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1.
J Pak Med Assoc ; 74(5): 987-989, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38783453

RESUMEN

Thyroid hemiagenesis is defined as a failure of one thyroid lobe development. This condition predominantly manifests as an incidental finding during radiological investigation. This paper repor ts the case o f a 53-year-ol d female, a known case of hypertension, who visited the ENT clinic at AKU, a ter tiary ca re centre in Karachi, Pak istan and was hospi talized from 12 th to 1 5th Septembe r 202 1. The patient presented with hemiagenesis of the right thyroid lobe with enlargement of the contralateral lobe resulting in airway compression. She was subjected to excision of the thyroid gland without any intra-operative or postoperative com plicati ons. There were n o complaints o f dyspnoea, stridor or hoarseness during the hospital stay. The patient was discharged and was found to be well on subsequent follow-ups.


Asunto(s)
Hipertrofia , Glándula Tiroides , Humanos , Femenino , Persona de Mediana Edad , Glándula Tiroides/anomalías , Glándula Tiroides/diagnóstico por imagen , Tiroidectomía/métodos , Disgenesias Tiroideas/complicaciones , Disgenesias Tiroideas/cirugía , Disgenesias Tiroideas/diagnóstico por imagen , Disgenesias Tiroideas/diagnóstico
2.
Chirurgia (Bucur) ; 118(1): 96-102, 2023 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-36913422

RESUMEN

Introduction: Ectopic thyroid tissue (ETT) is a rare cause of mediastinal masses, representing less than 1% of all mediastinal tumors (1). ETT could be detected anywhere along the path of the first embryonic descent of the thyroid gland from the primordial foregut floor to its usual pre-tracheal position. ETT mediastinal localization accounts for fewer than 1% of all ectopic thyroid cases (2,3). Various surgical methods for approaching mediastinal masses have been documented in the literature, including median sternotomy, posterolateral thoracotomy, and, video-assisted thoracoscopic surgery (VATS) (4). More recently, robotic-assisted thoracoscopic surgery (RATS) has been proposed for these masses. The aim of this article is to present the use of robotic-assisted thoracoscopic surgery (RATS) for a rare case of a mediastinal ETT. Case presentation: We present the case of a 40-year-old male with no significant medical history who discovered a mediastinal mass on a thoracic CT scan following COVID-19 infection. Symptoms were dysphagia and anterior thoracic pain with cervical extension. Scintigraphy confirmed the presence of ectopic thyroid tissue in the mediastinum as well as a normal cervical thyroid gland. ETT was histologically confirmed by endoscopic ultrasound guided biopsy. Robotic assisted surgery was the chosen approach to surgically treat this mass and the technical details are presented. The mass was extracted through the cervical incision. Total surgical time was 230 minutes, and the blood loss was 60 ml. The patient was discharged after 48 hours with follow up showing a full recovery with no residual pain or respiratory symptoms. Conclusion: Ectopic thyroid tissue (ETT) is a rare cause of mediastinal masses, and the diagnosis is always a challenge. Robotic assisted thoracoscopic surgery was proved to be safe and efficient in this rare case of ETT developed in the superior mediastinum.


Asunto(s)
COVID-19 , Procedimientos Quirúrgicos Robotizados , Disgenesias Tiroideas , Masculino , Humanos , Mediastino/patología , Resultado del Tratamiento , Disgenesias Tiroideas/diagnóstico por imagen , Disgenesias Tiroideas/cirugía
3.
Neuroradiology ; 63(10): 1739-1742, 2021 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-34032885

RESUMEN

Ectopic thyroid tissue is a rare entity, resulting from developmental abnormality during the migration of the embryonic thyroid germ from the floor of the primitive foregut to its final pre-tracheal position. Although ectopic thyroid tissue may be located anywhere, its location at the skull base is extremely rare. We report a case of ectopic thyroid tissue at the skull base in a 19-year-old man with multimodality imaging findings.


Asunto(s)
Disgenesias Tiroideas , Adulto , Humanos , Base del Cráneo/diagnóstico por imagen , Disgenesias Tiroideas/diagnóstico por imagen , Adulto Joven
4.
Echocardiography ; 38(3): 500-503, 2021 03.
Artículo en Inglés | MEDLINE | ID: mdl-33594689

RESUMEN

Intracardiac ectopic thyroid tissue is an extremely rare condition, with only 37 cases reported in the English literature. We present a case of intracardiac ectopic thyroid adenoma and briefly review the published reports.


