Primary congenital hypothyroidism
(CH) refers to low levels of thyroid hormones in the neonate's blood, which may lead to irreversible complications such as mental retardation and deafness.
(CHT) results from an absent or underdeveloped thyroid gland (dysgenesis), or the gland has developed but cannot produce enough thyroid hormone (dyshormonogenesis).
'We have also developed a SPED registry and a screening programme for congenital hypothyroidism
. The latter would be launched across Sindh with the support of the government which has committed Rs168 million,' said Prof Jamal Raza.
Newborn screening for rare diseases such as congenital hypothyroidism
, CHT, a disease that limits the production of hormones by the thyroid gland, is mandatory in China, Europe, the US, and Canada.
 Furthermore, in India, the incidence of congenital hypothyroidism
(CH) is 2.1  and the rate of glucose 6 phosphate deficiency is 2-7.8%.
(11) Newborn infants can also present with congenital hypothyroidism
; however, though this condition is perhaps the most common metabolic disorder in infants, it is relatively easy to treat compared with other metabolic or hereditary diseases.
13 Congenital hypothyroidism
SOMETIMES babies are born with hypothyroidism, possibly because the thyroid hasn't developed or because it doesn't form thyroid hormones properly.
"For example, in congenital hypothyroidism
, which refers to underactive thyroid glands, the treatment is as simple as giving a drop of thyroxine.
Successive screenings to detect congenital hypothyroidism
in preterm infants are key to identifying cases that would otherwise lead to permanent and decompensated hypothyroidism, reported Niamh McGrath, MD, of the department of pediatric endocrinology at Children's University Hospital, Dublin, and her associates in the Journal of Pediatrics.
Newborn screening for primary congenital hypothyroidism
is part of the U.S.
One of the common causes of mental retardation in children is congenital hypothyroidism
, if detected early intellectual disability can be prevented.