Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at
birth due to insufficient stimulation by the pituitary of the thyroid gland. The incidence of …

Thyroid hormone (TH) is indispensable for brain development in utero and during the first 2–
3 years of life, and the negative effects of TH deficiency on brain development are …

Context Central congenital hypothyroidism (CCH) is a thyroid hormone deficiency at birth
caused by inadequate pituitary stimulation of the thyroid gland. Although primary congenital …

The spectrum of thyroid disorders presenting to paediatricians is different to that seen by
adult physicians. Referrals reflect cases detected by the neonatal screening programme for …

Thyroid disorders represent a significant global health challenge with hypothyroidism and
hyperthyroidism as two common conditions arising from dysfunction in the thyroid gland …

Central congenital hypothyroidism (CH) can occur as an isolated deficiency or as part of
combined pituitary hormone deficiency. Unlike primary CH, central CH cannot be detected …

Introduction: Congenital central hypothyroidism (CCH) is a rare disorder that can be caused
by X-linked mutations in the immunoglobulin superfamily member 1 (IGSF1) gene. Here, we …

Newborn screening is an important public health program and a triumph of preventive
medicine. Economic analyses show that the benefits of newborn screening clearly outweigh …

Context Central congenital hypothyroidism (CH) requires lifelong medical treatment. The
majority of children with central CH have multiple pituitary hormone deficiencies (MPHD) …

Methods In the Netherlands, DNA analysis for isolated central CH genes is centralized and
only performed at the Amsterdam UMC Genome Diagnostics laboratory. All newly identified …