Endocrine disordersIt has been known for long that hormones control the growth, development and reproduction besides playing a critical role in maintenance of internal environment, production, utilisation and storage of energy. The spectrum of endocrine diseases in children is different from adults. A majority of childhood endocrinopathies are due to underlying structural, functional or developmental abnormalities. There is also a greater influence of genetic and immunological factors. .Endocrine disorders in childrenEndocrine disorders result from overproduction or underproduction or resistance to hormonal action. These may occur at different times in course of same disease as seen in Type 2 Diabetes and obesity.Some examples of the classic paediatric endocrine disorders include:• Congenital hypothyroidism• Growth hormone deficiency related short stature• Vitamin D deficiency related rickets• Congenital adrenal hyperplasia• Type 1 Diabetes• Pubertal disordersCongenital hypothyroidism (CH)It is characterised by prolonged physiological jaundice, weight gain, goitre, dry skin, poor muscle tone, low or hoarsecry, delay in milestones and subnormal intelligence. Congenital hypothyroidism can be also part of multiple pituitary hormone deficiency. This may present as hypoglycaemia (low blood sugar levels). In some instances of congenital absence of thyroid, lifelong supplementation of oral thyroxin is essential. Therefore, it is mandatory to check TSH (thyroid stimulating hormone) levels every3 months. Trial off-therapy at the age of 3 may be attempted as brain growth is completed. Follow-up with growth charts is useful for picking up delayed growth.Preventive strategies• Neonatal screening of hypothyroidism by TSH done on cord blood or at 3rd day of birth has certainly improved thediagnostic yield of congenital hypothyroidism.• Iodine deficiency disorders presented in endemic regions with goitre and low IQ (cretinism) have been effectively tackled by provision of iodized salt• Maternal nutrition and correction of hypothyroidism and diabetes ensures the health of the foetus.• Targeted history taking is mandatory since genetic and hereditary causes could be identified early.Growth hormone deficiencyClassically, growth hormone deficient child has cherubic or angel like face, paleness of face and hands, small size of penis, increased liposity of the trunk and short stature. Late recognition of growth hormone deficiency can result in permanent short stature. Familial short stature is a common cause and requires counselling. Mid-parental height measured from height of both parents identifies the genetic potential. Plotting annually or 6 monthly growth charts can be helpful. This tool is increasingly adopted in school health to ensure the road to health in community level to arrive at early diagnosis. Growth hormone therapy available as injections is the treatment. Recombinant growth hormone has been available overthe last 4 decades and if given in the appropriate child can yield good results in achieving the target height. The dose varies as per the indication and body weight and is expensive. Latest pen devices provide a relatively pain-free experience. It is a good dictum to remember that growth hormone cannot yield results once the bone ends have fused or child attained puberty.RicketsVitamin D deficiency rickets typically manifests in infants and toddlers, but can also happen in older children. Symptoms of vitamin D deficiency rickets include restlessness, lack of sleep, slow growth, a delay in crawling, sitting or walking, soft skull bones (craniotabes), swelling of the skull (frontal bossing), bead-like nodules where the ribs and their cartilages join (rachitic rosary), and a delay in the closing of the skull bones. Aches, pains and enlarged bones are possible, along with swelling at the joints such as wrists and ankles.Untreated vitamin D deficiency rickets results in the ends of the long bones becoming enlarged and the legs becoming bowed or knock-kneed. Muscles can become weak and the chest may become deformed due to the pull of the diaphragm on the ribs that have been weakened by rickets (Harrison's groove). Abnormal development and decay of teeth may also occur. Vitamin D (cholecalciferol) is available in oral form and injections.To prevent onset of rickets:• Vitamin D sufficiency can be ensured by adequate nutrition and effective outdoor activities.• Measurement of vitamin D levels in symptomatic children and prompt correction definitely yields good results in muscle, bone health and immunity.