Acquired Hypothyroidism in Children.

Acquired hypothyroidism is generally also referred to as juvenile hypothyroidism. Hypothyroidism is due to the deficient secretion of thyroid hormones causing metabolic and neurological sequelae at the cellular level. It can present as overt hypothyroidism wherein the thyroid hormones (T4 and T3) secretion fall and thyrotropin (TSH) rises.

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia.

BNIP1 (BCL2 interacting protein 1) is a soluble N-ethylmaleimide-sensitive factor-attachment protein receptor involved in ER membrane fusion. We identified the homozygous BNIP1 intronic variant c.84+3A>T in the apparently unrelated patients 1 and 2 with disproportionate short stature.

Thyroid disorders in pregnancy.

Thyroid disorders are common in pregnancy and the most common disorder is subclinical hypothyroidism. Due to the complex hormonal changes during pregnancy, it is important to remember that thyroxine requirements are higher in pregnancy. According to recent American Thyroid Association (ATA) guidelines, the recommended reference ranges for TSH are 0.