OBJECTIVE: To explore the genetic testing outcomes of a fetal family with Thyroid dyshormonogenesis type 5 (TDH5) and familial Neurofibromatosis type 1 (NF1), and to clarify the association between clinical manifestations and genetic variations. METHODS: One case of a TDH5 combined with familiar NF1 fetus treated at Gansu Maternal and Child Health Hospital in January 2024 was selected as the research subject. The clinical and family history data of the fetus were collected by retrospective research method. 10-15 mL of fetal amniotic fluid, and 2-3 mL of peripheral blood from the parents, sister, and grandfather of the fetus were collected, and genomic DNA was extracted for trio whole-exome sequencing (trio-WES). The Sanger sequencing was utilized to validate candidate variants for family verification. According to the Standards and Guidelines for the Interpretation and Reporting of Sequence Variants of the American Society of Medical Genetics and Genomics (ACMG) (hereafter referred to as the ACMG guidelines), the pathogenicity of the detected variants was classified. This study has been approved by the Medical Ethics Committee of Gansu Maternal and Child Health Hospital [Ethics No.（2021）GSFY（65）]. RESULTS: The fetal ultrasound indicated the nuchal translucency (NT) thickening, and the thyroid function test results of the sister showed an increase in thyroid stimulating hormone and a decrease in free thyroid hormone. Simultaneously, there were cafe-au-lait macules of various sizes in multiple parts of the body of the sister, and the mother had a similar cafe-au-lait macules phenotype. The trio-WES results revealed that there was a c.413dupA (p.Tyr138*) frameshift mutation in exon4 and c.573G>A (p.Trp191*) nonsense mutation in exon5 of the fetal DUOXA2, which were inherited from the mother and father, respectively. In accordance with the ACMG guidelines, they were classified as pathogenic variant (PVS1+PM2_Supporting+PM3) and likely pathogenic variant (PVS1+PM2_Supporting), respectively. And the nonsense mutation c.6972C>A (p.Tyr2264*) was detected in exon46 of the NF1 in the fetus, inherited from the mother maternal grandfather. The genetic testing results of the first sister and proband in this case were consistent, and the DUOXA2 and NF1 of the second sister were both wild-type. According to the ACMG guidelines, c.6972C>A (p.Tyr2264 *) was classified as pathogenic variant (PVS1+PS4_Supporting+PP4+PM2_Supporting). CONCLUSION The mutations in the DUOXA2 gene c.413dupA (p.Tyr138*) and c.573G>A (p.Trp191*), and the NF1 gene c.6972C>A (p.Tyr2264*) might be the genetic causes of TDH5 combined with familiar NF1 in proband. The discovery of the DUOXA2 gene c.573G>A (p.Trp191*) enriches the spectrum of pathogenic gene variations.
Humans ; Female ; Pedigree ; Pregnancy ; Neurofibromatosis 1/complications* ; Male ; Genetic Testing ; Adult ; Thyroid Dysgenesis/genetics* ; Fetus ; Exome Sequencing ; Mutation

OBJECTIVES

To report a case of lingual thyroid in an adult woman, excised via transoral endoscopic surgery.

Design:Case Report

Setting:Tertiary Government Training Hospital

Patient:One

A 57-year-old woman consulted due to dysphagia and was initially treated for laryngopharyngeal reflux for a year. Thorough physical examination revealed a tongue base mass while imaging studies revealed the absence of thyroid in the anterior neck, and thyroid function tests revealed a hypothyroid state. The lingual thyroid was excised via transoral endoscopic surgery, confirmed as ectopic thyroid tissue on histopathology. There were no postoperative complications and the patient was discharged well, expressing high satisfaction with the resolution of her symptoms on follow-up at three months. She remains euthyroid on thyroxine replacement therapy.

The transoral endoscope-guided approach remains a valuable tool in the surgical armamentarium needed for the excision of lingual thyroids. In institutions where robotic surgery is not available, this technique is worth fostering, not only for lingual thyroids but also for lesions of the tongue base.

