Growth disorders

"A multidisciplinary team offers numerous advantages. The patient can be treated by different specialists. This way we achieve a better diagnosis and a more effective treatment".

DR. CRISTINA AZCONA SAN JULIÁN
SPECIALIST. PEDIATRICS DEPARTMENT

Growth hormone deficiency is a condition of congenital or acquired nature that is characterized by the total or partial absence of growth hormone in plasma. It occurs when there is a failure in the pituitary gland, in the hypothalamus or in the pathway linking the hypothalamus to the pituitary.

The Clínica Universidad de Navarra's Pediatric Endocrinology Unit evaluates and diagnoses children and adolescents with hormonal problems that may affect their growth and development.

After the diagnostic tests, we indicate an individualized treatment plan with administration of medication in those patients who require it. The aim is to correct the hormonal deficits responsible for the physical and psychological alterations of the patient.

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What are the symptoms of growth disorder?

Size below the child's age-specific percentile warns of a possible growth disorder.

Children with congenital GH deficiency have normal weight and height at birth. Prolonged neonatal jaundice is common (50% of cases). Hypoglycemia can occur in the first 4 years of life. Height is usually affected from the first 3-6 months of life, so that at two years it may be in the 3rd percentile or below.

The speed of growth is slow, below the 25th percentile. Bone maturation is delayed by 1-4 years in relation to chronological age. Without treatment, pubertal pull is usually delayed until 18-20 years of age.

Intelligence is normal, but it is common to find signs of immaturity and difficulty in adapting to the social environment, secondary to parental protectionism and low self-esteem due to low height.

The most common symptoms are:

  • Low size.
  • Hypoglycemia.
  • Immaturity.
  • Low self-esteem.

In the acquired forms, at the beginning they show a normal growth, slowing down or stopping its curve of growth later. They have harmonic measures, cephalic perimeter adapted to the age, delay in the closing of the fontanelles and hair of slow growth. The facies is described as a doll face or cherub face. It is small with a bulging forehead, flat nasal root and altered dentition. They can have high voice with peculiar tone, light overweight, little muscular extremities of graceful aspect, and small hands and feet.

In some children, growth retardation is the only symptom, so it is appropriate to explore GH secretion in any patient with growth retardation of unknown etiology.

Does your child have any of these symptoms?

You may have a growth disorder

What are the causes?

The most frequent causes of GH deficiency are idiopathic.

Abnormalities of synthesis, secretion and activity of growth hormone (GH) are usually sporadic and heterogeneous, including genetic syndromes with or without molecular basis (3% of children have a sibling with the same deficit, (more frequent in males), malformative causes, alterations in embryonic development, trauma, hypoxic processes, infections, tumors of the hypothalamus-pituitary region or brain and their treatments with surgery or radiotherapy, and peripheral insensitivity to GH.

GH deficit can be associated with other hormonal deficits of pituitary origin, especially that of sex hormones, whose diagnosis and treatment is most often not made until puberty, when it is detected.

There may also be a deficit of the stimulating hormones of the thyroid gland of the adrenal cortex, although less frequently.

What is a low size?

When we talk about short size we mean children whose height is below the 3rd percentile (-2 SD) of the population size standards for their age and sex.

In 80% of children who are below the 3rd percentile, no cause can be found. The remaining 20% do have a pathological origin.

Within the group of children who are short without a justified cause, different patterns of low height can be distinguished. There is a group of children with a size below the 3rd percentile (-2 SD) who were born with a normal length, and their body proportions are also normal. In them, no chronic disease is found that justifies their height and their growth rate is slow but uniform. Within this group we can find children with growth below the family range and delayed puberty initiation (constitutional delay of growth and development) and children whose growth is within the family range and the beginning of their puberty development is normal (family low height).

Children with constitutional delay in growth and development show normal growth in the first few years of life. Later on, they suffer a delay that is below normal. They have a delayed bone age. Puberty is delayed after age 14 in girls and age 16 in boys

How are growth problems diagnosed in children?

Clinical, radiological, endocrinological and genetic studies are the basis of the diagnosis of growth disorders.

The diagnosis of growth disorder is based on clinical, endocrinological studies of GH (growth hormone) secretion, radiological studies that contribute to the topographic and morphological diagnosis and genetic studies, using molecular biology techniques. The normal levels of GH are fluctuating. This hormone is released in peaks. There are 6-9 peaks in a day, lasting 10 to 20 minutes. Especially the release occurs during sleep.

To measure GH levels we can make frequent determinations throughout the day or cause a peak release.

There are several provocation tests with pharmacological stimulus: insulin hypoglycemia test, glucagon test (alters blood glucose levels), clonidine or arginine test.

These tests may indicate growth hormone deficiency when GH values are below 10 ng/ml. It is considered partial deficit if the response is between 5-10 ng/ml and total if it is lower than 5 ng/ml. The response to the tests varies according to age or pubertal period.

The determination of growth factors (IGF-I), and their transport protein, IGFBP-3, can help the diagnosis.

How are growth disorders treated?

The goal of treatment is to increase growth rate and adult size.

The availability of large amounts of growth hormone (GH) due to its obtention by recombinant DNA engineering, allows a better understanding of its metabolic effects and demonstrates that it not only stimulates growth in children with GH deficit, but also in those with low height and apparently normal GH.

Treatment should be initiated early, establishing the diagnosis of certainty. The doses used range from 0.025-0.050 mg/kg/day. They are individually adjusted according to response and levels of IGF-I and IGFBP-3. It is administered subcutaneously before bedtime.

At the end of the growth, a diagnostic reevaluation is made and if the GH deficit persists, the treatment will continue in adult life at lower doses. Side effects are very rare. There are some cases of alteration of the femoral head (epiphysiolysis), carpal tunnel syndrome, secondary hypothyroidism, lipodystrophy at the injection site, development of anti-GH antibodies, hypertension, carbohydrate intolerance.

During treatment, monitoring tests are performed to detect any side effects and treat them.

Where do we treat it?

IN NAVARRA AND MADRID

OUR MEDICAL TEAM

Specialists from the Department of Pediatrics

All our specialists work exclusively and, in addition, since we have all the technology in the same center, we offer the performance of tests and diagnosis in less than 72 hours.

We have a team of highly qualified professionals to attend the different specialized units: Oncopediatrics, Neuropediatrics, Endocrinopediatrics, Neonatology, etc.

Organized in specialized units

  • Neonatology Area.
  • Pediatric Endocrinology.
  • Pediatric Cardiology.
  • Pediatric Neuropediatrics.
  • Digestive and pediatric nutrition.
  • General and preventive pediatrics.
  • Pediatric Pneumology.
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