1. A 14-year-old male from Tondo, Leandro, was seen at thehospital because of delayed development. His mother recalls thatwhen he turned 6 months old, he could not hold his head up whenother babies aged 3 months old could do so. At age 13 months, hismother told the doctor that unlike other children of the same age,Leandro could not utter comprehensible words and could not walk.Upon further prodding by the doctor, the mother claimed that forthe last few months, Leandro was having difficulty defecating andthat his hair was scanty, coarse, and brittle prompting her toshave it anyway. The doctor then proceeded with his physicalexamination. He noted that Leandro had macroglossia, enlargedabdomen, and small for his age. At this point, the mother showedthe doctor Leandro’s newborn screening result which confirmed thedoctor’s diagnosis of congenital hypothyroidism.
a. Describe congenital hypothyroidism including its pathophysiologyand relate it to Leandro’s physical findings and delayeddevelopment.
b. What could happen to Leandro if he is not managedproperly?
c. Congenital hypothyroidism (CH) is part of the newborn screening(NBS) program of the Philippines. It is one of 6 disorders that aredetected in the basic NBS kit. Enumerate the other 5 disordersdetected in the NBS kit.
d. Enumerate the differences between the basic NBS kit and thenewly introduced expanded NBS kit.
e. As a future medical technologist, are you allowed to performnewborn screening to a patient? If no, who else can perform it? Ifyes, which legal document authorizes you to perform the test?
f. Will you consider having your future child undergo newbornscreening? If no, why not? If yes, which would you prefer, thebasic or the expanded?
