WhatsAppDiagnosis and Treatment of Hormone and Growth Disorders in Children
Pediatric endocrinology is the medical specialty that studies the glands producing the hormones of what is known as the endocrine system, the functions of those hormones, and the mechanisms that regulate hormone release.
Contents
What Is Pediatric Endocrinology?
The endocrine system consists of hormone-secreting glands located in various organs of the body. These glands include structures such as the pituitary, the thyroid, the pancreas, the adrenal glands, the gonads (testes and ovaries) and the parathyroid glands.
Endocrinologists assess whether these glands are working correctly and, if there is any change in hormone levels, diagnose and treat it.
Problems arising from disorders in the production or function of the hormones that are vital for children's growth, development and maturation fall within the field of pediatric endocrinology. Pediatric endocrinologists diagnose and treat the endocrine diseases seen in infants, children and adolescents from the newborn period up to the age of 18.
Which Diseases Are Treated?
The principal conditions managed by the department are the following:
- Growth disorders:
- Short stature: A condition in which a child does not achieve the growth expected for their age. Possible causes include isolated growth hormone deficiency, pituitary insufficiency and hypothyroidism, as well as inadequate nutrition, genetic syndromes (such as Turner syndrome) or familial short stature.
- Tall stature: Children may be taller than their peers because of excess growth hormone (due to tumours or of genetic origin) or for familial reasons. Children with precocious puberty and those with congenital adrenal hyperplasia may also be taller than their peers at the onset of the condition, yet their adult height may remain short.
- Disorders of sexual development: A range of problems arising from irregularity of the hormones during the development of the genital organs or during puberty.
- Adrenal gland disorders: The adrenal glands produce cortisol and other hormones and regulate stress responses. Problems of the adrenal glands such as Addison disease or Cushing syndrome may cause growth, developmental and metabolic problems in children. Deficiencies in the production of adrenal hormones resulting from genetic disorders may also disrupt sexual development.
- Bone metabolism disorders: Irregularities in calcium, phosphorus and vitamin D levels in children may affect bone development and health. Rickets, which results from vitamin D deficiency or resistance and presents with softening at the bone epiphysis and bowing of the bones; bone loss (osteopenia and osteoporosis); excessive bone hardening (osteosclerosis); and brittle bone disease (osteogenesis imperfecta) belong to this group.
Failure of the parathyroid gland to produce hormone (hypoparathyroidism), failure of the parathyroid hormone produced to act (pseudohypoparathyroidism) and excess parathyroid hormone production (hyperparathyroidism) are further conditions that affect bone metabolism.
- Hypoglycaemia: Known as low blood sugar, hypoglycaemia may affect energy levels and metabolism in children. Although more frequent in the newborn period, it can occur at any age.
- Diabetes: A group of diseases in which blood glucose levels remain high because the pancreas cannot produce insulin or because the insulin produced does not function properly, and in which carbohydrate, protein and fat metabolism are consequently affected. Type 1, due to insulin deficiency, type 2, resulting from insulin resistance, and the inherited form known as MODY are the most common types of diabetes.
- Obesity: Exogenous obesity resulting from excess food intake and inactivity is by far the most common form. In only about 1 to 5 percent of patients the cause of obesity is a genetic disorder, Cushing syndrome, hypothyroidism, a parathyroid hormone disorder or one of certain syndromes.
- Hirsutism and menstrual disorders: Genital and/or axillary hair growth before the age of eight in girls and nine in boys may be the first sign of certain genetic diseases or of tumours secreting androgen (the male hormone). In adolescent girls, male-pattern body hair growth and menstrual disorders may result from conditions such as polycystic ovary syndrome, ovarian tumours or congenital adrenal hyperplasia.
- Menstrual disorders: Absence of menstruation, absence of menstruation for at least three months after menstruation has started, and frequent or heavy menstrual bleeding may also have hormonal causes.
- Thyroid diseases: Hormonal disorders arising from an overactive (hyperthyroidism) or underactive (hypothyroidism) thyroid gland. These conditions may cause growth and developmental problems in children.
- Puberty disorders: The appearance of pubertal signs before the age of 8 in girls and 9 in boys is regarded as precocious puberty. Likewise, the absence of any pubertal sign at the age of 13 in girls and 14 in boys is accepted as delayed puberty.
- Diseases linked to chromosomal disorders: In conditions such as Turner syndrome, Klinefelter syndrome, Down syndrome and the trisomies, numerous endocrine disorders are seen more frequently, above all short stature and thyroid disease.
When Should You Consult a Specialist?
The following findings may require a pediatric endocrinology assessment.
