Three siblings with self-resolving congenital hyperthyrotropinaemia secondary to thyrotropin receptor blocking antibodies. 2010

Peter Azzopardi, and Mike Forrester, and Sarah Ehtisham
Paediatric Registrar, Royal Children's Hospital, Melbourne, Victoria, Australia. peter.azzopardi@rch.org.au

Thyrotropin receptor blocking antibodies are a rare cause of hyperthyrotropinaemia and more rarely of congenital hypothyroidism. We report a case of hyperthyrotropinaemia but normal thyroid hormone in the newborn of a mother with hypothyroidism treated with thyroxine. Two older siblings had similar high thyrotropin and normal thyroid function in the newborn period which did not require hormone treatment and resolved spontaneously. Demonstration of thyrotropin receptor antibodies in the child confirmed our diagnosis. Our case was not treated with thyroid replacement hormone and has remained biochemically euthyroid, with thyrotropin levels returning to normal over a period of months.

UI MeSH Term Description Entries
D006981 Hyperthyroxinemia Abnormally elevated THYROXINE level in the BLOOD. Hyperthyroxinemias
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D008403 Mass Screening Organized periodic procedures performed on large groups of people for the purpose of detecting disease. Screening,Mass Screenings,Screening, Mass,Screenings,Screenings, Mass
D011989 Receptors, Thyrotropin Cell surface proteins that bind pituitary THYROTROPIN (also named thyroid stimulating hormone or TSH) and trigger intracellular changes of the target cells. TSH receptors are present in the nervous system and on target cells in the thyroid gland. Autoantibodies to TSH receptors are implicated in thyroid diseases such as GRAVES DISEASE and Hashimoto disease (THYROIDITIS, AUTOIMMUNE). Receptors, Thyroid Stimulating Hormone,TSH Receptors,Thyroid Stimulating Hormone Receptors,Thyrotropin Receptors,LATS Receptors,Receptor, LATS Immunoglobulins,Receptors, LATS,Receptors, Long-Acting Thyroid Stimulator,Receptors, TSH,TSH Receptor,Thyroid Stimulating Hormone Receptor,Thyrotropin Receptor,Receptor, TSH,Receptor, Thyrotropin,Receptors, Long Acting Thyroid Stimulator
D003409 Congenital Hypothyroidism A condition in infancy or early childhood due to an in-utero deficiency of THYROID HORMONES that can be caused by genetic or environmental factors, such as thyroid dysgenesis or HYPOTHYROIDISM in infants of mothers treated with THIOURACIL during pregnancy. Endemic cretinism is the result of iodine deficiency. Clinical symptoms include severe MENTAL RETARDATION, impaired skeletal development, short stature, and MYXEDEMA. Cretinism,Myxedema, Congenital,Endemic Cretinism,Fetal Iodine Deficiency Disorder,Cretinism, Endemic,Hypothyroidism, Congenital
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D013972 Thyrotropin A glycoprotein hormone secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Thyrotropin stimulates THYROID GLAND by increasing the iodide transport, synthesis and release of thyroid hormones (THYROXINE and TRIIODOTHYRONINE). Thyrotropin consists of two noncovalently linked subunits, alpha and beta. Within a species, the alpha subunit is common in the pituitary glycoprotein hormones (TSH; LUTEINIZING HORMONE and FSH), but the beta subunit is unique and confers its biological specificity. Thyroid-Stimulating Hormone,TSH (Thyroid Stimulating Hormone),Thyreotropin,Thyrotrophin,Hormone, Thyroid-Stimulating,Thyroid Stimulating Hormone
D015997 Neonatal Screening The identification of selected parameters in newborn infants by various tests, examinations, or other procedures. Screening may be performed by clinical or laboratory measures. A screening test is designed to sort out healthy neonates (INFANT, NEWBORN) from those not well, but the screening test is not intended as a diagnostic device, rather instead as epidemiologic. Infant, Newborn, Screening,Newborn Infant Screening,Newborn Screening,Neonatal Screenings,Newborn Infant Screenings,Newborn Screenings,Screening, Neonatal,Screening, Newborn,Screening, Newborn Infant,Screenings, Neonatal,Screenings, Newborn,Screenings, Newborn Infant

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