most cases of congenital hypothyroidism ( ch ) are not hereditary and results from thyroid dysgenesis , maternal ingestion of antithyroid drugs , goiterogens , transplacental passage of maternal antibodies and rare causes like activating mutations of the tsh receptor , activating mutations of the g - protein-subunit ( mccune albright syndrome ) , tumors . even in the hereditary forms of goiter and thyroid dysfunction that often accompanies it may not be evident at birth . the prevalence of the ch based on nationwide programs for neonatal screening is 1/4000 infants worldwide . dysharmonogenesis represents 10 - 15% of all the causes of ch and most neonates would exhibit a relatively large goiter . majority of case reports on neonatal goiter in literature were based on recording of fetal goiter by antenatal scans which is dependent on radiologist 's expertise . furthermore there is lack of ultrasonograph machines and qualified manpower to carry out routine antenatal scans in resource poor nations . some of the highest incidences ( 1 in 1400 to 1 in 2000 ) have been reported from various locations in the middle east . as per the second conference of the mena ( middle east and north africa ) newborn screening initiative held in cairo , arab republic of egypt on april 12 to 14 , 2008 ch was selected for initiating newborn screening programs because of its high prevalence , availability of the screening methods , and cost - effective intervention . on the basis of current status of newborn screening , countries were divided into three groups . bahrain , egypt , oman , qatar , saudi arabia , uae , the palestienian authority ( group 3 ) screen for atleast 1 condition primarily ch and most screen for two or more conditions . both qatar and saudi arabia use tandem mass spectrometry for a large panel of metabolic conditions . jordon , kuwait , lebanon , tunesia ( group 2 ) have completed pilot studies for atleast 1 condition and anticipated expansion to national programs . a 6-day - old male baby born to a 21 year old primigravida having normal antenatal course and clinically euthyroid with no past history of thyroid disease and not on any antithyroid medications , with normal thyroid levels in the present pregnancy , delivered by cesarean section due to delayed progression of labor with birth weight of 2.5 kgs , presented to our hospital with delayed passage of meconium even after 5 days of birth , decreased activity , distension of abdomen , difficulty in latching onto breasts . on admission baby had stable vitals and general examination revealed midline swelling in the neck , which is soft , mobile , noncystic , without inflammatory signs and no bruits was audible . on per abdomen examination , there was soft distension , without hepatosplenomegaly or ascites . investigations revealed hb 15.9 gm% , pcv 49.9 , tc 3730 , platelet count 3.4 , sbr 15.9/0.79 , rbs 150 mg / dl , crp negative , xr abdomen normal , free t3 < 0.04 pg / ml ( normal 147.850.1 ng / dl ) , free t4 0.18 ng / dl ( normal 2.70.6 ng / dl ) , tsh > 40 iu / ml ( normal 2.61.8 iu / ml ) , x - ray of knee showing absence of the distal femoral epiphysis [ figure 1 ] , postnatal ultrasound of thyroid showed diffuse enlargement of thyroid gland . further genetic tests were not done due to financial constrains and lack of genetic testing facility . newborn with prominent neck swelling and x - ray of knee joint a diagnosis of neonatal dysharmonogenitic goiter with hypothyroidism was made . thyroxin started on 8 day of life at 15 mcg / kg / day and by 15 day decreased in the size of the goiter with regular passage of motions and good cry and activity was noticed . although the diagnosis of neonatal neck mass can be made on clinical grounds and with imaging , recognizing a mass may not be easy due to difficulty of examining the neck of neonates and insidious growth of some lesions . neck masses in the newborns may be differentiated by their location and include the following : cystic hygroma ; lymphangioma that is the most common lymphatic malformation in children , typically presents as a painless , transilluminated , soft mass located superior to the clavicle ; branchial cleft cysts , palpated along the anterior margin of the sternocleidomastoid muscle ; hematomas , which may be the cause of mass in the lower portion of the neck ; thyroglossal duct cyst or enlarged thyroid that may present with a midline neck mass . the clinical findings presenting with goiter