Asunto(s)
Coristoma , Disgenesias Tiroideas , Coristoma/diagnóstico por imagen , Corazón , Humanos , Enfermedades Raras , Disgenesias Tiroideas/diagnóstico por imagen
5.
J Assoc Physicians India ; 69(7): 11-12, 2021 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-34431276

RESUMEN

Presence of ectopic thyroid tissue in unusual locations is a rare phenomenon. Herein we present the case of a 55 year old lady, who on evaluation of dyspnoea was detected to have a mediastinal mass. Initial radiological evaluation showed the presence of a mass arising from the wall of the oesophagus which was presumed most likely to be leiomyosarcoma. She underwent surgical resection of the mass, but on histopathological examination, it turned out to be a nodular goiter which was lying within the smooth muscle layer of the oesophageal wall.


Asunto(s)
Enfermedades del Mediastino , Disgenesias Tiroideas , Esófago/diagnóstico por imagen , Femenino , Humanos , Mediastino/diagnóstico por imagen , Persona de Mediana Edad , Radiografía , Disgenesias Tiroideas/diagnóstico por imagen
6.
Med J Malaysia ; 76(4): 600-602, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-34305130

RESUMEN

The thyroid gland and its hormones play important roles in organ development and in the homeostatic control of physiological mechanisms in human beings. As a result of embryogenic descent of thyroid gland, it commonly resides along the midline - from tongue to mediastinum (90%). Ectopic thyroid gland is a rare occurrence, with extra-lingual ectopic thyroid gland being even rarer. Thus, there is a concern for malignant metastasis. Madam H, a 56-year-old healthy woman presented to the Hospital Sultanah Nora Ismail, Johor, Malaysia in April 2020 with an increasing size of right axilla mass and history of weight loss. She was having right axilla mass for the previous 7 years but only noticed the increase in size about 1 year ago. She has no other constitutional symptoms. A tru-cut biopsy performed demonstrated a benign ectopic thyroid tissue. Thyroid function test showed primary hypothyroidism. Serum Chromogranin A and other thyroid antibodies were within the normal value. Further radiological imaging showed the normal thyroid gland at neck, with no signs of distant malignancy. There was no other axillary, mediastinal or hilar lymph node enlargement. She was started on regular T. L Thyroxine 100mcg daily and given regular follow-up in endocrine clinic. Benign ectopic thyroid gland is an unusual finding. As such, follow up is needed with possibility of carcinomatous transformation such as papillary carcinoma should be considered.


Asunto(s)
Carcinoma Papilar , Disgenesias Tiroideas , Neoplasias de la Tiroides , Axila , Femenino , Humanos , Persona de Mediana Edad , Disgenesias Tiroideas/diagnóstico por imagen , Neoplasias de la Tiroides/diagnóstico , Neoplasias de la Tiroides/cirugía
7.
J Pak Med Assoc ; 70(2): 351-353, 2020 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-32063634

RESUMEN

Ectopic lingual thyroid along with a normally located thyroid gland is an uncommon condition caused by an aberrant descent of thyroid during embryogenesis. It is more common among females and expresses during puberty, pregnancy and menopause. It is mostly associated with hypothyroidism. Patient usually presents with complaints of dysphagia, dysphonia and suffocation. Treatment of choice depends upon the primary complaint of the patient. We present the case of a young female who underwent tracheostomy to relieve respiratory tract obstruction during puberty and was later diagnosed as a case of ectopic lingual thyroid by radioactive iodine uptake and CT scan imaging. She had an associated hypothyroidism; patient was then put on thyroxine and after making her euthyroid she was operated by transoral route and her ectopic lingual thyroid was removed. She was discharged on a maintenance dose of thyroxin.


Asunto(s)
Obstrucción de las Vías Aéreas/diagnóstico por imagen , Hipotiroidismo/diagnóstico , Tiroides Lingual/diagnóstico por imagen , Adolescente , Obstrucción de las Vías Aéreas/etiología , Obstrucción de las Vías Aéreas/fisiopatología , Trastornos de Deglución/etiología , Trastornos de Deglución/fisiopatología , Femenino , Humanos , Hipotiroidismo/complicaciones , Hipotiroidismo/tratamiento farmacológico , Hipotiroidismo/fisiopatología , Tiroides Lingual/complicaciones , Tiroides Lingual/fisiopatología , Tiroides Lingual/cirugía , Disgenesias Tiroideas/complicaciones , Disgenesias Tiroideas/diagnóstico por imagen , Disgenesias Tiroideas/fisiopatología , Tiroxina/uso terapéutico , Tomografía Computarizada por Rayos X
8.
J Clin Ultrasound ; 46(4): 299-301, 2018 May.
Artículo en Inglés | MEDLINE | ID: mdl-28940588

