experience.

    abstract:INTRODUCTION:Surgeries that spare the adrenal cortex during adrenalectomy have profound justification. Indications for this type of surgery are fairly strict, and more than 30 years of observations continuously verify the results of the procedure. MATERIAL AND METHODS:Of a total of 650 adrenalectomies, 22 (3.4%) were ...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:10.5603/EP.a2020.0033

    authors: Toutounchi S,Pogorzelski R,Wołoszko T,Krajewska E,Celejewski K,Legocka M,Jakuczun W,Gałązka Z

    更新日期:2020-01-01 00:00:00

  • Chronic noise exposure and testosterone deficiency -- meta-analysis and meta-regression of experimental studies in rodents.

    abstract:INTRODUCTION:Chronic psychological distress can cause suppression of the hypothalamic-pituitary-testicular axis and thus lead to male hypogonadism, which is associated with psycho-social dysfunction, chronic diseases, and as a result, considerable economic costs. Conversely, noise is a prototypal environmental stressor...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章,meta分析,评审

    doi:10.5603/EP.2015.0007

    authors: Dzhambov A,Dimitrova D

    更新日期:2015-01-01 00:00:00

  • [Sexual dysfunctions in selected endocrinopathies].

    abstract::According to the socio-sexological reports approximately 40-45% of women and up to 30% of males may suffer from different sexual dysfunctions. The prevalence of those disorders is gradually increasing with age. Multiply numbers of endocrinopathies may influence the human sexual life. In diabetic patients all phases of...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章,评审

    doi:

    authors: Skrzypulec V,Nowosielski K,Drosdzol A,Kowalaczyk R

    更新日期:2005-11-01 00:00:00

  • [Hyperprolactinemia: causes, diagnosis, and treatment].

    abstract::The basic data on hyperprolactinemia (i.e. an excess of PRL above a reference laboratory's upper limits), the most common endocrine disorder of the hypothalamic-pituitary axis are given in this review. The following issues are discussed: regulation of prolactin (Prl) secretion, definition of hyperprolactinemia, its et...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章,评审

    doi:

    authors: Karasek M,Pawlikowski M,Lewiński A

    更新日期:2006-11-01 00:00:00

  • [Graves-Basedow disease after allogeneic bone marrow transplantation].

    abstract::One severe aplastic anaemia case who presented autoimmune thyroid disease after allogeneic bone marrow transplantation (alloBMT) is described. A 19 year old Polish girl developed Graves' hyperthyroidisms 19 months after allogeneic BMT for severe aplastic anaemia (SAA) donated from her brother. Her serum was positive f...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:

    authors: Jakubas B,Kostecka-Matyja M,Darczuk A,Gil J

    更新日期:2006-09-01 00:00:00

  • New classification of thyroid FNAB results - a three-year observation from one clinic.

    abstract:INTRODUCTION:Fine needle aspiration biopsy (FNAB) is the main examination in diagnostics of thyroid nodules. Yet, it does not allow the differentiation of follicular lesions (FL). A new classification of thyroid biopsy results (newC) might improve pre-operative diagnostics mainly due to the introduction of a new subcat...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:10.5603/EP.2014.0060

    authors: Woźniak-Oseła E,Popowicz B,Sporny S,Klencki M,Słowińska-Klencka D

    更新日期:2014-01-01 00:00:00

  • Vascular and cardiac function in young adults with classical congenital adrenal hyperplasia.

    abstract:INTRODUCTION:Patients with classical congenital adrenal hyperplasia (CAH) have increased cardiovascular risk, but the vascular and cardiac function during longitudinal corticoids replacement therapy is not known thoroughly. MATERIAL AND METHODS:Cross-sectional study of 19 Caucasian adults with CAH (age 23.7 ± 3.8 year...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:10.5603/EP.a2017.0046

    authors: Wierzbicka-Chmiel J,Chmiel A,Rychlik S,Ogrodowczyk-Bobik M,Marek B,Kajdaniuk D

    更新日期:2017-01-01 00:00:00

  • Immunoglobulin G4 related thyroid disorders: Diagnostic challenges and clinical outcomes.

    abstract::Ig-G4 related disease (IgG4RD) is a heterogeneous disorder with multi-organ involvement recognised as a separate entity at the start of this century only. It is currently one of the hottest areas of clinical and translational research across specialties. Thyroid involvement in IgG4RD is rare, believed to occur in less...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章,评审

    doi:10.5603/EP.2016.0061

    authors: Dutta D,Ahuja A,Selvan C

    更新日期:2016-01-01 00:00:00

  • [Growth hormone and IGF-1 as doping agents in competitive sport].

