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Quoted phrase not found in phrase index: "Genetic transient congenital hypothyroidism"
Page 1
Congenital Hypothyroidism in Preterm Newborns - The Challenges of Diagnostics and Treatment: A Review.
Klosinska M, Kaczynska A, Ben-Skowronek I. Klosinska M, et al. Front Endocrinol (Lausanne). 2022 Mar 18;13:860862. doi: 10.3389/fendo.2022.860862. eCollection 2022. Front Endocrinol (Lausanne). 2022. PMID: 35370986 Free PMC article. Review.
The decreased level of thyroxine regardless of cause may lead to delayed mental development. Congenital hypothyroidism (CH) is a disorder highly prevalent in premature neonates and it originates from maternal factors, perinatal and labor complications, genetic …
The decreased level of thyroxine regardless of cause may lead to delayed mental development. Congenital hypothyroidism (CH) is …
Cognitive and White Matter Microstructure Development in Congenital Hypothyroidism and Familial Thyroid Disorders.
Perri K, De Mori L, Tortora D, Calevo MG, Allegri AEM, Napoli F, Patti G, Fava D, Crocco M, Schiavone M, Casalini E, Severino M, Rossi A, Di Iorgi N, Gastaldi R, Maghnie M. Perri K, et al. J Clin Endocrinol Metab. 2021 Sep 27;106(10):e3990-e4006. doi: 10.1210/clinem/dgab412. J Clin Endocrinol Metab. 2021. PMID: 34105732
CONTEXT: Children with congenital hypothyroidism (CH) are at risk for suboptimal neurodevelopment. OBJECTIVES: To evaluate neurocognitive function and white matter microstructure in children with permanent or transient CH and to correlate these findings with …
CONTEXT: Children with congenital hypothyroidism (CH) are at risk for suboptimal neurodevelopment. OBJECTIVES: To evaluate neu …
Clinical features and outcomes of 31 children with congenital hypothyroidism missed by neonatal screening.
Xie T, Tan M, Jiang X, Feng Y, Chen Q, Mei H, Cai Y, Zou H, Huang Y. Xie T, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Jun 25;51(3):314-320. doi: 10.3724/zdxbyxb-2022-0213. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 36207837 Free PMC article. English.
OBJECTIVE: To investigate the clinical features and outcomes of children with congenital hypothyroidism (CH) missed by neonatal screening. ...Thyroid function should be evaluated in time for children with unexplained slow growth and delayed jaundice regressio …
OBJECTIVE: To investigate the clinical features and outcomes of children with congenital hypothyroidism (CH) missed by …
Update on some aspects of neonatal thyroid disease.
Simpser T, Rapaport R. Simpser T, et al. J Clin Res Pediatr Endocrinol. 2010;2(3):95-9. doi: 10.4274/jcrpe.v2i3.95. Epub 2010 Aug 1. J Clin Res Pediatr Endocrinol. 2010. PMID: 21274321 Free PMC article. Review.
New factors in the normal development of the thyroid in the neonate are mentioned. The incidence of congenital hypothyroidism continues to increase. We describe congenital hypothyroidism, its possible etiologies, treatment and outcomes. ...With the ear …
New factors in the normal development of the thyroid in the neonate are mentioned. The incidence of congenital hypothyroidism …
Congenital hypothyroidism in children with eutopic gland or thyroid hemiagenesis: prognostic factors for transient vs. permanent hypothyroidism.
Bontemps SH, Legagneur C, Guéant-Rodriguez RM, Remen T, Luc A, Renard E. Bontemps SH, et al. J Pediatr Endocrinol Metab. 2023 Feb 20;36(4):353-363. doi: 10.1515/jpem-2022-0101. Print 2023 Apr 25. J Pediatr Endocrinol Metab. 2023. PMID: 36798001
OBJECTIVES: More than one third of children with congenital hypothyroidism (CH) and thyroid gland in situ (or eutopic gland) have transient hypothyroidism. ...RESULTS: Fifty four infants (48.6%) had permanent congenital hypothyroidism (PC …
OBJECTIVES: More than one third of children with congenital hypothyroidism (CH) and thyroid gland in situ (or eutopic gland) h …
Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.