RESUMEN

An ectopic thyroid gland results from the abnormal migration of the thyroid in the course of its development. Primary ectopic mediastinal thyroid is very rare and occurs in less than 1% of all goiters that can be surgically excised. Ectopic thyroid tissue has a characteristic sonographic appearance as smooth-bordered, homogeneous, hypoechoic tissue with fine specular echoes. We report 3 cases of mediastinal ectopic thyroid diagnosed by endobronchial ultrasound-guided transbrochial needle aspiration biopsy.


Asunto(s)
Broncoscopía , Biopsia por Aspiración con Aguja Fina Guiada por Ultrasonido Endoscópico , Enfermedades del Mediastino/diagnóstico por imagen , Disgenesias Tiroideas/diagnóstico por imagen , Adulto , Femenino , Humanos , Masculino , Enfermedades del Mediastino/patología , Persona de Mediana Edad , Disgenesias Tiroideas/patología
9.
J Clin Ultrasound ; 46(6): 375-379, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-29575022

RESUMEN

PURPOSE: To assess the prevalence of ectopic thyroidal thymus tissue detected by sonography (US) in children and to analyze the US features. METHODS: We retrospectively reviewed images of 216 children who had undergone a thyroid or neck US examination from February 2015 to June 2015. Lesions within or adjacent to the thyroid gland that showed echopatterns consistent with thymic tissue were diagnosed as ectopic thyroidal thymus tissue. Lesions were reviewed according to their side, location, level, size, shape, echo pattern, internal content, and vascularization. RESULTS: A total of 216 children (119 girls, 97 boys) with a mean ± SD age of 8.6 ± 5.2 years were enrolled the study.Thirty children (13girls, 17 boys) (13.9%) had 35 lesions compatible with ectopic thyroidal thymus tissue.Nine children had intrathyroidal (4.2%) and 21 children had extrathyroidal (9.7%) ectopic thymus tissue.The mean ± SD ages of the children with and without ectopic thyroidal thymus tissue were 6.0 ± 3.6 years and 9.1 ± 5.2 years, respectively (P = .002). Twenty-five of the lesions were extrathyroidal and 10 were intrathyroidal. All extrathyroidal and most (8/9) intrathyroidal ectopic thymuses had fusiform shape with well demarcated contours. Ectopic thymuses were located either in the midportion (n = 23) or lower portion of the neck (n = 12). Both extrathyroidal and intrathyroidal ectopic thymuses showed typical hypoechoic (n = 22/25, n = 9/10, respectively) or hyperechoic (n = 3/25, n = 1/10, respectively) echo patterns with internal linear and punctate echoes. CONCLUSIONS: Ectopic thyroidal thymic tissue is common in children. Radiologists should be vigilant about the unique US features of ectopic thyroidal thymus, including a hypo- and hyper-echoic echo pattern with multiple linear and punctate echoes, a fusiform shape, well-demarcated contours, and middle or low-lying location to differentiate it from other neck or thyroid lesions.


Asunto(s)
Timo/anomalías , Timo/diagnóstico por imagen , Disgenesias Tiroideas/diagnóstico por imagen , Ultrasonografía/métodos , Niño , Femenino , Humanos , Masculino , Prevalencia , Estudios Retrospectivos
10.
J Clin Ultrasound ; 46(9): 582-584, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-30288756

RESUMEN

Ectopic thyroid and fourth branchial cleft anomaly are rare congenital anomalies of the neck. This is a case report of the coexistence of these two rare congenital anomalies in a 1-year-old girl. She had ectopic lingual thyroid and asymptomatic abscess in the fourth branchial cleft cyst, which was found in ultrasonography carried out to evaluate congenital hypothyroidism. To the best of our knowledge, this is the first reported case of ectopic thyroid coexisting with fourth branchial cleft anomaly in the same patient.


