A Novel Mutation Diagnosing in Allan–Herndon–Dudley's Syndrome

2021 ◽  
Author(s):  
Rojan Ipek ◽  
Sevcan Tug Bozdogan ◽  
Mustafa Kömür ◽  
Cetin Okuyaz
Keyword(s):  
Thyroid Function ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Thyroid Function Test ◽  
Molecular Genetic Analysis ◽  
Monocarboxylate Transporter ◽  
Motor Deficit ◽  
Global Developmental Delay ◽  
Thyroid Function Tests ◽  
Severe Hypotonia

AbstractAllan–Herndon–Dudley's syndrome (AHDS) is a rare X-linked recessive disease that causes abnormal serum thyroid function tests, severe hypotonia, intellectual disability, and motor deficit due to a mutation in the monocarboxylate transporter 8, which is a thyroid hormone transporter. A 6-month-old male patient presented to our outpatient clinic with a serious hypotonia complaint. With a preliminary diagnosis of AHDS, a molecular genetic examination was performed. The molecular genetic analysis detected a new previously unidentified variant in the SLC16A2 gene. This case has been presented to report the AHDS, which is a rare cause of hypotonia in patients presenting/consulting with severe hypotonia, global developmental delay, and abnormal thyroid function test results. Besides, a novel pathogenic mutation in the SLC16A2 gene has been described in the present article.

scholarly journals A Novel Mutation of ATP7B Gene in a Case of Wilson Disease

Medicina ◽  
2021 ◽  
Vol 57 (2) ◽  
pp. 123
Author(s):  
Cigdem Yuce Kahraman ◽  
Ali Islek ◽  
Abdulgani Tatar ◽  
Özlem Özdemir ◽  
Adil Mardinglu ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Compound Heterozygous ◽  
Atp7b Gene ◽  
Loss Of Function ◽  
Clinical Presentations ◽  
The Family ◽  
The Brain

Wilson disease (WD) (OMIM# 277900) is an autosomal recessive inherited disorder characterized by excess copper (Cu) storage in different human tissues, such as the brain, liver, and the corneas of the eyes. It is a rare disorder that occurs in approximately 1 in 30,000 individuals. The clinical presentations of WD are highly varied, primarily consisting of hepatic and neurological conditions. WD is caused by homozygous or compound heterozygous mutations in the ATP7B gene. The diagnosis of the disease is complicated because of its heterogeneous phenotypes. The molecular genetic analysis encourages early diagnosis, treatment, and the opportunity to screen individuals at risk in the family. In this paper, we reported a case with a novel, hotspot-located mutation in WD. We have suggested that this mutation in the ATP7B gene might contribute to liver findings, progressing to liver failure with a loss of function effect. Besides this, if patients have liver symptoms in childhood and/or are children of consanguineous parents, WD should be considered during the evaluation of the patients.

scholarly journals The Characteristics of Children with Abnormalities Detected in Thyroid Function Tests, and Distribution of Diagnoses

2020 ◽  
Author(s):  
Elif Çelik ◽  
Ayşe Anık
Keyword(s):  
Thyroid Function ◽  
Thyroid Disease ◽  
Correct Diagnosis ◽  
Thyroid Function Test ◽  
Hashimoto Thyroiditis ◽  
Thyroid Stimulating Hormone ◽  
Thyroid Function Tests ◽  
Test Results ◽  
Function Tests ◽  
Function Test

