Introduction: Congenial hypothyroidism due to thyroid dysgenesis is usually regarded as sporadic. However, a small but significant proportion of familial cases have been identified (2%). Herein, we describe a case report of unusually large family of 10 siblings, out of which five were affected with congenital hypothyroidism, which is supposed to be the world’s largest series of familial congeni...

background: congenital hypothyroidism (ch) is one of the most important causes of mental retardation in children and only if diagnosed early, its complications can be prevented. the worldwide incidence of congenital hypothyroidism is one in 3000-4000 live births but 2.2/1000 in iran.  the aim of this study was to determine the incidence of congenital hypothyroidism in kermanshah during 2006-201...

A recently uncovered X-linked syndrome, caused by loss-of-function of IGSF1, is characterized by congenital central hypothyroidism and macroorchidism, variable prolactin deficiency, occasional growth hormone deficiency, delayed pubertal testosterone secretion and obesity. We propose to call this endocrinopathy "IGSF1 deficiency syndrome." Based on an estimated incidence of isolated congenital c...

INTRODUCTION Thyroid gland diseases in children are in second place by frequency among all endocrine disorders. When interpreting the results of the thyroid function assessment it should be taken into account the significant differences in the concentrations of TSH, thyroid hormones, thyroid binding proteins and calcitonin among children of different ages. GOAL To present the age and sex stru...

Congenital hypothyroidism (CH) is the commonest cause of preventable developmental delay with an incidence of 1/3500-4500 newborns. The incidence of symptomatic cases has decreased dramatically in the developed countries with the advent of newborn screening. However, much work still needs to be done in the developing world in improving awareness and devising newborn screening strategies etc. In...

Unrecognized congenital hypothyroidism leads to mental retardation. Newborn screening and thyroid therapy started within 2 weeks of age can normalize cognitive development. The primary thyroid-stimulating hormone screening has become standard in many parts of the world. However, newborn thyroid screening is not yet universal in some countries. Initial dosage of 10 to 15 microg/kg levothyroxine ...

All the Italian Centres in charge of screening, diagnosis, and follow-up of infants with congenital hypothyroidism participate in the Italian National Registry of affected infants, which performs the nationwide surveillance of the disease. It was established in 1987 as a program of the Health Ministry and is coordinated by the Istituto Superiore di Sanità. The early diagnosis performed by the n...