6987 Whole exome sequencing for permanent congenital hypothyroidism
Abstract Disclosure: J. Ahn: None. H. Jeong: None. Background: Guidelines on congenital hypothyroidism (CH) recommend that genetic testing should aim to improve diagnosis, treatment or prognosis. Little information is available regarding the genetic heterogeneity of CH in Koreans.
Ahn, J, Jeong, H
openaire +1 more source
OBJECTIVE: To determine the evolution of congenital hypothyroidism in preterms and the clinical features of permanent forms. STUDY DESIGN: We retrospectively evaluated 24 preterm children detected by newborn screening for congenital hypothyroidism:
Di Frenna M +6 more
core +2 more sources
Congenital Hypothyroidism: Etiology and Growth-Development Outcome
One of the most preventable causes of mental and growth retardation is congenital hypothyroidism (CH). This study tries to investigate growth and mental outcome of patients with CH. Since November 2006 and November 2007 in Guilan province, north of Iran,
Setila Dalili +8 more
doaj
Treatment for primary hypothyroidism: current approaches and future possibilities [PDF]
Ali J Chakera1, Simon HS Pearce2, Bijay Vaidya11Department of Endocrinology, Royal Devon and Exeter Hospital and Peninsula Medical School, Exeter, 2Endocrine Unit, Royal Victoria Infirmary and Newcastle University, Newcastle upon Tyne, UKAbstract ...
Vaidya B, Chakera AJ, Pearce SHS
core
Does Congenital Hypothyroidism Have Different Etiologies in Iran? [PDF]
Objective: To determine the prevalence of congenital hypothyroidism (CH), permanent and transient CH. Methods: From November 2006 to September 2007, 63031 newborns were screened by measuring serum TSH obtained by heel prick.
Amirhakimi, Gholamhossein +5 more
core
Reversible hypothyroidism and Whipple's disease [PDF]
Background The major cause of primary hypothyroidism is autoimmune mediated with progressive and permanent destruction of the thyroid gland resulting in life-long replacement therapy.
Tran Huy A, Huy A Tran
core +2 more sources
Background: The prevalence of congenital hypothyroidism (CH) is high in Isfahan (Iran). Considering the high rate of parental consanguinity and the role of dual oxidase 2 (DUOX2) gene in transient and permanent CH due to thyroid dyshormonogenesis, the ...
Omid Khoshnoud +8 more
doaj
Increased thyroid uptake on 18F-FDG PET/CT is associated with the development of permanent hypothyroidism in stage IV melanoma patients treated with anti-PD-1 antibodies. [PDF]
Frelau A +10 more
europepmc +1 more source
Transient congenital hypothyroidism : cut off value for diagnosis, median time for normalization of thyroid function and factors affecting the median time [PDF]
Purpose: To look into cut off value for earlier discrimination between transient and permanent hypothyroidism, to determine median time for thyroid function to normalize upon cessation of treatment in transient group and its affecting factors.
Hamid, Siti Hazlini Abdul Hamid
core +1 more source
High risk of congenital hypothyroidism in multiple pregnancies.
CONTEXT: In Italy, the surveillance of congenital hypothyroidism (CH) is performed by the Italian National Registry of Infants with CH (INRICH). Up to now, about 3600 infants with CH are recorded in the INRICH, and a high number of twins are included ...
Stazi MA +10 more
core