INTRODUCTION: Thyroid function tests are among the most frequently implemented laboratory tests in primary, and secondary healthcare institutions. The aim of the present study was to investigate the demographic and clinical characteristics and final diagnosis of children referred by primary and secondary healthcare institutions with the suspicion of an abnormality in thyroid function test and/or with the initial diagnosis of specific thyroid disease. METHODS: A total of two hundred eighty-nine pediatric patients, aged between 4 and 18 years admitted to the outpatient clinics of Behçet Uz Children’s Health and Diseases Hospital between January 2018 and January 2020, were included in the study. The patient data were obtained retrospectively from the hospital records. RESULTS: A total of 66% of the patients who were included in the study were female with a median age of 12 years (8.7-14.4), while 64% of them were pubertal; and 78% of the cases were referred by secondary healthcare institutions. The most common reason for referral was isolated elevation of thyroid stimulating hormone (TSH). A total of 56% of the patients were asymptomatic at the time of admission, and thyroid function test results of 75% of them were within normal limits. When evaluated according to their final diagnoses, the children were normal/healthy (64%), diagnosed with Hashimoto thyroiditis (30%), nodular thyroid disease (3%), Graves disease (2%) and isolated increase of TSH was related to obesity in 5 patients (1%). DISCUSSION AND CONCLUSION: It is essential to evaluate children with abnormal thyroid function test results with detailed history and physical examination. Besides, the thyroid function tests should be performed with reliable and sensitive methods in standardized laboratories to reach the correct diagnosis in these children.

scholarly journals Characterization of a novel CSF1R mutation causing hereditary diffuse leukoencephalopathy with spheroids in a case presenting with young-onset dementia

BJPsych Open ◽  
2021 ◽  
Vol 7 (S1) ◽  
pp. S118-S118
Author(s):  
Walid Nasr ◽  
Mahmoud Gad ◽  
Tareq Qassem
Keyword(s):  
Novel Mutation ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Insertion Mutation ◽  
Heterozygous Deletion ◽  
Young Onset ◽  
Pathogenic Variants ◽  
Whole Exome ◽  
Young Onset Dementia ◽  
Rapid Cognitive Decline

ObjectiveThis poster aims to report an unregistered mutation CSF1R gene in a patient presenting young-onset dementia.Hypothesis: Novel heterozygous deletion–insertion mutation in the Colony-Stimulating Factor 1 Receptor (CSF1R) gene is linked to a case of hereditary diffuse leukoencephalopathy with spheroids (HDLS), presenting with young-onset dementia.BackgroundCSF1R mediates proliferation, differentiation, and survival of monocytes/ macrophages and microglia. Pathogenic variants in the CSF1R gene cause autosomal dominant diffuse hereditary leukoencephalopathy with spheroids characterized by variable behavioural, cognitive, and motor changes, usually presenting with young-onset dementia. The average lifespan after the start of the symptoms is often 6 years.Case reportMolecular genetic analysis of whole-exome sequencing (WES) was carried out for a 49-year-old male patient presenting with rapid cognitive decline, behavioural symptoms and impaired sphincteric control.DiscussionWES identified the heterozygous deletion–insertion variant c.2356_2357delinsAC p.(Leu786Thr) (chr5:149435867-49435868; hg19) in the CSF1R gene. To the best of our knowledge the variant has not been described in the literature so far (HGMD 2019.3). No allele frequencies in the general population have been documented.ConclusionWe believe that we have identified a novel mutation in the CSF1R gene. This mutation is likely to be linked to this patient presenting with young-onset dementia.

scholarly journals A comparative study on outcomes of preprandial versus postprandial thyroid function test

2019 ◽  
Vol 5 (6) ◽  
pp. 1662
Author(s):  
Vasim Ismail Patel ◽  
Akshay B. K.
Keyword(s):  
Thyroid Function ◽  
Subclinical Hypothyroidism ◽  
Clinical Symptoms ◽  
Thyroid Function Test ◽  
Thyroid Stimulating Hormone ◽  
Endocrine Gland ◽  
Thyroid Function Tests ◽  
Sample Collection ◽  
Free T4 ◽  
Group 2

