Thyroid scintigraphy differentiates subtypes of congenital hypothyroidism

  title={Thyroid scintigraphy differentiates subtypes of congenital hypothyroidism},
  author={Chris Worth and Beverly E Hird and Lesley Tetlow and Neville Wright and Leena Patel and Indraneel Banerjee},
  journal={Archives of Disease in Childhood},
  pages={77 - 79}
Introduction UK screening for congenital hypothyroidism (CH) is based on dried blood spot Thyroid Stimulating Hormone (TSH). Scintigraphy may identify CH subtypes classified as dysplasia, gland in situ (GIS) and ectopia, but is not performed in all centres. We retrospectively investigated the role of scintigraphy to identify CH subtypes in a single tertiary centre cohort. Methods Babies who screened positive for CH between 2007 and 2017 were studied (n=418 of 534 783). Scintigraphy outcomes… 
Primary Congenital Hypothyroidism in Children Below 3 Years Old - Etiology and Treatment With Overtreatment and Undertreatment Risks, a 5-Year Single Centre Experience
The study retrospectively analysed data of 99 newborns with CH diagnosis, referred to the Endocrinology Outpatient Clinic of the Institute of Mother and Child in Warsaw, Poland from the CH screening program from 2017 to 2021 and confirmed the general efficacy of the CH diagnostic pathway and the timely implemented L-T4 therapy.
Different combinations of monoclonal antibodies and polyclonal antibodies in the design of neonatal hypothyroidism diagnostic kit
This study showed that polyclonal antibodies can detect the reference range of β-TSH in dried blood samples and can be used in the screening of neonatal hypothyroidism.
Myxedema Coma: Case Report and Literature Review
A 58-year-old male who presented to the emergency department after being found on the floor of his house was significant for myxedema coma and the patient was given levothyroxine with improvement of symptoms and mild change in thyroid hormone levels during hospitalization.


The Incidence and Clinical Features of Dual Thyroid Ectopia in Congenital Hypothyroidism.
Thyroid dual ectopia infants had lower mean bloodspot TSH compared to single ectopia and agenesis groups, and early functional activity in the ectopia groups with detectable serum free T4 concentrations is lost at 12 months when T4 requirements are the same as the agen Nemesis group.
Comprehensive Screening of Eight Known Causative Genes in Congenital Hypothyroidism With Gland-in-Situ
The etiology of CH with GIS remains elusive, with only 59% attributable to mutations in TSHR or known dyshormonogenesis-associated genes in a cohort enriched for familial cases.
Approach to the diagnosis and treatment of neonatal hypothyroidism.
  • S. Lafranchi
  • Medicine
    The Journal of clinical endocrinology and metabolism
  • 2011
Given the success of early detection and treatment of neonates with congenital hypothyroidism, a public health mandate should be to develop similar programs for the 75% of babies worldwide who are born in areas without newborn screening programs.
Genetic causes of congenital hypothyroidism due to dyshormonogenesis
Congenital hypothyroidism due to thyroid dyshormonogenesis is a heterogenic disorder that may be caused by mutations in any of the known steps in the thyroid hormone biosynthesis pathway and an exact molecular diagnosis allows genetic counseling and the identification of asymptomatic mutation carriers at risk of recurrent hypothyrogenism.
Pitfalls in the diagnosis of thyroid dysgenesis by thyroid ultrasonography and scintigraphy.
US alone could not differentiate ectopia and athyreosis, whereas scintigraphy alone is also prone to mistakes in newborns and young ages, which is important for precise structural definition of TD.