Asunto(s)
Branquioma/complicaciones , Branquioma/diagnóstico por imagen , Neoplasias de Cabeza y Cuello/complicaciones , Neoplasias de Cabeza y Cuello/diagnóstico por imagen , Disgenesias Tiroideas/complicaciones , Disgenesias Tiroideas/diagnóstico por imagen , Región Branquial/diagnóstico por imagen , Diagnóstico Diferencial , Femenino , Humanos , Lactante , Ultrasonografía/métodos
11.
Echocardiography ; 34(7): 1096-1098, 2017 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-28497558

RESUMEN

Ectopic thyroid is a rare congenital embryonic anomaly. Ectopic thyroid tissue can be located anywhere during its descent, but it is found primarily at the base of the tongue and in the mediastinum. It is very rarely found in the heart. Here, we report a rare case of cardiac ectopic thyroid tissue in a 53-year-old woman who presented with chest pain. Echocardiography revealed an intracardiac mass that was removed successfully. Histopathology confirmed that the mass was thyroid tissue without malignancy.


Asunto(s)
Ecocardiografía/métodos , Ventrículos Cardíacos/diagnóstico por imagen , Disgenesias Tiroideas/diagnóstico por imagen , Femenino , Ventrículos Cardíacos/cirugía , Humanos , Persona de Mediana Edad , Disgenesias Tiroideas/cirugía , Resultado del Tratamiento
13.
Vet Radiol Ultrasound ; 56(1): 84-95, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-24798491

RESUMEN

Thyroid scintigraphy is currently the reference standard for diagnosing and staging cats with hyperthyroidism, but few studies describing the scintigraphic characteristics in a large number of cats have been reported. The objective of this study was to better characterize thyroid scintigraphy findings by evaluating 2096 consecutive cats with hyperthyroidism that were referred over a 3.5-year period. Of these cats, 2068 (98.7%) had a high thyroid-to-salivary ratio (>1.5), whereas 2014 (96.1%) were found to have a high thyroid-to-background ratio (>6.1). When the patterns of the cats' thyroid disease were recorded, 665 (31.7%) had unilateral disease, 1060 (50.6%) had bilateral-asymmetric disease (two thyroid lobes unequal in size), 257 (12.3%) had bilateral-symmetric disease (both lobes similar in size), and 81 (3.9%) had multifocal disease (≥3 areas of increased radionuclide uptake). The number of areas of (99m) TcO(-) 4 uptake in the 2096 cats ranged from 1 to 6 (median, 2), located in the cervical area in 2057 (98.1%), thoracic inlet in 282 (13.5%), and in the thoracic cavity in 115 (5.5%). Ectopic thyroid tissue (e.g. lingual or mediastinal) was diagnosed in 81 (3.9%) cats, whereas thyroid carcinoma was suspected in 35 (1.7%) of the cats. The results of this study support conclusions that most hyperthyroid cats have unilateral or bilateral thyroid nodules, but that multifocal disease will develop in a few cats that have ectopic thyroid disease or thyroid carcinoma. Both ectopic thyroid disease and thyroid carcinoma are relatively uncommon in hyperthyroid cats, with a respective prevalence of ∼4% and ∼2% in this study.


Asunto(s)
Enfermedades de los Gatos/diagnóstico por imagen , Hipertiroidismo/veterinaria , Radiofármacos , Pertecnetato de Sodio Tc 99m , Animales , Gatos , Femenino , Hipertiroidismo/diagnóstico por imagen , Masculino , Enfermedades del Mediastino/diagnóstico por imagen , Enfermedades del Mediastino/veterinaria , Estudios Prospectivos , Cintigrafía , Glándulas Salivales/diagnóstico por imagen , Disgenesias Tiroideas/diagnóstico por imagen , Disgenesias Tiroideas/veterinaria , Glándula Tiroides/diagnóstico por imagen , Neoplasias de la Tiroides/diagnóstico por imagen , Neoplasias de la Tiroides/veterinaria , Enfermedades de la Lengua/diagnóstico por imagen , Enfermedades de la Lengua/veterinaria
14.
Rev Laryngol Otol Rhinol (Bord) ; 136(3): 117-9, 2015.
Artículo en Francés | MEDLINE | ID: mdl-29400031

RESUMEN

Introduction: The thyroid ectopic gland is a rare anomaly, especially when it's a lingual thyroid. It is characterized by aspecific clinical presentation, causing a diagnostic problem. The diagnosis is based on a combination of imaging techniques as well as histological examination. Case presentation: We are presenting a case of a patient with thyroid basi-lingual treated surgically. Discussion: The low incidence of ectopic lingual thyroid , and their clinical variability requires radiological and isotopic investigations. Conclusion: The diagnosis of this disease is primarily histological. The management of these ectopic thyroid is surgical.


