Treatment of Congenital Disorders of Endocrine System

About the disease

Congenital disorders of the endocrine system are passed on by parents to children and disrupt the normal production of hormones in the body. Hormones are vital for transforming calories into energy, assist in the development of bones and tissue and ensure the normal functioning of the heart and reproductive system. The endocrine system is made up of glands that each has a different function; the most important being the adrenal and parathyroid glands, the hypothalamus and the ovaries. The thyroid and thymus glands are also controlled by the endocrine system.

The most common congenital disorders of the endocrine system are congenital hypothyroidism (thyroid hormone deficiency) and estrogen deficiency. Another congenital disorder of the endocrine system includes absent adrenal gland, which is a very rare disorder.

If not treated, disorders of the endocrine system can lead to permanent physical and mental impairment. In most cases, disorders of the endocrine system are diagnosed during the first months of a baby’s life. These disorders often manifest themselves in delayed prenatal development, which can be detected during prenatal screening. Sometimes, congenital disorders of the endocrine system can develop later in life, even as late as adulthood.

Symptoms

• Delayed physical and/ or mental development
• Jaundice
• Weak crying (babies)
• Fatigue
• Weakness
• Mood swings
• Low weight

Diagnosis

• During pregnancy, a mother-to-be will have regular screenings at the gynecologist, to check that the fetus is developing normally.
• The doctor will ask the mother- and father-to-be whether they have any diseases that could be passed on to their child.
• The pediatrician will conduct tests and examine the new born baby regularly in the first few months following the birth, especially if the child is at risk of inheriting a congenital disorder.
• Various imaging tests and blood tests may be necessary, to ensure that the child is developing normally.

Treatment

• Conservative treatment can help tremendously. The child may be prescribed with medication and hormones, according to the type they lack.
• The type of hormone and medication depends on the type of disorder the child has been diagnosed with.
• Hormones may need to be taken for a specific amount of time or for a lifetime.

Authors: Dr. Nadezhda Ivanisova, Dr. Farrukh Ahmed