What are Endocrine Conditions?
The purpose of our endocrine system is to create, store, and release hormones into our bloodstream in order to regulate body functions. Examples of endocrine glands include; the thyroid, parathyroid, pituitary, pineal, adrenals, hypothalamus, and the gonads. If a gland produces not enough or too much of a hormone, an imbalance may occur that can result in an endocrine condition. Newborn screening will be performed on your baby prior to leaving the hospital, or within 5 days after a home birth. Newborn screening can identify an abnormal endocrine result. Congenital adrenal hyperplasia and congenital hypothyroidism are two endocrine disorders that included in the newborn screening panel in Indiana.
What is Congenital Adrenal Hyperplasia (CAH)?
CAH is an inherited condition that affects the adrenal glands. The adrenal glands are organs that are located above the kidneys that produce chemicals such as cortisol. Cortisol is needed to regulate blood sugar and is an essential chemical needed to protect the body from illness and stress. CAH causes the adrenal glands to become larger than normal and prohibits them from producing chemicals including cortisol. To compensate from this chemical deficiency, the adrenal glands begin producing excessive amounts of androgen hormone. Androgen is a hormone that is used in the production of male sex traits. In females, this overproduction can cause abnormal sex traits. About 1 in 15,000 babies is born with this condition each year in the US. Treatment may include medication, supplements, and possibly genital surgery.
What is Congenital Hypothyroidism (CH)?
CH is an inherited condition that affects the thyroid gland. The thyroid gland is an organ that is located in the lower region of the neck. It produces thyroid hormone which plays an important role in brain development and metabolism. Babies with CH are born without the thyroid gland, or have the gland, but it is not functioning properly. CH can cause fatigue and developmental delays. About 1 in 4,000 babies are born with this condition each year in the US. Treatment usually involves thyroid hormone replacement medication and dietary adjustments.
What Does a Positive CH or CAH on the Newborn Screening Mean?
Newborn screening can identify an abnormal endocrine result. If the result is abnormal, further testing will be arranged for confirmation. It is important that the additional testing is performed in a timely manner in order to ensure that the baby receives proper treatment. Early treatment of these conditions can make all the difference in the long-term health outcomes for each baby.
Information for Families
Newborn screening consists of Heel Stick / Bloodspot Screening. Before every baby goes home from the nursery, he or she has a small amount of blood taken from his or her heel. This is called the heel stick. The blood is collected on the newborn screening card and referred to as the dried blood spot (DBS) sample. The DBS sample that is collected is used to screen for over 50 rare genetic conditions. If anything, concerning is found, the Newborn Screening Laboratory contacts the baby’s doctor.
Information for Providers
It is the responsibility of the physician or midwife, whoever oversees the birth, to educate the family about the importance of each of the three (3) screens, and ensure the family is referred to have the screens performed. In the case that the family wishes to refuse one, two, or all three of the screens, it is the responsibility of the physician or midwife to have the parents complete and sign a Religious Waiver and enter this as an exception within your MSR (upload the completed Religious Waiver within the exception when prompted). Midwives, doulas, and other birth attendants are required by the state of Indiana to ensure newborn screening occurs and is reported to IDOH GNBS for each infant delivered. This means every midwife must be set up to submit Monthly Summary Reports (MSRs) in INSTEP.
For more information about MSRs, contact the Genomics and Newborn Screening Program by calling us at 888-815-0006 or emailing us at ISDHNBS@isdh.in.gov.
If you need help with newborn screening, contact the Genomics and Newborn Screening Program by calling us at 888-815-0006 or emailing us at ISDHNBS@isdh.in.gov
Additional Endocrine Resources:
Centers for Disease Control and Prevention: https://wwwn.cdc.gov/TSP/substances/ToxOrganListing.aspx?toxid=4
National Organization of Rare Diseases: https://rarediseases.org/rare-diseases/congenital-adrenal-hyperplasia/
American Thyroid Association: https://www.thyroid.org/congenital-hypothyroidism
Page last revised on 02/02/2022 by DWard