Pediatric endocrine disorders

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Growth Disorders– Short stature is one of the common clinical problems observed in Pediatric endocrine practice. Normally height increases steadily with age and reaches its peak during puberty. Further the bones gradually stop growing and usually beyond the age of 18 years no height gain occurs. Constitutional delay (“late bloom”) in growth is the most common cause and is not considered a disorder, however poor height gain in a child can also be due to hormonal imbalances, nutritional inadequacies and recurrent systemic diseases. One fifth of the children with severe short stature harbour growth hormone deficiency. Regular height monitoring enables early identification of any deviation from normal growth. Timely detection of the underlying etiology and treatment before complete bone maturation are important for a better outcome.

Childhood Diabetes – Diabetes mellitus in children is a chronic illness with lifelong morbidity. More than 80% of childhood diabetes is constituted by Type 1 diabetes, a disease caused by destruction of insulin producing cells in the pancreas. Although Type 2 Diabetes was previously considered a disease of adult population, current epidemic of childhood obesity has resulted in an increased occurrence of early onset  type 2 diabetes. Diabetes in the newborn and infant is almost always due to a genetic cause. Like in adults, inadequately treated diabetes can result in damage to vital organs as heart, kidneys, eyes and nerves. Unlike in adults, insulin is the first line treatment in most forms of childhood diabetes. Children with type 1 diabetes require lifelong insulin replacement. However in earlier stages of type 2 diabetes and in certain genetic forms of diabetes tablets do help in controlling blood sugars. Newer forms of insulin and insulin delivery devices like pumps offer better glycemic control and patient satisfaction.

Thyroid dysfunction – Inadequate thyroid hormone production in newborn infants can lead to mental retardation.Neonatal thyroid screening enables early identification of such patients and helps early institution of therapy which is crucial for long term neurodevelopment outcome. Unlike in adults, delayed diagnosis of childhood hypothyroidism (lack of thyroid hormone production) leads to irreversible sequel like short stature and learning disabilities. Untreated hypothyroidism can result in weight gain and menstrual irregularities in adolescent girls. Inappropriate increase in thyroid hormone production viz. hyperthyroidism; is not uncommon in pediatric age group. Usual symptoms are weight loss, restlessness, excessive sweating, reduced sleep, protrusion of eye balls etc.

Pubertal disorders – Normal puberty starts by 9 years in girls (breast enlargement) and 10 years in boys (testicular enlargement). Normally girls start menstruating between 10 -15 years of age.  Early sexual maturation can cause premature maturation of the growing bone and reduction in the final height of the child. Appropriate hormonal therapy can postpone this abnormal maturation process.  Alternatively, absence of breast development by 13 years or absence of menstruation by 15 years in a girl should raise concern and needs evaluation. Boys who have no signs of pubertal development by 14 years of age should be investigated for hormonal deficiency. Delay in initiation of puberty and lack of sex steroids in the body affect bone health, predisposing to the development of early osteoporosis.

Adolescent menstrual problems – Menstrual cycles can be irregular in the first few months after the first cycle. However conditions like polycystic ovaries (PCOD), hypothyroidism etc can also result in persistent menstrual disturbances. Lifestyle modification measures together with hormonal therapy rectify most of these symptoms.

Adrenal gland disorders – Adrenal glands produce steroid hormones which are vital for our normal body functions. Most frequently met adrenal problem in childhood include congenital adrenal hyperplasia (CAH) which results from biochemical defect in steroid production. The classical variety of CAH presents as life threatening salt losing abnormality (leading to dehydration and death) in the newborn period and genital ambiguity (masculinisation) in female babies. Early institution of glucocorticoids is crucial in such situations. In grown up children adrenal insufficiency usually results from Addison’s disease  a disease causing destruction of the adrenal gland. Darkening of the skin and excessive fatigue may be the initial symptoms. Lifelong steroid replacement is the treatment.

Disorders of sexual differentiation – Disorders involving the formation and functioning of reproductive organs (ovaries and testes) result in inappropriate sexual differentiation. This can cause masculinisation in girls and undervirilization in boys leading to confusion in the sex of rearing at birth. Incorrect assignment of sex can complicate gender orientation during adolescence and adulthood.

Metabolic bone diseases – This group of diseases include vitamin D deficiency rickets, Vitamin D dependent rickets, hypophosphatemic (abnormally low level of phosphorus in blood) rickets and renal tubular acidosis (accumulation of acids in the body). Hypoparathyroidism (decreased function of parathyroid gland) is a condition which can cause life threatening hypocalcemia (low blood calcium levels) in the newborn, child and adolescent. Early diagnosis and appropriate treatment improves physical growth as well as prevents occurrence of grave sequel.

Hereditary diseases of the bone like osteogenesis imperfecta and juvenile osteoporosis presents with recurrent fractures and deformities. Evidence is emerging that treatment with bisphosphonate group of drugs   offer better long term prognosis in children with osteogenesis imperfecta in terms of augmenting bone strength and reduction in fracture rates. Physical and orthopaedic rehabilitation improves mobility and reduces morbidity in these patients.

Childhood obesity– Childhood obesity is a global epidemic at present. It is a major public health problem and leads to a number of systemic diseases at a very young age. Changing lifestyles and reduced physical activity have resulted in this preventable disease. Though constitutional obesity is the most common cause, other uncommon causes need to be ruled out in a child presenting with excessive weight gain. Endocrinopathies like growth hormone deficiency, Cushing syndrome, hypothyroidism and pseudohypoparathyroidism can lead to abnormal weight gain. Genetic syndromes, single gene mutations, certain drugs etc also result in childhood obesity. Although drugs have little role in management of childhood obesity, imparting healthy eating habits and regular physical activity  through counselling and regular follow up  bring desirable results.

Endocrine emergencies – Situations requiring urgent endocrine attention include diabetic ketoacidosis (excessive ketones in body), hypoglycaemia (diminished glucose in blood), adrenal crisis, hypocalcemia, hyponatremia (lower concentration of sodium) and hyperkalemia (higher potassium content). A high level of alertness is required for these diagnoses and prompt therapy can avert life threatening crisis.

Endocrine problems in childhood cancer survivors and thalassemia patients – Endocrine glands are often adversely affected by various cancer treatment modalities like surgery, chemotherapy and radiotherapy resulting in growth and pubertal disturbances, hypothyroidism, hypopituitarism, hypogonadism, diabetes insipidus, obesity and related metabolic derangements. They usually manifest months to years after the cure of the primary disease. Periodic monitoring and surveillance is mandatory for early identification and rectification of these unavoidable sequels.

Multiple blood transfusions in thalassemia (a haematological disorder causing severe anemia) patients lead to iron deposition in various organs. These patients present a high risk group for development of a number of endocrine problems like growth disturbances, hypopituitarism, hypothyroidism, hypoparathyroidism, pancreatic diabetes mellitus, adrenal insufficiency and osteoporosis. Periodic screening detects these complications and helps institution of early and appropriate treatment.