<p class="abstract"><strong>Background:</strong> The thyroid is an<strong> </strong>endocrine gland. It secretes two hormones thyroxine (T<sub>4</sub>), triiodothyronine (T<sub>3</sub>). Hypothyroidism is a common condition encountered by a clinician. Subclinical hypothyroidism (SCH) defined as normal free thyroxine (T4) and elevated thyroid stimulating hormone (TSH), is primarily a biochemical diagnosis with or without clinical symptoms. Studies have observed that TSH levels vary at different times in a day. In practice not much importance is given to the timing of the sample collection (pre-prandial or post-prandial sate). SCH is diagnosed depending on TSH value. So the condition may be under or over diagnosed based on a single value. So we conducted this study to determine whether timing of sample collection had any significant relationship in the determination of levels of thyroid hormones.</p><p class="abstract"><strong>Methods:</strong> The study was carried on 114 patients who visited ENT department, NMCH between July 2018 and June 2019. Group-1 consisted of 38 normal patients. Group-2 consisted of 36 hypothyroidism patients GROUP-3 consisted of 40 subclinical hypothyroidism patients. Thyroid function tests (TSH and free T4) were done in fasting state and 2 hours postprandially.  </p><p class="abstract"><strong>Results:</strong> TSH values were found to be significantly lowered after food in all the three groups. Free T4 values did not show any statistically significant alteration after food.</p><p class="abstract"><strong>Conclusions:</strong> There was a significant decline in TSH values postprandially. This might lead to inappropriate diagnosis and management of patients as cases of hypothyroidism, especially in cases of sub clinical hypothyroidism.</p>

scholarly journals Clinical study of thyroid swellings

2021 ◽  
Vol 7 (3) ◽  
pp. 448
Author(s):  
Ashwini S. Rathod ◽  
Girija A. Ghate ◽  
Ammu Korah ◽  
Lakshmi Krishnan ◽  
Ruchir R. Dashora
Keyword(s):  
Thyroid Function ◽  
Clinical Signs ◽  
Neck Region ◽  
Signs And Symptoms ◽  
Thyroid Function Test ◽  
Thyroid Disorders ◽  
Thyroid Function Tests ◽  
Simple Cyst ◽  
Etiological Factors ◽  
Function Tests

<p><strong>Background:</strong> Thyroid swellings are very frequently encountered in ENT practice, ranging from a simple cyst to a malignant tumour. Disorder of structure of thyroid gland, due to various etiological factors, will give rise to swelling in the neck region. Clinical signs and symptoms are inadequate to diagnose thyroid disorders as similar presentations are seen in various thyroid disorders. So, this study of thyroid swellings was done to know different clinical presentations, age and sex distribution, correlation between thyroid swellings and thyroid function tests, analyse various thyroid swellings and etiological factors based on pathological reports.</p><p class="abstract"><strong>Methods:</strong> A prospective study with 50 patients of thyroid swellings was conducted over 2 years, after taking consent from each patient. Patients were clinically examined by inspection, palpation, percussion, auscultation and underwent thyroid function tests. Ultrasonography (USG) and fine needle aspiration cytology (FNAC) was done in all patients.  </p><p class="abstract"><strong>Results:</strong> Total 50 patients of thyroid swellings were studied. Mean age of the patients was 38.92 years with female preponderance (74%). Thyroid swellings were commonly present bilaterally (54%). 82% cases showed euthyroid state. USG revealed that most of the patients had colloid nodule (46%), followed by MNG (26%). Majority of lesions were benign on both USG and FNAC reports. MNG (44%) was reported frequently in the provisional diagnosis, followed by colloid nodule (24%).</p><p class="abstract"><strong>Conclusions:</strong> In all cases of thyroid swellings, detailed clinical history, thorough clinical examination is required. Thyroid function test, USG and FNAC reports help to reach the definitive diagnosis. Histopathological report confirms and gives final diagnosis.</p><p> </p>

scholarly journals Molecular Genetic Analysis of FOXL2 Gene in Two Iranian Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

