Contact Info
Blood Spot Disorders: Endocrine Disorders
Blood spot disorders screened in Minnesotan newborns are listed below. We provide fact sheets with disorder-specific information and next steps for both families and providers dealing with an abnormal newborn screening result. Also, specialist contact lists are provided for specific cases where the Newborn Screening Program recommends the primary care provider consult with a specialist for further follow-up recommendations.
See also the full list of blood spot disorders screened for in Minnesota. For more general information about blood spot screening, see our For Families and For Providers sections. Contact the Newborn Screening Program with questions.
Congenital adrenal hyperplasia (CAH)
FINDING
The hormone 17-hydroxyprogesterone (17-OHP) is at an elevated level.
OTHER ASSOCIATED DISORDERS
None
CAUSE
There is not enough of the 21-hydroxylase enzyme needed to make certain hormones that help control growth and development.
EARLY SIGNS
There are three types of CAH. If untreated, the most severe type can cause poor feeding, weight loss, sleepiness, dehydration, and vomiting. The loss of salt from the body can be life-threatening.
TREATMENT
Consists of medicine to regulate hormones.
DISORDER GROUP
Endocrine
SCREENING METHOD
Time-resolved fluoroimmunoassay
2nd tier: liquid chromatography-tandem mass spectrometry (LC-MS/MS) by Mayo Clinic Laboratories
FACT SHEETS
For Family - Positive result: CAH (PDF)
For Provider - Positive result: CAH (PDF)
SPECIALIST CONTACT LIST
Endocrinology specialist contact list (PDF)
Congenital hypothyroidism (CH)
FINDING
The hormone thyroid stimulating hormone (TSH) is at an elevated level.
OTHER ASSOCIATED DISORDERS
None
CAUSE
The thyroid gland is not working correctly. The thyroid gland makes thyroid hormone, which helps control growth and development.
EARLY SIGNS
There are usually no symptoms in the newborn period. If untreated, CH can cause jaundice, muscle weakness, learning disabilities, and delayed growth.
TREATMENT
Consists of medicine to regulate hormones.
DISORDER GROUP
Endocrine
SCREENING METHOD
Two site fluoroimmunometric assay
FACT SHEETS
For Family - Borderline result: TSH (PDF)
For Family - Positive result: CH (PDF)
For Provider - Positive result: CH (PDF)
SPECIALIST CONTACT LIST
Endocrinology specialist contact list (PDF)