Asunto(s)
Tiroides Lingual/cirugía , Disgenesias Tiroideas/cirugía , Adulto , Femenino , Humanos , Tiroides Lingual/diagnóstico por imagen , Tiroides Lingual/patología , Disgenesias Tiroideas/diagnóstico por imagen , Disgenesias Tiroideas/patología
15.
BMJ Case Rep ; 17(1)2024 Jan 09.
Artículo en Inglés | MEDLINE | ID: mdl-38199663

RESUMEN

Hemiagenesis of the thyroid gland is a rare congenital abnormality usually left unnoticed without associated thyroid disorders. The most common congenital anomaly of the thyroid gland is a thyroglossal cyst, followed by ectopic thyroid tissue and thyroid dysgenesis, which may be agenesis or hemiagenesis. Preoperative underevaluation of the thyroid hemiagenesis (THA) associated with other thyroid disorders may cause intraoperative difficulty in identifying the gland and difficulty in preservation or even identification of major neurovascular structures during neck exploration. We report a patient who presented to us with right-sided neck swelling. On further evaluation and neck exploration, the patient was diagnosed with THA of the left lobe with right colloid goitre.


Asunto(s)
Bocio Nodular , Disgenesias Tiroideas , Humanos , Bocio Nodular/complicaciones , Bocio Nodular/diagnóstico por imagen , Bocio Nodular/cirugía , Cuello , Disgenesias Tiroideas/diagnóstico , Disgenesias Tiroideas/diagnóstico por imagen , Coloides
16.
J Pediatr Endocrinol Metab ; 26(5-6): 583-6, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23412867

RESUMEN

Hyperthyrotropinaemia [mildly elevated thyrotropin (TSH) with normal thyroxine (T4) levels] demands a full assessment, including clinical examination, thyroid imaging and, where indicated, molecular genetic investigations. A male infant, both of whose parents were on T4 treatment, was referred at age 57 days with mild but persistent TSH elevation (12.7 mU/L) and normal free T4 (19.6 pmol/L), following notification by the screening laboratory of a capillary TSH of 10.7 mU/L (reference range, 1.7-9.1 mU/L) on day 8. Assessment showed a venous free T4 level of 15 pmol/L, venous TSH of 20.9 mU/L, serum thyroglobulin of 63 µg/L (reference range, <50 µg/L), and negative thyroglobulin and thyroid peroxidase antibodies. Thyroid ultrasound showed a eutopic, slightly small gland with heterogeneous texture; however, there was no uptake on radioisotope scan. Molecular genetic studies demonstrated a novel missense heterozygous mutation in the TSH receptor (TSHR) gene (c.1169G>T;p.Cys390Phe) in the child, mother and maternal grandmother, but not in the father. The infant was treated with T4 but this was discontinued at age 3 years when repeat testing showed a free T4 of 16.7 pmol/L (reference range, 9-23 pmol/L) and TSH of 8.5 mU/L (reference range, 0.3-5.5 mU/L). A heterozygous TSHR mutation should be considered in the context of hyperthyrotropinaemia and reduced/absent uptake on radioisotope scan. Detection of this mutation has allowed our patient to discontinue T4 treatment for the moment, with a view to staying off treatment in the long-term.


Asunto(s)
Receptores de Tirotropina/genética , Disgenesias Tiroideas/diagnóstico por imagen , Disgenesias Tiroideas/genética , Tirotropina/sangre , Heterocigoto , Humanos , Recién Nacido , Masculino , Mutación Puntual , Cintigrafía , Índice de Severidad de la Enfermedad , Disgenesias Tiroideas/sangre , Glándula Tiroides/diagnóstico por imagen , Tiroxina/sangre , Ultrasonografía
18.
Kulak Burun Bogaz Ihtis Derg ; 23(2): 115-8, 2013.
Artículo en Inglés | MEDLINE | ID: mdl-23611326

RESUMEN

In this article, we report a very rare case of left thyroid lobe with agenesis, adenomatous hyperplasia and coexisting papillary carcinoma of the right lobe. A 59-year-old asymptomatic woman with no previous thyroid surgery was evaluated sonographically. Ultrasonography and scintigraphy revealed an agenesis in the left lobe and multiple right lobe nodules with one of them diagnosed with papillary carcinoma.