    abstract::Growth hormone (GH) and insulin-like growth factor 1 (IGF-1) are often used by athletes as doping agents. It is estimated that up to 25% of sportsmen using anabolic-androgenic steroids also take GH. Available data do not confirm the influence of GH or IGF-1 preparations on physical performance improvement. However, th...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章,评审

    doi:

    authors: Jóźków P,Medraś M

    更新日期:2009-09-01 00:00:00

  • Determining the enzymatic activities of iodothyronine 5'-deiodinases in renal medulla and cortex.

    abstract:INTRODUCTION:Thyroid hormone disorders in patients with chronic kidney disease (CKD) are a result of impaired conversion of T4 to T3. The importance of kidneys in thyroid hormones conversion is not fully understood. The activities of different types of iodothyronine deiodinases in the kidney structures have not been de...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:

    authors: Niemczyk S,Dudek M,Bartoszewicz Z,Szamotulska K,Woźniacki L,Brodowska-Kania D,Niemczyk L,Małek W,Matuszkiewicz-Rowińska J

    更新日期:2013-01-01 00:00:00

  • Thyroid cancer post radioactive iodine treatment for hyperthyroidism - case series and review of the literature.

    abstract:INTRODUCTION:To assess the rate of thyroid cancer and mortality rate in a cohort of patients who received RAI¹³¹ treatment for hyperthyroidism and to report the index cases' characteristics and management MATERIAL AND METHODS: A cohort of 264 patients who received RAI¹³¹ treatment for different causes of thyrotoxicosis...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章,评审

    doi:10.5603/EP.a2017.0037

    authors: Al Eyadeh AA,Al-Sarihin K,Etewi S,Al-Omari A,Al-Asa'd RA,Haddad FH

    更新日期:2017-01-01 00:00:00

  • [Causes of precocious puberty in children referred for evaluation in hospital conditions].

    abstract:INTRODUCTION:Symptoms of precocious puberty (PP) in children always arouse anxiety in their parents. Many children with PP are being hospitalized for the detailed diagnostic work-up. The aim of our study was to analyze the frequency of the variants of PP in children referred to our department. MATERIAL:Retrospective a...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:

    authors: Januszek-Trzciakowska A,Kalina-Faska B,Kalina M,Zachurzok-Buczyńska A,Gawlik A,Małecka-Tendera E

    更新日期:2007-07-01 00:00:00

  • [Iodine-deficiency prophylaxis and the restriction of salt consumption--a 21st century challenge].

    abstract::The World Health Organization (WHO) issued a recommendation (Technical Consultation: Paris 2006, Luxembourg 2007) that salt consumption, as a risk factor for hypertension, atherosclerosis, myocardial infarction, stroke, and select cancers, should be restricted. The European Commission looked to adhere to this recommen...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章,评审

    doi:

    authors: Szybiński Z,Jarosz M,Hubalewska-Dydejczyk A,Stolarz-Skrzypek K,Kawecka-Jaszcz K,Traczyk I,Stoś K

    更新日期:2010-01-01 00:00:00

  • [Diagnostic scintigraphy and effectiveness of 131I radioiodine therapy in differentiated thyroid carcinoma (DTC)].

    abstract:INTRODUCTION:Since the effect of pre-therapeutic scintigraphy on the outcome of DTC treatment is debated, we evaluated factors affecting the effectiveness of (131)I therapy with respect to the delay between diagnostic scintigraphy and the application of radioiodine. MATERIAL AND METHODS:In the studied group of 60 pati...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:

    authors: Bałdys-Waligórska A,Buziak-Bereza M,Huszno B,Wilczak A

    更新日期:2006-07-01 00:00:00

  • Endocrine complications of cancer immunotherapy.

    abstract::Immunotherapy using monoclonal antibodies - checkpoint inhibitors - is a dynamically evolving discipline of clinical oncology and a new hope for patients with advanced and disseminated cancer. However, the activation of T-lymphocytes can at the same time lead to autoimmune response and destruction of healthy organs, w...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章,评审

    doi:10.5603/EP.a2018.0073

    authors: Król A,Gawlik T,Jarząb B

    更新日期:2018-01-01 00:00:00

  • [Five year remission of GHRH secreting bronchial neuroendocrine tumor with symptoms of acromegaly. Utility of chromogranin A in the monitoring of the disease].

