MANAGEMENT OF ENDOCRINE DISEASE Subclinical hypothyroidism in children

Abstract

<jats:p>Subclinical hypothyroidism (SH) is biochemically defined as serum TSH levels above the upper limit of the reference range in the presence of normal free T4 (FT4) concentrations. While there is a general agreement to treat subjects with serum TSH levels above 10 mU/L, the management of mild form (TSH concentrations between 4.5 and 10 mU/L) is still a matter of debate. In children, mild SH is often a benign and remitting condition and the risk of progression to overt thyroid dysfunction depends on the underlying condition, being higher in the autoimmune forms. The major concern is to establish whether SH in children should always be considered an expression of mild thyroid dysfunction and may deserve treatment. Current data indicate that children with mild SH have normal linear growth, bone health and intellectual outcome. However, slight metabolic abnormalities and subtle deficits in specific cognitive domains have been reported in children with modest elevation of TSH concentration. Although these findings are not sufficient to recommend levothyroxine treatment for all children with mild SH, they indicate the need for regular monitoring to ensure early identification of children who may benefit from treatment. In the meanwhile, the decision to initiate therapy in children with mild SH should be based on individual factors.</jats:p>

Analysis of Mutation Spectra of 28 Pathogenic Genes Associated With Congenital Hypothyroidism in the Chinese Han Population

“…Current guidelines recommend that if the serum free T4 (fT4) concentration is reduced and thyroidstimulating hormone (TSH) is significantly increased, levothyroxine (LT4) treatment should be started immediately (7). However, for CH with elevated serum TSH and normal fT4, the requirement for LT4 treatment remains controversial (8,9). Currently, better methods to identify such42 conditions do not exist; thus, genetic screening may be helpful (10).…”

Screening of frequent variants associated with congenital hypothyroidism: a comparison with next generation sequencing

“…Target genes for Sanger sequencing should be carefully considered to improve its performance. TSHR p.Arg450His is frequent in East Asia [18,[28][29][30] and comprises 70% of all Japanese TSHR variants [5]. Patients with TSHR p.Arg450His showed moderately decreased TSH binding and cAMP response [24,26], and presented with thyroid morphology indicating mild CH.…”

“…TCH was defined as a condition requiring transient hormone therapy during the early stages of life and included patients who discontinued l-T4 therapy at 3 years of age and did not require l-T4 re-administration for more than 1 year after l-T4 discontinuation [1,16,17]. Patients with TSH ≥10 μIU/mL at <6 months after birth or TSH ≥5 μIU/mL at 12 months after birth were categorized as having SCH [1,18]. Other patients were categorized as undecided.…”

A Novel Approach to Improve Newborn Screening for Congenital Hypothyroidism by Integrating Covariate-Adjusted Results of Different Tests into CLIR Customized Interpretive Tools

“…Newborn screening (NBS) for congenital hypothyroidism (CH) has been performed globally since the 1970s, but despite broad worldwide implementation and a limited range of analytical methods, there is surprisingly little consensus around the testing protocols in place for reporting abnormal results [ 1 , 2 ]. With the additional uncertainty around the long-term benefits of treatment and follow-up for mild CH [ 3 , 4 , 5 ], a consensus approach to interpretation of the initial screening results has evolved to a strategy of minimizing false negative (FN) screening results [ 5 , 6 ]. The consequence for sites choosing to screen more broadly than consensus guidelines recommend [ 7 ] is perhaps the highest false positive (FP) rate of any NBS disorder [ 8 ], and there is a pervasive lack of standardized screening.…”