Nikolaou M, Vasilakis IA, Marinakis NM, Tilemis FN, Zellos A, Lykopoulou E, Traeger-Synodinos J, Kanaka-Gantenbein C. Nikolaou M, et al. Hormones (Athens). 2023 Sep;22(3):515-520. doi: 10.1007/s42000-023-00468-0. Epub 2023 Jul 26. Hormones (Athens). 2023. PMID: 37493943 Review.
PURPOSE: IGSF1 deficiency syndrome (immunoglobulin superfamily member 1) is considered the most common sex-linked cause of secondary congenital hypothyroidism and is characterized by a wide variety of other clinical and biochemical features, including hypopro …
PURPOSE: IGSF1 deficiency syndrome (immunoglobulin superfamily member 1) is considered the most common sex-linked cause of secondary cong …
Congenital hypothyroidism with eutopic thyroid gland: analysis of clinical and biochemical features at diagnosis and after re-evaluation.
Rabbiosi S, Vigone MC, Cortinovis F, Zamproni I, Fugazzola L, Persani L, Corbetta C, Chiumello G, Weber G. Rabbiosi S, et al. J Clin Endocrinol Metab. 2013 Apr;98(4):1395-402. doi: 10.1210/jc.2012-3174. Epub 2013 Feb 20. J Clin Endocrinol Metab. 2013. PMID: 23426615 Free article.
CONTEXT: In recent years changes in screening strategies for congenital hypothyroidism (CH) led to an increased detection of mild forms of CH, associated with eutopic thyroid gland. ...Genetic analysis was performed in selected cases. RESULTS: At re-evaluatio …
CONTEXT: In recent years changes in screening strategies for congenital hypothyroidism (CH) led to an increased detection of m …
Transient congenital hypothyroidism caused by biallelic mutations of the dual oxidase 2 gene in Japanese patients detected by a neonatal screening program.
Maruo Y, Takahashi H, Soeda I, Nishikura N, Matsui K, Ota Y, Mimura Y, Mori A, Sato H, Takeuchi Y. Maruo Y, et al. J Clin Endocrinol Metab. 2008 Nov;93(11):4261-7. doi: 10.1210/jc.2008-0856. Epub 2008 Sep 2. J Clin Endocrinol Metab. 2008. PMID: 18765513
CONTEXT: Mutations in dual oxidase (DUOX2) have been proposed as a cause of congenital hypothyroidism. Previous reports suggest that biallelic mutations of DUOX2 cause permanent congenital hypothyroidism and that monoallelic mutations cause transien …
CONTEXT: Mutations in dual oxidase (DUOX2) have been proposed as a cause of congenital hypothyroidism. Previous reports sugges …
A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature.
Gaisl O, Konrad D, Joset P, Lang-Muritano M. Gaisl O, et al. J Pediatr Endocrinol Metab. 2019 Sep 25;32(9):1027-1030. doi: 10.1515/jpem-2019-0057. J Pediatr Endocrinol Metab. 2019. PMID: 31271559 Free article. Review.
GATA6 gene variants come along with possible features such as pancreas agenesis/hypoplasia, neonatal diabetes and congenital heart defect. Congenital hypothyroidism, and hepatobiliary and gut abnormalities are also detectable. ...Herein we present a novel het …
GATA6 gene variants come along with possible features such as pancreas agenesis/hypoplasia, neonatal diabetes and congenital heart de …
Identification and characterization of four PAX8 rare sequence variants (p.T225M, p.L233L, p.G336S and p.A439A) in patients with congenital hypothyroidism and dysgenetic thyroid glands.
Esperante SA, Rivolta CM, Miravalle L, Herzovich V, Iorcansky S, Baralle M, Targovnik HM. Esperante SA, et al. Clin Endocrinol (Oxf). 2008 May;68(5):828-35. doi: 10.1111/j.1365-2265.2007.03111.x. Epub 2007 Nov 2. Clin Endocrinol (Oxf). 2008. PMID: 17980011
CONTEXT: Thyroid dysgenesis may be associated with mutations in the paired box transcription factor 8 (PAX8) gene and is characterized by congenital hypothyroidism transmitted in an autosomal dominant mode. OBJECTIVES: The aim of this study was to identify new mutat …
CONTEXT: Thyroid dysgenesis may be associated with mutations in the paired box transcription factor 8 (PAX8) gene and is characterized by …
21 results