Introduction: The causes of congenital hypothyroidism (CHT) are thyroid dysgenesis (TD), dyshormonogenesis (TDH) or transient hypothyroidism (TH). Methodology: This is a cross-sectional study looking at data over a period of 16 years (2000-2016). Confirmed cases had thyroid scan at the age of 3-years-old and repeated TFT (after 6 weeks off medications). Relevant data was collected retrospectively. Results: Forty (60% female) children with CHT were included in the study. Thirty (75%) children presented with high cord TSH. Nine (23%) presented after 2 weeks of life. Majority were diagnosed with TDH (42.5%) with TD and TH of 40% and 17.5% respectively. Median cord TSH of children with TD was significantly higher compared to TDH and TH (p=0.028 and p=0.001 respectively). L-thyroxine doses were not significantly different between TD, TDH and TH at diagnosis or at 3 years. Conclusions TDH is highly prevalent in our population. TD may present after 2 weeks of life. One in five children treated for CHT had TH. Differentiating TD, TDH and TH before initiating treatment remains a challenge in Malaysia. This study provides clinicians practical information needed to understand the possible aetiologies from a patient’s clinical presentation, biochemical markers and treatment regime. Reassessing TH cases may be warranted to prevent unnecessary treatment.
Thyroid Dysgenesis ; Thyroxine

Ectopic thyroid means that thyroid tissue is present at an unusual area rather than at the orthotropic thyroid position. The most common form of ectopic thyroid is lingual thyroid, followed by thyroglossal duct cyst. Ectopic thyroid in the lateral neck area is extremely rare, with only a few case reports found in the literature review. Several studies recommended that metastasizing malignancy should be considered in lateral ectopic thyroid. Described here is a case of 60 year-old woman with lateral ectopic thyroid, which was newly found during a follow-up and was mistaken for metastatic lymphadenopathy.
Female ; Follow-Up Studies ; Humans ; Lingual Thyroid ; Lymphatic Diseases ; Lymphatic Metastasis ; Neck ; Thyroglossal Cyst ; Thyroid Dysgenesis ; Thyroid Gland ; Thyroid Neoplasms ; Thyroid Nodule

Congenital hypothyroidism (CH) is the most common endocrine disorder in neonates and infants with an incidence of one in 2,000 to one in 4,000 newborns. Primary CH can be caused by thyroid dysgenesis and thyroid dyshormonogenesis. CH due to a TG gene mutation is one cause of thyroid dyshormonogenesis and can be characterized by goitrous CH with absent or low levels of serum thyroglobulin (Tg). In the present case, a 15-day-old neonate was referred to us with elevated thyroid stimulating hormone detected during a neonatal screening test. At the age of 34 months, extensive genetic testing was performed, including targeted exome sequencing for hypothyroidism, and revealed compound heterozygous mutations in the TG gene. Sanger sequencing of both parents’ DNA samples revealed a c.3790T> C (p.Cys1264Arg) mutation located at exon 17 inherited from the mother, and a c.4057C> T (p.Gln1353*) mutation located at exon 19 was inherited from the father. The c.4057C> T (p.Gln1353*) mutation located at exon 19 has never been reported and, therefore, is a new discovery. We report a case of primary permanent CH with compound heterozygous mutations of the TG gene, including a novel mutation.
Congenital Hypothyroidism ; DNA ; Exome ; Exons ; Fathers ; Genetic Testing ; Humans ; Hypothyroidism ; Incidence ; Infant ; Infant, Newborn ; Mothers ; Neonatal Screening ; Thyroglobulin ; Thyroid Dysgenesis ; Thyroid Gland ; Thyrotropin

OBJECTIVE: To study the types and characteristics of TUBB1 mutation in children with congenital hypothyroidism (CH) and thyroid dysgenesis (TD) in Shandong, China. METHODS: Mutations of the whole coding region of the TUBB1 gene were analyzed for 289 children with CH and TD in Shandong. Whole-genome DNA was extracted from peripheral blood leukocytes. PCR multiplication was performed for the whole coding region of the TUBB1 gene. Sanger sequencing was performed for the PCR products, and a biological information analysis was performed. RESULTS: Among the 289 children with CH and TD, 4 (1.4%) were found to have a c.952C>T(p.R318W) heterozygous mutation in the TUBB1 gene, resulting in the change of tryptophan into arginine at codon 318 of TUBB1 protein. This mutation was evaluated as "potentially pathogenic" based on the classification criteria and guidelines for genetic variation by American College of Medical Genetics and Genomics. CONCLUSIONS A novel mutation is detected in the exon of the TUBB1 gene in children with CH and TD in Shandong, suggesting that the TUBB1 gene may be a candidate pathogenic gene for CH children with TD.
Child ; China ; Congenital Hypothyroidism ; genetics ; DNA Mutational Analysis ; Humans ; Mutation ; Thyroid Dysgenesis ; genetics ; Tubulin ; genetics