    abstract::Acromegaly is usually caused by excess GH (growth hormone) secretion by pituitary adenoma. Extremely rare (< 1% of cases) acromegaly can be a result of ectopic GHRH (growth hormone releasing hormone) secretion by bronchial tubes, lung, pancreatic or intestinal tumor. The aim of this description is to present the case ...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:

    authors: Bolanowski M,Kos-Kudła B,Rzeszutko M,Marciniak M,Zatońska K

    更新日期:2006-01-01 00:00:00

  • Minimally invasive radioguided parathyroid surgery using low-dose Tc-99m-MIBI - comparison with standard high dose.

    abstract:INTRODUCTION:Surgery remains the most effective treatment for primary hyperparathyroidism (PHPT). Minimally invasive radioguided parathyroidectomy (MIRP) is a common technique for detecting and excising abnormal parathyroid glands. The aim of this study was to compare injections of low-dose and high-dose (99m) Tc metho...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:10.5603/EP.a2017.0031

    authors: Jangjoo A,Sadeghi R,Mousavi Z,Mohebbi M,Khaje M,Asadi M

    更新日期:2017-01-01 00:00:00

  • Polyendocrine autoimmunity in thyroid diseases.

    abstract::Anti-adrenal and anti-pituitary autoantibodies have been determined in 45 patients with autoimmune diseases of the thyroid, including 25 patients with Graves' disease and 20 patients with hypothyroidism of autoimmune origin. The determinations were carried out with the use of solid-phase RIA methods previously develop...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:

    authors: Gryczyńska M,Baumann-Antczak A,Kosowicz J

    更新日期:1993-01-01 00:00:00

  • Clinical implications of GWAS variants associated with differentiated thyroid cancer.

    abstract::The genetic risk of differentiated thyroid cancer (DTC) probably consists of multiple low-penetrance, single-nucleotide polymorphisms (SNP). Such markers are difficult to uncover by linkage analysis but can be revealed by association studies. Genome-wide association studies (GWASs) have uncovered 31 SNPs associated wi...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章,评审

    doi:10.5603/EP.a2019.0027

    authors: Jendrzejewski JP,Sworczak K,Comiskey DF,de la Chapelle A

    更新日期:2019-01-01 00:00:00

  • Are adipokines associated with atrial fibrillation in type 2 diabetes?

    abstract:INTRODUCTION:The potential effect of adipokines on the development of AF is yet to be established. The aim of this study was to investigate the association of baseline serum adipokines with 1) the presence of AF at baseline and 2) future risk of AF development. MATERIAL AND METHODS:The current study is a sub-analysis ...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:10.5603/EP.a2019.0059

    authors: Peller M,Kapłon-Cieślicka A,Rosiak M,Tymińska A,Ozierański K,Eyileten C,Kondracka A,Mirowska-Guzel D,Opolski G,Postuła M,Filipiak KJ

    更新日期:2020-01-01 00:00:00

  • [Venopunction of the cubital vein as an alternative approach for CGRP plasma level evaluation in tmd patients].

    abstract:INTRODUCTION:Calcitonin gene-related peptide is an important vasodilator. It plays an important role in the metabolism of chewing muscles. The aim of the study was to evaluate the plasma level of CGRP in patients with myofascial pain (RDC/TMD Ia) and myofascial pain with limited opening (RDC/TMD Ib) before and after oc...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章,随机对照试验

    doi:10.5603/EP.2017.0025

    authors: Nitecka-Buchta A,Marek B,Kapustecka JB,Baron S

    更新日期:2017-01-01 00:00:00

  • [The histopathological evaluation of the local tolerance of alendronate containing medicines].

    abstract:INTRODUCTION:In order to be effective, treatment for osteoporosis must be long-term. Unfortunately, according to clinical trials and clinical practice the most frequent cause of patient resignation from the treatment is adverse reactions to the medications. In the case of bisphosphonates they are most frequently connec...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章

    doi:

    authors: Jastrzebski Z,Napiórkowska L,Pykało R

    更新日期:2007-01-01 00:00:00

  • Orbital radiotherapy in the management of Graves' orbitopathy--current state of knowledge.

    abstract::The treatment of Graves' orbitopathy (GO) remains a diagnostic and therapeutic challenge for clinicians worldwide. The elimination of risk factors, such as encouraging smoking cessation and achieving euthyroidism, are the most important and usually sufficient treatment methods in most mild cases. A course of selenium ...

    journal_title:Endokrynologia Polska

    pub_type: 杂志文章,评审

    doi:10.5603/EP.2014.0054

    authors: Ruchała M,Hernik A,Zybek A

    更新日期:2014-01-01 00:00:00