2017 ◽  
Vol 1 (1) ◽  
Author(s):  
Nooshin Asgari ◽  
Mohammad Taghi Akbari ◽  
Faravareh Khordadpoor Deilamani ◽  
Gholamreza Babamohammadi
Keyword(s):  
Novel Mutation ◽  
Direct Sequencing ◽  
Genetic Disorder ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Premature Menopause ◽  
Type I ◽  
Forkhead Transcription Factor ◽  
Salting Out ◽  
Foxl2 Gene

Background: Blepharophimosis-ptosis-epicanthus syndrome (BPES) is a rare genetic disorder with autosomal dominant inheritance. There are two distinct phenotypes: BPES type I, which is associated with eyelid abnormalities as well as female infertility or premature menopause due to ovarian resistance to gonadotropins, whereas in type II only eyelid abnormalities are present. Mutations in the forkhead transcription factor 2 (FOXL2) gene are responsible for both types of BPES. Objectives: The purpose of this study was to identify mutations in FOXL2 in two Iranian families (from Tehran) with BPES who were referred to Tehran Medical Genetics laboratory. Methods: The peripheral blood was collected from the affected members of two BPES families and genomic DNA was extracted using salting out method. Then, direct sequencing of whole exon of FOXL2 genewas performed. Results: Two frameshift mutations were identified in FOXL2 gene in two familial cases including NM_023067:c.102_103insA (p.G35Rfs*61)as a novel mutation and NM_023067:c.855_871dup (p.H291Rfs*71) (17-bp insertion). Both mutations cause the protein to be truncated and are responsible for a severe phenotype (BPES type I) which was in harmony with our finding. Conclusions: Our results increased the spectrum of FOXL2 mutations and confirm the mutations associated with BPES type I.

scholarly journals Triiodothyronin, Thyroxine and Thyrotropin in Vitiligo

2012 ◽  
Vol 9 (2) ◽  
pp. 7-10
Author(s):  
K Subba ◽  
D Karn ◽  
R Khatri
Keyword(s):  
Thyroid Function ◽  
Thyroid Function Test ◽  
Cross Sectional Study ◽  
Thyroid Function Tests ◽  
Thyroid Disorder ◽  
Age Group ◽  
Cross Sectional ◽  
Function Test ◽  
High Level

BackgroundVitiligo is a common pigmentary disorder of the skin, affecting individuals globally. Not only is this ailment psychologically incapacitating, it also has a high incidence of autoimmunity, signifying that its manifestations may be the portrayal of dysfunction of immune system. ObjectiveThe aim of this study is to find out the situations of abnormal thyroid function test (TFT) in vitiligo patients. MethodsA prospective cross sectional study was conducted at the Dhulikhel Hospital, KUTH, Dhulikhel during November 2008 to January 2011 with the objective to assess the thyroid function tests in vitiligo patients. ResultsTotal 66 vitiligo patients with male 30 (45%) and female 36 (55%). Total 26 (39.39%) vitiligo patients have been found to have abnormal thyroid function test. Among them 10 had abnormal T3, seven had abnormal T4 and 12 had abnormal TSH level. Thyroid function test were normal in other vitiligo patients. Total seven vitiligo had high level of T3 than normal value, four male and three female. Two had higher level of T4 above 2.0 ng/dl and all were male, while five had abnormally low level of T4 with three male and two female. There were seven vitiligo patient with increased T3 level and three with decreased T3 level, among them six were males and four were females, the age group was ranged from seven to 68 years old. The T4 level were found abnormal in seven vitiligo patients among which five were males and two were females with the age group ranging from 7 to 51 years. ConclusionsThere has been significant association of thyroid disorder in the patient with vitiligo. Therefore, patient with vitiligo need to undergo thyroid function test to rule out the thyroid disorder and prevent from long-term complications.DOI: http://dx.doi.org/10.3126/kumj.v9i2.6279Kathmandu Univ Med J 2011;9(2):7-10 

scholarly journals Effects of high iodine containing low osmolar contrast agent (visipaque) on thyroid function tests

