ABSTRACT
Neonatal screening for congenital hypothyroidism (CH) is based on the measurement of thyroid-stimulating hormone (TSH) in whole dried blood samples on filter paper in all newborns. The objective of screening for CH is to prevent mental retardation, which is irreversible in the event of a late diagnosis, by setting up prompt treatment (before day 15) with levothyroxine. The threshold value of TSH on filter paper on day 3 is 17 mIU/L in France in the GSP method (GSP, Genetic Screening Processor, Perkin Elmer): It is one of the highest thresholds used in the world. In many countries, the TSH threshold is between 6 and 12 mIU/L. Studies have found that a threshold of > 17 mIU/L may miss as much as 30% of cases of CH, with 30-80% of these being permanent CH. Recent studies suggest that mild CH (currently missed by the French TSH threshold) is associated with cognitive consequences if left untreated. An inverse relationship between TSH at screening (below the current threshold) and cognitive development at preschool or school age has been shown. These studies advocate for the evaluation of a lowering of the threshold of TSH on filter paper in France: (a) to determine the number of CH diagnoses with the new threshold and whether these "new cases" would be transitory or permanent; and (b) to analyze the cost-effectiveness of the strategy.
Subject(s)
Congenital Hypothyroidism , Neonatal Screening , Congenital Hypothyroidism/complications , Congenital Hypothyroidism/diagnosis , France , Humans , Infant, Newborn , Neonatal Screening/methods , ThyrotropinABSTRACT
The clinical presentation of adrenal hemorrhage varies, depending on the extent of hemorrhage as well as the amount of adrenal cortex involved by the hemorrhage. We report here a case of neonatal adrenal hemorrhage revealed by late onset of neonatal jaundice. This adrenal hemorrhage most probably resulted from shoulder dystocia. The aim of this work was to focus on the fact that jaundice can be caused by adrenal hemorrhage and to emphasize the crucial importance of abdominal ultrasound in cases of persistent jaundice.
Subject(s)
Adrenal Gland Diseases/complications , Hemorrhage/complications , Jaundice, Neonatal/etiology , Adrenal Gland Diseases/blood , Adrenal Gland Diseases/diagnosis , Adrenal Gland Diseases/therapy , Adrenal Insufficiency/blood , Adrenal Insufficiency/diagnosis , Adrenal Insufficiency/therapy , Adrenocorticotropic Hormone/blood , Dystocia/diagnosis , Female , Follow-Up Studies , Hemorrhage/diagnosis , Humans , Hydrocortisone/therapeutic use , Infant, Newborn , Jaundice, Neonatal/blood , Jaundice, Neonatal/diagnosis , Jaundice, Neonatal/therapy , Male , Pregnancy , UltrasonographySubject(s)
Cystic Fibrosis/complications , Diabetes Mellitus/drug therapy , Diabetes Mellitus/etiology , Hypoglycemic Agents/therapeutic use , Adolescent , Adult , Child , Child, Preschool , Diabetes Mellitus/diagnosis , Diagnosis, Differential , Glucose Intolerance , Humans , Infant , Infant, Newborn , Risk FactorsABSTRACT
Most of the time congenital hypothyroidism appears as a sporadic disease. In addition to the rare defects in hormonosynthesis associated with goiters, the causes of congenital hypothyroidism include agenesis and ectopy of the thyroid gland. The study of some familial cases has allowed the identification of a few genes responsible for congenital hypothyroidism. We report here a familial case of congenital hypothyroidism, transmitted as a recessive trait, and caused by a homozygous mutation in the thyrotropin receptor (TSH-R). The initial diagnosis of thyroid agenesis, based on the absence of tracer uptake on scintiscan, was incorrect, because ultrasound examination identified severely hypoplastic thyroid tissue in the cervical region.
