Congenital Hypothyroidism (CH)

Section 661.330  Congenital Hypothyroidism (CH) a)         Interpretation of Results.  Although the majority of infants affected by CH will be identified by this screening, due to genetic variabilities and variations in health status, specimen quality, and timing of specimen collection, not all infants affected by the disorder may be identified.  As with any laboratory test, false positive and false negative results are possible.  Newborn screening test results are insufficient information on which to base diagnosis or treatment. 1)         Neonatal levels for thyroid stimulating hormone (TSH) vary with gestational age, birth weight, time of collection and in response to concurrent medical problems.  Normal TSH and normal thyroxine (T4) levels shall be established using accepted statistical techniques (for example, as described by the Association of Public Health Laboratories, see Section 660.20). 2)         When the TSH level or the T4 level is deemed to be abnormal, the Department will recommend a repeat newborn blood spot screening test or referral of the newborn to a designated pediatric endocrinologist for further evaluation for CH and additional serum testing for thyroid function. b)         Designation of Medical Specialist. In addition to the minimum qualifications set out in Section 661.230, medical specialists designated by the Department to follow-up on a screen positive for CH shall possess training in pediatric endocrinology with certification of special competence in pediatric endocrinology by the American Board of Pediatrics. c)         Diagnosis and Treatment.  Medical management by a designated pediatric endocrinologist is highly recommended.  Replacement therapy with thyroid hormone is currently the standard treatment.  Long-term follow-up of children with CH is necessary to adjust medication and to assess growth and development.