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.

Evaluation of factors associated with elevated newborn 17-hydroxyprogesterone levels.

Background: Measurement of 17-hydroxyprogesterone (17-OHP) in dried blood spots has been widely used as a newborn screening tool for congenital adrenal hyperplasia (CAH). Various maternal and neonatal factors can result in falsely high values of 17-OHP. There is a paucity of Indian studies in this regard because routine evaluation of newborn 17-OHP levels as a screening program is not widely practiced in India.

Precocious pseudopuberty due to ovarian causes.

Background: It is important to differentiate central from peripheral causes of precocious puberty because of distinct management options.

Case Characteristics: 4 girls with discordant pubertal development.

Observations: All had low basal and GnRHa stimulated FSH and LH level with high estradiol level.

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.