Pediatric Endocrine Disorder

Pediatric endocrinology

Common endocrine disorders encountered in pediatric population include:

Type 1 diabetes:

Type 1 diabetes can occur as early as 6 months of age. It is due to the failure of pancreas to secrete insulin because of immune mediated destruction of pancreatic islet cells. Children with type 1 diabetes present with very high blood sugars and dehydration often requiring hospitalization. Common symptoms of uncontrolled diabetes include increased urination, increased thirst and weight loss. The only treatment available for type 1 diabetes children at this point of time is insulin, administered via pump or multiple daily injections. Diabetic ketoacidosis or DKA is a medical emergency seen in type1 diabetes patients who miss insulin doses and can be avoided by timely administration of insulin.

Neonatal diabetes:

Neonatal diabetes is diabetes detected at birth or before 6 months of age. Most often it is caused by genetic defects leading to defective pancreatic beta cell development or function. Neonatal Diabetes can be a temporary or a permanent condition. Genetic studies in these kids reveal the underlying mutation thereby aiding the treating endocrinologist in choosing therapy and prognostication of the condition. While few types respond to oral medication, others might require insulin depending on the causative mutation.

Neonatal hypoglycemia:

Contrast to neonatal diabetes, neonatal hypoglycemic disorders are characterized by very low blood glucose levels which, if not addressed, can lead to seizures and sometimes coma. Neonatal hypoglycemia disorders are caused by mutations in genes involved in glucose, fat and protein metabolism in a human body. Deficiency of hormones like growth hormone OR cortisol at birth or excessive levels of insulin (hyperinsulinemia) can also result in neonatal hypoglycemia. Hypoglycemia due to hormonal disorders require a thorough endocrine evaluation. In growth hormone and cortisol deficient states, treatment is administration of hormones which are deficient. In hyperinsulinemia states, treatment varies widely from oral medication to injectable therapy to surgery (involving pancreas) depending on the index case. Genetic studies play an important role in hyperinsulinemia disorders not just for prognostication but also for choosing therapy.

Congenital hypothyroidism:

Congenital hypothyroidism is a preventable cause of mental retardation. It is caused either by a defect in the development of thyroid gland or by defective synthesis of thyroxine hormone by thyroid gland. Incidence of congenital hypothyroidism is 1 in 3000 to 4000 live births. Because human brain in foetal stage and during the first 3 years of life is essentially dependent on thyroxine hormone for normal development, it is very crucial to diagnose all cases of congenital hypothyroidism and start therapy at the earliest. This is facilitated by universal screening of all newborns on day 3 or day 4 of life by estimating TSH, Total T3 and Total T4 levels. Treatment includes supplementation of levothyroxine hormone.

Rickets /Osteomalacia:

Rickets is an endocrine disorder involving bones. It manifests as short stature, deformities of limbs, muscle weakness and difficulty in walking, fragile bones and bone fractures. It is due to deficiency of either calcium or vitamin D or phosphate. The underlying cause of these mineral or vitamin D deficiencies could be dietary, poor exposure to sunlight, genetic disorders, drugs like anti epilepsy medication, chronic diarrhea, liver and renal diseases. All the children with rickets/osteomalacia need a thorough evaluation by an endocrinologist. Prompt treatment with calcium/phosphate/vitamin D will improve symptoms and help in correction of deformities

Adrenal disorders:

Adrenal glands are endocrine glands situated on the top of both the kidneys . They synthesize and secrete essential lifesaving hormones called cortisol and fludrocortisone. Certain adrenal disorders may be associated with either low or excessive secretion of these hormones and need evaluation. Adrenal disorders causing inadequate or low cortisol synthesis are commonly seen in pediatric age group and need careful evaluation and treatment. Cortisol with or without fludrocortisone deficiency usually manifests as hypotension (low blood pressure), hyponatremia (low sodium levels), hypoglycemia (low blood glucose levels) and hyperkalemia (high potassium levels) along with failure to gain weight, increase in skin pigmentation and craving for salt. Causes for adrenal hormone deficiency are multiple and prompt therapy with the hormones which are lacking can be lifesaving.

Rarely, adrenal disorders causing excessive levels of cortisol (Cushings syndrome) are seen in the pediatric population. They present with short stature, excessive weight gain and delay in development of secondary sexual characteristics or rarely early development of secondary sexual characters. Often these are due to cortisol secreting tumors of the adrenal glands and treatment involves surgery.

Undescended Testis and micropenis:

Undescended testis at birth especially if present on both the sides needs endocrine evaluation to determine the underlying cause. Low or absent testosterone production in a fetal stage may cause undescended testis and a small sized penis (micropenis). Surgical intervention to bring down the testis before 6 to 12 months of age is required. These children may need testosterone therapy for induction of secondary sexual characteristics later in life depending on the cause.


Gynecomastia or enlargement of breast tissue in males is a common problem. It can affect any age group and the etiology differs according to the age of the subject. It can be a normal phenomenon in newborns, elderly and around the age of puberty, the latter also known as pubertal gynecomastia. Such patients need to be reassured. Gynecomastia occurring in the remaining age groups needs thorough evaluation. Gynecomastia due to endocrine causes is usually a bilateral condition i.e. it affects both the breasts. A unilateral, painful, rapidly increasing gynecomastia warrants careful evaluation to rule out breast carcinoma in males. Hypogonadism (low testosterone state ) or conditions causing a high estrogen state in males causes gynecomastia which needs to be investigated by a systematic approach. It is very important to note that certain medications can also cause gynecomastia. Treatment of gynecomastia involves addressing the underlying condition. Pubertal gynecomastia, commonest cause of gynecomastia, can be severe at times causing severe mental distress to the subject and needs treatment.