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Conservative treatment of fetal dyshormonogenetic goiter with levothyroxine, a systematic literature review.
Exp Ther Med
September 2020
Department of Obstetrics and Gynecology, Queen Elizabeth II Hospital, Grande Prairie, AB T8V 2E8, Canada.
Fetal goitrous hypothyroidism is a rare condition associated with important obstetrical, neonatal complications, and neurodevelopmental impairments. Prenatal treatment remains controversial, and the risk to benefit ratio must be accurately assessed and considered for individualized management. The objective of this review was to evaluate the feasibility, safety, and effectiveness of the conservative treatment of fetal goitrous hypothyroidism.
View Article and Find Full Text PDFFoetal goitrous hypothyroidism - easy to recognise, difficult to treat. Is combined intra-amniotic and intravenous L-thyroxine therapy an option?
Endokrynol Pol
December 2018
2nd Department of Obstetrics and Gynaecology, Centre of Medical Postgraduate Education, Warsaw, Department of Endocrinology, Centre of Medical Postgraduate Education, Warsaw.
Introduction: Foetal hypothyroidism negatively impacts somatic and neurological child development and can be the cause of serious obstetric and perinatal complications. We present a rare case of a large foetal dyshormonogenetic goitre, causing foetal neck hyperexten-sion, oesophageal compression, and cardiac high-output failure.
Material And Methods: A foetal goitre complicated by cardiomegaly and polyhydramnios was diagnosed at 23 weeks of gestation (WG) on a routine ultrasonographic (US) assessment in a healthy nullipara.
Functional analyses of C.2268dup in thyroid peroxidase gene associated with goitrous congenital hypothyroidism.
Biomed Res Int
January 2015
Department of Molecular Medicine, Faculty of Medicine, University of Malaya, 50603 Lembah Pantai, Kuala Lumpur, Malaysia.
The c.2268dup mutation in thyroid peroxidase (TPO) gene was reported to be a founder mutation in Taiwanese patients with dyshormonogenetic congenital hypothyroidism (CH). The functional impact of the mutation is not well documented.
View Article and Find Full Text PDFMonoallelic thyroid peroxidase gene mutation in a patient with congenital hypothyroidism with total iodide organification defect.
Arq Bras Endocrinol Metabol
November 2010
Thyroid Unit, Cellular and Molecular Endocrinology Laboratory, Faculdade de Medicina da Universidade de São Paulo, SP, Brazil.
The aim of this study was to identify the genetic defect of a patient with dyshormonogenetic congenital hypothyroidisms (CH) with total iodide organification defect (TIOD). A male child diagnosed with CH during neonatal screening. Laboratory tests confirmed the permanent and severe CH with TIOD (99% perchlorate release).
View Article and Find Full Text PDF[Papillary carcinoma arising from dyshormonogenetic goiter].
Ann Endocrinol (Paris)
December 2009
Laboratoire d'anatomie et de cytologie pathologiques, CHU Habib Bourguiba, 3029 Sfax, Tunisie.
Introduction: Dyshormonogenetic goiter is a genetically determined thyroid hyperplasia due to an enzyme defect in thyroid-hormone synthesis. Malignant transformation is one of the most serious complications, rarely reported in the literature.
Observation: We report a new case of a 13-year-old boy with goitrous hypothyroidism who consulted for a voluminous goiter.
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