• Fortification of salt with Vitamin D is thought to be an emerging public health strategy as this avoids dependence on sunlight or natural resources. Overzealous Vitamin D replacement may result in toxicity.Congenital adrenal hyperplasia HYPOTHALAMUSReleasing honnones for anterior pituitaryTHYROID GLANDThyroxine and T3CalcitoninTHYMUS GLAND IImmune hormones PANCREAS lnsulin GlucagonOVARIESEstrogenProgesterone lnhibinPITUITARY (HYPOPHYSIS) GLANDAnterior:GH, TSH, ACTHFSH, LH, Prolactin Posterior:ADH.OxytocinPINEAL GLANDMelatoninPARATHYROID GLANDS PTHADRENA L (SUPRARENAL) GLANDSCortex: Aldosterone CortisolSex hormones Medulla: EpinephrineNorepinephrineThis is a rare inherited condition caused by mutations in genes that code for enzymes involved in making steroid hormones in the adrenal glands. As both boys and girls with congenital adrenal hyperplasia have a deficiency of cortisol, they are likely to present in the first few weeks of life with an adrenal crisis (vomiting, poor feeding, salt losing, dehydration resulting in low blood pressure). This is often catastrophic unless recognized and treated with steroid replacement. Some babies present with abnormal genitalia - difficult to distinguish as male or female or virilisation (masculinisation of female).Hydrocortisone, fludrocortisone can be used to treat congenital adrenal hyperplasia. Genetic studies may be required in some situations.Type 1 DiabetesThe symptoms can appear relatively suddenly and may include increased thirst, frequent urination, and bed-wetting in children who previously didn't wet the bed during the night, extreme hunger, unintended weight loss, irritability, blurred vision, fatigue and weakness. These are termed as hyperosmolar symptoms and if missed progress to ketosis due to absolute insulin deficiency. These readily get corrected by institution of insulin therapy and fluid maintenance.Among children with Type 1 Diabetes, recurrent episodes of diabetic ketoacidosis are described when infection or improper adjustment of insulin therapy. Sometimes caregiver or child may forget to carry insulin while travelling or forget to rotate the sites of injection. Instances of improper storage and pump failure have also occurred. Long term implication of uncontrolled Diabetes can result in delayed growth and early onset of micro and macrovascular complications.Latest glucose monitoring techniques include smart glucose meters using mobile based algorithms and continuous glucose monitoring with sensors for capturing the accurate glucose patterns.Insulin delivery devices have undergone transformation from the vials/syringes to designer insulin and pumps. This has helped in reducing time to delivering the dose and convenience in daily activities by low risk of hypoglycaemia. Since Type 1 Diabetes is of autoimmune aetiology, research on oral insulin and other immunological agents and stem cell trials are progressing and results are expected soon. Insulin is the mainstay of treatment in Type 1 Diabetes.Tailored doses based on the weight, body surface area and the clinical scenario are important to ensure optimum growth and metabolism. The duration of treatment depends on the progression of disease, type of diagnosis and hormone levels. Oral hypoglycaemic agents like metformin can be used in childhood onset of Type 2 Diabetes (age more than 10 years).Neonatal Diabetes can be treated with oral hypoglycaemic drugs (glibenclamide) after genetic diagnosis. These are the benefits of modern diagnostic testing.Pubertal disordersThese include delayed and precocious puberty. Polycystic ovarian syndrome (PCOS) may present in adolescence as irregular menses, acne, weight gain and male pattern hair growth. Overproduction of adrenal androgens (as in undetected congenital adrenal hyperplasia) can create an early or precocious puberty with pubic hair growth, body odour, and enlargement of the penis or clitoris at a younger age than would normally be expected. This can cause early fusion of the bones.Thus, both boys and girls with poorly controlled congenital adrenal hyperplasia will have rapid growth in early childhood and will be a tall child but a short adult.Recognising the onset of sexual maturity signs is important since constitutional delay is a common occurrence amongst families and this only merits counselling and follow-up.Role of diet and exerciseAcanthosis nigricans or dark velvety pigmentation over the neck, axilla or groin is a common observed consequence of metabolic syndrome. Lifestyle interventions have been highlighted to improve insulin sensitivity in Type 2 Diabetes, polycystic ovarian disease and fatty liver with childhood obesity. Nutrition impacts the bone health also.Children with Type 1 Diabetes need counselling with peer group support to educate regarding carbohydrate counting and preventing hypoglycaemia.Adopting family-based diet plan with exercise achieves improved metabolic benefits.To concludeEarly identification and appropriate treatment promptly correct the disorders and has definite impact on quality of life. Ensuring child reaches the target height and progresses to puberty are basic aim. Recognising early clues and symptoms of endocrine disorders is quintessential.Timely referral to a specialist endocrinologist or hormone health expert is paramount. Maintaining health records is crucial. This ensures smooth transition to puberty and adulthood. To keep hormones in harmony is the final goal.
