Central Congenital Hypothyroidism due to Gestational Hyperthyroidism: Detection Where Prevention Failed

Congenital nystagmus and central hypothyroidism

We observed a male newborn with bilateral nystagmus and central hypothyroidism without hypoprolactinemia due to a deletion of chromosome band Xq26.1q26.2, containing FRMD7 and IGSF1. These two loss-of function mutations are known to cause, respectively, congenital nystagmus and the ensemble of central hypothyroidism, hypoprolactinemia and testicular enlargement. These latter two features may no...

Congenital hypothyroidism and hyperthyroidism in monozygotic twin girls.

This report describes monozygous twin girls with different forms of thyroid dysfunction. Twin A was found to have athyreotic hypothyroidism during the first week of life; twin B developed acute hyperthyroidism at 16 years of age. While concordance and discordance for congenital hypothyroidism has been reported in several sets of twins (Table I) there have been no prior reports of congenital hyp...

Congenital Central Hypothyroidism due to a Homozygous Mutation in the TSHβ Subunit Gene

Congenital central hypothyroidism (CCH) is a rare condition occurring in 1 : 20000 to 1 : 50000 newborns. As TSH plasma levels are low, CCH is usually not detected by TSH-based neonatal screening for hypothyroidism, and, as a result, diagnosis is often delayed putting affected children at risk for developmental delay and growth failure. We report on a girl with isolated central hypothyroidism d...

Early detection of congenital hypothyroidism

Congenital hypothyroidism, with an estimated incidence of 1 in 5-10 000 births, is probably the commonest endocrine disorder of early childhood. Its importance lies in the devastating effect which it can have on brain development, leading to subnormality and other manifestations such as clumsiness and hyperactivity. It is common experience that the condition is difficult or impossible to recogn...

[Early detection of congenital hypothyroidism].