Ectopic thyroid is an uncommon status characterized by the presence of thyroid tissue in a site other than in its usual region. It is rare for dual ectopic thyroid to have two ectopic foci simultaneously. Three cases of dual ectopic thyroid have been reported in the Korean literature. Clinically, most cases in ectopic thyroid were noted at adolescence or postpartum due to increased physiologic hormonal demands. Clinical manifestation, thyroid function test, and radiologic imaging should be employed to make a diagnosis and therapeutic plan of this disease. We present a patient with dual ectopic thyroid tissue in the suprahyoid and infrahyoid area without thyroid tissue in its normal thyroid bed.
Adolescent ; Diagnosis ; Humans ; Postpartum Period ; Thyroid Dysgenesis* ; Thyroid Function Tests ; Thyroid Gland

Objective: To present a case of a double ectopic thyroid gland in a 10-year old boy and discuss the pros and cons of the different management options that were available. Methods: Design: Case Report. Setting: Tertiary Hospital in Metro Manila. Subject: One (1). Results: A 10-year-old boy presented with hoarseness and easy fatigability for 6 years. Rigid endoscopy and CT scan showed an infraglottic mass originating from the anterior tracheal wall causing obstruction. Biopsy revealed thyroid tissue with atypia. Thyroid scintigraphy showed uptake in the submental and midline anterior neck. Thyroid hormone levels were consistent with hypothyroidism. Levothyroxine returned hormone levels to normal and resulted in complete regression of the mass with no symptoms of dyspnea, stridor or bleeding. Conclusion The management of ectopic thyroid presents a challenge as there are no guidelines for optimal treatment. Thyroid hormone insufficiency is a frequent occurrence, and emphasis must be given to its monitoring. Surgery in a critical airway lesion such as this may be reserved for cases where the patient experiences dyspnea and stridor or lack of response to thyroid hormone treatment.
Thyroid Dysgenesis ; Thyroid Hormones ; Thyroxine

Because of its embryonic origin, the thyroid gland is predisposed to multiple anatomical variations and developmental anomalies. These include the pyramidal lobe, the origin of levator glandular thyroidae, the absence of the isthmus, ectopic thyroid, accessory thyroid tissues, etc. These anatomical variations are clinically significant to surgeons, anatomists, and researchers. The present study was designed to report anatomical variations and developmental anomalies of the thyroid gland in Ethiopian population. The study was conducted on 40 cadavers used for routine dissection classes. The thyroid gland was exposed and observed for any variations and developmental anomalies. The length, width, and thickness of the lobes were measured using a vernier caliper. Differences in the incidence of pyramidal lobe and absence of the isthmus between sexes were tested using a Pearson chi-square test. The mean length, width, and thickness of the right lobe were 4.24 cm, 1.8 cm, and 1.6 cm, respectively, whereas it was 4.08 cm, 1.8 cm, and 1.6 cm, respectively for that of the left lobe. The pyramidal lobe was noted in 52.5% of the cadavers. The levator glandulae thyroidae were prevalent in 40% of the cadavers. The isthmus mainly overlies the 2nd to 4th tracheal rings and was absent in 7.5% of the cadavers. Accessory thyroid tissue and double pyramidal lobes were noted in 2.5% of the cadavers. Most of the variations of the thyroid gland were seen frequently in female but it was not statically significant. Different clinically important and rare variations of the thyroid gland were found.
Anatomists ; Cadaver* ; Female ; Humans ; Incidence ; Surgeons ; Thyroid Dysgenesis ; Thyroid Gland*

No abstract available.
Female ; Female* ; Humans ; Hypothyroidism* ; Lingual Thyroid* ; Ovarian Hyperstimulation Syndrome*