- Height markedly below or above that of peers, or a slowdown in height growth
- Pubertal signs appearing before the age of 8 in girls or 9 in boys
- No pubertal sign by the age of 13 in girls or 14 in boys
- Rapid weight gain or unexplained weight loss
- Excessive thirst, frequent urination, fatigue and changes in appetite
- Male-pattern body hair growth, irregular periods or absence of periods in adolescent girls
- Bone health findings such as bowing of the legs, bones that break easily and delayed walking
- Recurrent episodes of low blood sugar
Important: Children are not small adults; they are in a continuous process of growth and development and differ greatly from adults in their physiological and psychological characteristics. Endocrinological and hormonal problems that appear early in childhood may lead to serious consequences later in life if they are not treated appropriately. Endocrine system problems in children aged 0 to 18 should always be followed up and treated by a pediatric endocrinologist.
Diagnostic Methods
In pediatric endocrinology the diagnosis is established by evaluating the history, the physical examination, the growth records and the laboratory findings together.
| Method | What it is used for |
|---|---|
| Height, weight, body mass index and growth velocity are compared with age and sex specific percentile charts. The familial target height is calculated and any deviation from the child's own growth line is identified. | |
| Bone maturation is assessed with a radiograph of the left hand and wrist. It is used to distinguish between short stature, tall stature, precocious puberty and delayed puberty, and to predict adult height. | |
| Thyroid hormones, cortisol, growth hormone and IGF-1, the puberty hormones (LH, FSH, oestradiol, testosterone), parathyroid hormone, calcium, phosphorus and vitamin D levels are measured. | |
| Where a single blood measurement is not conclusive, dynamic tests such as growth hormone stimulation, adrenal stimulation or puberty hormone stimulation tests are performed. | |
| Fasting blood glucose, HbA1c, the oral glucose tolerance test and insulin and C-peptide measurements are used to assess diabetes and insulin resistance. Diabetes autoantibodies contribute to determining the type. | |
| Thyroid and adrenal ultrasonography, pelvic ultrasonography in girls and, where required, magnetic resonance imaging of the pituitary are performed. | |
| Karyotype analysis is requested in chromosomal disorders such as Turner syndrome and Klinefelter syndrome, and targeted genetic tests in selected cases. |
Treatment Approaches
The treatment plan is determined individually according to the type of disease, the age of the child and the stage of growth; family education is an integral part of treatment.
| Treatment | Scope and application |
|---|---|
| Applied in growth hormone deficiency and other defined indications. Throughout treatment, growth velocity, bone age and laboratory findings are assessed at regular intervals. | |
| In hypothyroidism the missing hormone is replaced orally; in hyperthyroidism treatments that reduce hormone production are used. The dose is adjusted according to blood tests and growth findings. | |
| In type 1 diabetes, insulin treatment is carried out together with blood glucose monitoring, carbohydrate counting and family education. In type 2 diabetes lifestyle change comes first, with medication added where necessary. | |
| In precocious puberty, hormone treatment that halts the progression of puberty is applied in order to prevent rapid advance of bone age and loss of adult height. | |
| In adrenal insufficiency and congenital adrenal hyperplasia the missing hormones are replaced. Dose adjustment during stress situations such as febrile illness, vomiting and surgery is explained to the family in detail. | |
| In rickets, hypoparathyroidism and bone mineral disorders the missing mineral and vitamin are supplemented, and bone findings and blood values are monitored. | |
| In obesity, insulin resistance and polycystic ovary syndrome, diet, physical activity and sleep patterns are planned together with a dietitian and reviewed at regular intervals. | |
| In cases such as a hormone-secreting tumour, a thyroid nodule requiring assessment or a disorder of sexual development, decisions are taken jointly with the relevant surgical and support departments. |
Book an appointment with the Academic Hospital Pediatric Endocrinology department.
Book an AppointmentPediatric Endocrinology at Academic Hospital
The Academic Hospital Pediatric Endocrinology department carries out outpatient assessment, hormone testing, growth monitoring and treatment follow-up under one roof. The department works routinely with the following units:
- Pediatrics: initial assessment, general child health follow-up and referral
- Endocrinology and Metabolic Diseases: transfer to adult endocrine follow-up after the age of 18
- Thyroid Diseases and Treatment: joint management of hypothyroidism, hyperthyroidism and thyroid nodules
- Diabetes Treatment: diabetes education and long term follow-up
- Nutrition and Diet: dietary planning in obesity, insulin resistance and diabetes
- Pediatric Urology: joint assessment in disorders of sexual development
- Radiology: bone age radiographs, ultrasonography and pituitary imaging
Frequently Asked Questions
References
The general information given on this page about childhood hormone disorders, growth monitoring and treatment approaches is supported by the reliable health sources listed below.
- European Society for Paediatric Endocrinology, "Clinical Practice Guidelines", eurospe.org
- Pediatric Endocrine Society, "Clinical Resources and Practice Guidelines", pedsendo.org
- World Health Organization, "Child Growth Standards", who.int
- National Institute of Diabetes and Digestive and Kidney Diseases, "Endocrine Diseases", niddk.nih.gov
The information on this page is for informational purposes only; it does not replace medical examination, diagnosis or treatment. Please consult a healthcare institution regarding your complaints.
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