vary from asymptomatic to enlarged thyroid volume causing stridor , cyanosis and respiratory distress by airway obstruction that can be a serious emergency . thyroid dysgenesis ( aplasia , hypoplasia or an ectopic gland ) is the most common cause of ch , accounting for 85% of cases ; 10% are caused by an inborn errors of thyroxin synthesis , and 5% are the result of transplacental thyrotropin receptor blocking antibodies ( trbab ) . ( nelson ) transient ch may occur when drugs prescribed for the mother such as propylthiouracil , methimazole or iodides cross the placenta and block the fetal thyroid gland . a variety of defects in the biosynthesis of thyroid hormone results in ch ; defects may be of iodide transport , organification and coupling , deiodination and thyroid hormone transport . three transcription factors ttf-1 , foxe 1 , and pax-8 are important for thyroid morphogenesis and differentiation ; mutations in these genes are associated with thyroid dysgenesis . another transcription factor nkx2.1 has been reported to result in ch with persistent neurological problems including ataxia , despite early thyroid hormone treatment . the initial dose of thyroxin in a term infant is 50 g ms daily for the first 1 - 2 weeks and should be started promptly at the initial visit when screening results are abnormal and serum sample have been sent for confirmatory tests . at the end of 2 to 4 week , serum t4 and tsh values should be measured to determine that the amount of l - thyroxin is adequate but not excessive . therapy should be adjusted to maintain the serum t4 levels during infancy in the upper half of the normal range to optimize developmental outcome . concomitant administration of soy formula , calcium , iron and high fiber foods may interfere with absorption of the l - thyroxin and should be avoided when possible . discontinuation of l - thyroxin therapy for 4 weeks duration sometime after 3 years of age is a way of testing for transient ch . although some experts suggest the use of radioisotope studies for all infants with suspected ch , others do not , and the thyroid scan is listed as an optional diagnostic study on the most recent american academy of pediatrics ( aap ) guidelines . as per the aap guidelines , child is monitored for t4 and tsh values every 1 - 2 months for up to 6 months , every 3 - 4 months from 6 - 12 months and every 6 - 12 months from 3 years to completion of the growth . the presence of goiter in a newborn with primary hypothyroidism suggests transient hypothyroidism or intrinsic defect in thyroid hormone synthesis . since mother is euthyroid and not on any antithyroid drugs , dysharmonogenesis was considered to be the most probable cause of the hypothyroidism . in this case , diagnosis and treatment of goiter due to hypothyroidism occurred even earlier than most of other reported cases due to unusual presentation of thyroid mass in the neck . the long - term follow - up in children with levothyroxine have shown normal mean iq values , satisfactory school performance and minimal motor dysfunction . however , speech defects and minimal cns defects have been reported . infants who are treated adequately for ch since the first month of age have an excellent prognosis for normal intellectual function and linear growth . infants who have prolonged fetal hypothyroidism , delayed skeletal maturation and low t4 values are most likely to have neurocognitive problems . the overall goals of treatment are to assure normal growth and development and psychometric outcome similar to genetic potential , by restoring the serum t4 concentration as rapidly as possible to a normal range followed by continued clinical and biochemical euthyroidism . compliance to treatment plan , periodic follow - up care and adjustment of therapy are essential for a good outcome . goiter in newborn infants are not seen frequently but all pediatricians who deal with neonates should be in a position to recognize the syndrome , understand its cause and prognosis and to advise therapy .
congenital goiter presenting in the newborn period is very rare . 
 we present a case of primary hypothyroidism presenting as congenital goiter in the newborn period with symptoms in the immediate postnatal life . 
 hormone replacement therapy was started leading to normal levels of free thyroxine and triiodothyronine . in face of maternal normal thyroid levels , dysharmonogenesis was considered to be the most probable cause of hypothyroidism .