2020 ◽  
Vol 4 (5) ◽  
pp. 01-05
Author(s):  
Sorush Niknamian
Keyword(s):  
Contrast Agent ◽  
Thyroid Function ◽  
Thyroid Volume ◽  
Thyroid Function Test ◽  
Iodine Concentration ◽  
Overt Hypothyroidism ◽  
Thyroid Function Tests ◽  
High Iodine ◽  
Function Tests ◽  
Significant Difference

Objective: Investigating high iodine containing low osmolar contrast agent (visipaque) effects on thyroid function tests and thyroid sonography characteristics. Methods: 65 euthyroid cases and 92 controls composed the samples in baseline. Thyroid function tests, Urine Iodine Concentration (UIC) and thyroid sonography were conducted for both groups before and 1 and 3 months after angiography. Serum levels of T4, T3, T3RU, TSH, TPO-Ab and UIC were measured, and hypo/heyperthyroidism prevalence was compared between groups. Results: Mean T3,T4 and TSH changes 1 month after angiography were insignificant in both groups (P:0.61,P:0.4 and P:0.14, P:0.23 in cases and controls for T3 and T4). Medians among cases and controls were 12.8 and 16.75 µg/dl, respectively, at baseline. These values varied to 28.45 and 15.2µg/dl, and 12.95 and 14.2µg/dl 1 month and 3 months after angiography in case and control groups, respectively. UIC increase one month after angiography was significant among cases (P=0.002). TPO-Ab+ were same 3 months after angiography. Thyroid volume changes were significant among cases (P<0.001) and insignificant among controls (P=0.680). No significant difference was seen between cases and controls in overt hypothyroidism, however, a considerable change was seen in thyroid volume and UIC one month after angiography among cases. The hypothyroidism rate among cases was insignificant which may be either related to few cases or short half-life of visipaque (2.1 hour) so that 97% of injected dose was excreted in urine within 24 hours. Conclusion: Thyroid function test is not recommended before angiography in patients without previous thyroid records.

scholarly journals The Role of Thyroid Function Tests in the Diagnosis of Allan-Herndon-Dudley Syndrome Revisited: A Novel Mutation From Iran

2021 ◽  
Author(s):  
Shahab Noorian ◽  
◽  
Sepideh Hamzehlou ◽  
Ali Rabbani ◽  
Arya Sotoudeh ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Thyroid Hormones ◽  
Thyroid Function ◽  
Novel Mutation ◽  
Thyroid Function Tests ◽  
Function Tests ◽  
Whole Exome ◽  
Phenotypic Variations ◽  
Altered Thyroid

Purpose: Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked recessive intellectual disability syndrome with neuromuscular involvements. Altered thyroid function tests are major milestones in AHDS diagnosis. However, due to phenotypic variations in the levels of thyroid hormones in AHDS patients, we believe that the disorder is often under-diagnosed. Here, we report a three-and-a-half-year-old boy with AHDS diagnosis and normal levels of thyroid hormones. Methods: Whole-exome sequencing followed by data analysis was performed on the patient’s sample. The mutation was confirmed by Sanger sequencing in the patient and his mother. Results: We report a three-and-a-half-year-old boy with AHDS diagnosis and a novel synonymous missense mutation (c. 1026G>A) in SLC16A2 gene manifesting normal levels of T3, T4, and TSH. The mutation causes no change in amino acid sequence, but affects splicing through alteration of an exonic splicing enhancer. To the best of our knowledge, there are only three similar reports in the literature reporting AHDS diagnosis and normal levels of thyroid hormones. Conclusions: It is concluded that altered levels of thyroid hormones are notable but not necessary markers for diagnosis of AHDS. The candidate diagnosis of AHDS should be considered in patients with X-linked recessive intellectual disability syndrome with neuromuscular involvements irrespective of levels of thyroid hormones; otherwise, it could lead to under-diagnosis of the disorder.

Sign in / Sign up

Export Citation Format

Share Document