TRANSIENT FAMILIAL CONGENITAL HYPOTHYROIDISM: ABOUT A SIBLING OF THREE

Introduction:Congenitalhypothyroidismis one of the mostcommonpreventable causes of intellectualdisability. It isclassifiedinto permanent and transient. The transientdisorderrefers to atemporarydeficiency of thyroid hormones at birth but thenrecovering to normal thyroid hormone production.Wewillpresent a case of congenitalhypothyroidism in a sibling of three.

Case Report:Symptomatologyseems to date back to the age of 2 months in the first two siblings for whichtheywerehospitalized in pediatrics for hypotonia and macroglossiaassociated to anemia.Contrastingwith the youngest sibling whowasscreened at day 7 of life .Biologicalfindingsrevealedhypothyroidism.Supplemented by ultrasoundshowing a normal thyroid volume, whilethyroidscintigraphyrevealed a moderatelyreduced fixation.Theywere all put on Levothyroxin. However, wenoted a spontaneousimprovement in theyoungestbrotherleading to cessation of hormone replacement therapy at the age of 5.

Discussion:Whilethyroiddysgenesisremains the mostcommon cause of congenitalhypothyroidism, theincidence of dyshormonogenesis has been increasing over the last few decades.Transienthypothyroidismmaybecaused by mutations in the genesencodingessentialy forDUOX2/DUOXA2 suspected in our sibling due to the transientcaracter in youngerbrother.However, mutations in pendrine, sodium iodinesymporter, thyroidperoxidade, thyroglobulingenes are oftenassoxiatedwithgoiter and severe permanent hypothyroidism.Finally, new born screening and effective treatmentis a major achievement in preventivemedicine.