Asunto(s)
Carcinoma Papilar/complicaciones , Bocio Nodular/complicaciones , Disgenesias Tiroideas/complicaciones , Neoplasias de la Tiroides/complicaciones , Carcinoma Papilar/diagnóstico por imagen , Carcinoma Papilar/cirugía , Femenino , Bocio Nodular/diagnóstico por imagen , Bocio Nodular/cirugía , Humanos , Persona de Mediana Edad , Cintigrafía , Disgenesias Tiroideas/diagnóstico por imagen , Disgenesias Tiroideas/cirugía , Neoplasias de la Tiroides/diagnóstico por imagen , Neoplasias de la Tiroides/cirugía , Tiroidectomía , Ultrasonografía
19.
Oral Oncol ; 146: 106577, 2023 11.
Artículo en Inglés | MEDLINE | ID: mdl-37783135

RESUMEN

BACKGROUND: Ectopic thyroid is a rare condition. Here we report an extremely rare case of parapharyngeal space ectopic thyroid, which has simultaneously found the papillary thyroid carcinoma of the eutopic thyroid. CASE PRESENTATION: A 54-year-old woman was admitted to our hospital for a thyroid tumor and neck lymph nodes. CT and MR imaging revealed the presence of a thyroid right node, as well as a right parapharyngeal mass with a diameter of 2.5 × 2.3 cm. PET-CT was also performed to diagnose further, revealing that the suv metric of the PPS mass was 4.03. Considering that the mass was asymptomatic, we did not handle it at the first thyroid surgery. However, when the patient underwent a radioactive iodine scan before the radioactive iodine treatment, the imaging showed that the mass could intake the iodine. So, we arranged the second surgery for this mass, and the postoperative pathological examination confirmed the mass was well-differentiated thyroid tissue. CONCLUSION: Parapharyngeal ectopic thyroid with eutopic thyroid cancer is extremely rare. Preoperative imaging examination can significantly avoid the missed diagnosis of this disease. Surgical resection is recommended for the ectopic thyroid while the eutopic thyroid is found to be malignant.


Asunto(s)
Disgenesias Tiroideas , Neoplasias de la Tiroides , Femenino , Humanos , Persona de Mediana Edad , Cáncer Papilar Tiroideo/patología , Neoplasias de la Tiroides/diagnóstico por imagen , Neoplasias de la Tiroides/cirugía , Tiroidectomía/métodos , Tomografía Computarizada por Tomografía de Emisión de Positrones , Espacio Parafaríngeo/patología , Radioisótopos de Yodo/uso terapéutico , Disgenesias Tiroideas/diagnóstico por imagen , Disgenesias Tiroideas/cirugía
20.
J Pediatr Endocrinol Metab ; 25(5-6): 413-8, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-22876532

RESUMEN

BACKGROUND: Thyroid dysgenesis (TD) is usually sporadic. In approximately 2%-8% of TD cases, familial TD has been identified. AIMS: The aim of this study is to define the prevalence of thyroid developmental anomalies in first-degree relatives of children with TD-caused congenital hypothyroidism (CH). METHODS: The investigation included 102 relatives of 33 children with CH and TD (study group) and 27 relatives of 12 normal children (comparative group). All the individuals were subjected to thyroid ultrasound and serum thyroid stimulating hormone (TSH) and free T4 (FT4) determinations. Statistical analysis was based on Fisher's exact test. RESULTS: TD-caused familial CH was noted in 2 of 33 (6%) children with CH. Asymptomatic thyroid developmental anomaly was seen in 1 of 102 (1%) relatives - left thyroid lobe hypoplasia in the mother of a girl with CH and thyroid severe hypoplasia. Familial prevalence of asymptomatic TD in the study group was observed in 1 of 32 families (3.13%). None of the comparative group members demonstrated any thyroid developmental anomalies. CONCLUSIONS: The prevalence rate of thyroid developmental anomalies in the study group is slightly higher than in the comparative group. These disturbances are asymptomatic.


Asunto(s)
Hipotiroidismo Congénito/epidemiología , Hipotiroidismo Congénito/genética , Disgenesias Tiroideas/epidemiología , Disgenesias Tiroideas/genética , Adolescente , Niño , Preescolar , Hipotiroidismo Congénito/diagnóstico por imagen , Familia , Femenino , Humanos , Incidencia , Masculino , Linaje , Fenotipo , Prevalencia , Disgenesias Tiroideas/diagnóstico por imagen , Ultrasonografía
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