Previous studies of congenital hypothyroidism have suggested an increasing incidence and seasonal variation in incidence, which may suggest nongenetic factors involved in aetiology. This study describes the incidence of elevated thyroid stimulating hormone (TSH) values in newborns, a surrogate for congenital hypothyroidism, measured as part of the screening programme for congenital hypothyroidi...

A 11-year-old boy with hypothyroidism developed generalized muscle hypertrophy and proximal muscular weakness. Electromyographic findings were suggestive of myopathy. He had had congenital nystagmus (CN) since early infancy. Although the association of childhood hypothyroidism and CN has been documented before, the triad of hypothyroidism, hypertrophic myopathy and CN exhibited by the patient i...

Endocochlear, retrocochlear and/or central origin hearing damage may be related to the absence of appropriate levels of thyroid hormone during morphogenesis and/or auditory system development. Hearing disorders related to the thyroid are not well studied, despite speculation on the pathophysiological mechanisms. The objective of this review was to characterize the main pathophysiological mechan...

Neonatal screening is an essential preventative public health program, and is the standard practice of care world– wide. India is yet to start any publicly funded program despite this having been established in many countries for over 50 years. The purpose of neonatal screening is to reduce morbidity and mortality in the newborn. Detection must have a clear benefit for the baby and be cost effe...

An 8-year-old girl presented with history of delayed milestones, severe malnutrition, decubitus ulcers over buttocks and elbows, and severe constipation. She was a product of nonconsanguineous marriage with no significant perinatal history. On examination, she had coarse facial features, bilateral convergent squint, thickened dry skin, delayed dentition and non pitting pedal edema. She had seve...

In a study designed to provide retrospective control data for a neonatal thyroid screening programme, the problems of 141 hypothyroid children were examined. The mean IQ (Weschler intelligence scale) was 79.5 for children with congenital hypothyroidism but was normal in 6 children diagnosed before age 6 weeks. Diagnostic delay was associated with a steady decline in mean IQ but there was an imp...

The development of efficient micromethod assay systems for thyroid hormones and thyroid-stimulating hormone makes possible detection of this condition in the neonate, when clinical signs seldom arouse suspicion. Starting treatment by age three months has been shown to prevent severe intellectual deficit; thus mass screening can be considered cost-effective as compared with outlays for special c...

In his 1991 article "Screening for Congenital Hypothyroidism," Delbert A. Fisher in the US reported on the implementation and impact of mass neonatal screening programs for congenital hypothyroidism (CH) from the early 1970s through 1991. CH is a condition that causes stunted mental and physical development in newborns unless treatment begins within the first three months of the newborn's life....

BACKGROUND A highly variable phenotype characterized by thyroid, respiratory and neurological defects has been reported in an already established group of disorders namely NKX2.1-related disorders. We describe here the case of an infant with a novel mutation of the NKX2.1 gene characterized by mild clinical presentation. Aim of the study was to elucidate the genotype-phenotype correlation in ou...

These updated ENDO-European Reference Network (ENDO-ERN), European Society for Paediatric Endocrinology (ESPE) and (ESE) guidelines congenital hypothyroidism will serve as comprehensive review of the literature providing recommendations to all aspects disease.