Problems with an increase in the child: tips for parents. Excessive growth is a very high increase in the disease

Greetings, dear reader. If you are familiar with this blog, then your height, like me, is slightly above average)) or you just wonder the topic of high growth. And, for sure, many of you maybe more than once, asked themselves question« Why am I so high?»

It was on this question that I asked to answer a professional doctor, a specialist of genetics and gynecology, the author of many scientific articles and publications, my name-named, Olga Kuznetsov 🙂

So specifically for our readers reply to the article « Causes of high height»:

It turned out that brunettes want to be blondes, "pyshki" seek to lose weight, high people would like to be lower, and low dream of growing. It seems that the cause of all vital troubles is some kind of an element of appearance and changing it - everything would be different . A personal life would have improved the earliest life, there were worthy of paid job, the complexes disappeared ...

So people are arranged. We are looking for the causes of our troubles, sometimes absolutely not where there would be . It is necessary to clearly understand that every person is a multifaceted personality, and everyone has something special, worthy of attention and respect. Primarily, you need to learn to respect your identity yourself, and then many imaginary external disadvantages, on which we often focus on the attention of others will stop being shortcomings and become features that emphasize our individuality.

We inherit from our parents and progenitors a certain set of chromosomes, which defines our phenotype. This is an appearance, and predisposition to certain diseases. Growth is part of the phenotype as well as the color of the eyes, the shape of the nose, lips, the size of the foot and everything else.As the chromosomes are connected at the time of fertilization, no one knows, as well as influence this to us, simply mortal is impossible. This is a unique process, as a result of which a new life appears.

There are absolutely identical people, even twins that have grown in different conditions are not like two drops of water on each other, because in addition to genetics, there are other conditions affecting the formation of a phenotype . This is nutrition, environmental factors, diseases, bad habits and so on.

Since we are talking about growth, we can see that high parents are likely to have high children and, on the contrary, at low parents, children will be low growth. The growth of the child, besides genetic determination (the so-called genetic potential), as already mentioned, the factors of the external and internal environment have.

When is the high growth is physiology, and when pathology?

High growth is physiological, if it is genetically determined (at least one of the parents has a high height), while the physique is proportionally, and all organs and systems are functioning normally.

It is possible to assume what growth will be in a child already from early childhood, when pediatricians measure the infancy of the chest circumference, head, body length, weight. These indicators are checked with central tables, which are normal data indicators for each age. Indicators vary significantly: from 3 to 97 centles.Everything that is higher or lower is considered a deviation from normal values \u200b\u200band requires close attention to doctors and parents.

The high growth of the child rarely is a problem from a medical point of view, but it is necessary to understand that too high growth can be a symptom of some disease.

The main reasons for high growth

- Ethnicity
- Increased products of metabolic hormones or growth hormone in the body
- Kleinfelter syndrome (three sex chromosomes instead of two)
- Premature puberty
- Acromegaly
- pituitary tumor (improved growth hormone products, which leads to giantism)
- Obesity
—

An important point is the systematic measurement of growth, when it can be seen, whether the increase in growth is even uniform, the growth intensity indicator was within the norm.

If the cause of the growth breach They are genetically determined reasons, it is impossible to carry them out of their prevention. However, if that it is only a symptom of some pathological condition, it can be affected by the development of events, if these most pathological conditions are revealed at an early stage, subject to effective treatment. For example, such a state as a pituitary tumor at which an increased amount of growth hormone can be produced. It was high in this case will be the symptom of the pituitary tumor and the treatment requires not tallness itself, but a tumor, that is, it is necessary to eliminate the cause.

Parents should be alerted if their child is not growing or vice versa, grows too quickly. It is necessary to seek medical care for diagnosis and possibly necessary treatment as early as possible.Only in this case, it is possible to identify hidden pathological conditions, the symptoms of which can be a height violation.

The doctor relies on the data of the anamnesis (growth scheme, heredity, the beginning of the appearance of symptoms) and the results of research (anthropometric data, measurement of the age of bones, hormonal background). All this gives the basis to put the correct diagnosis and assign adequate therapy.

If the teenager in adolescence to the high growth rates is obvious, a thorough diagnosis has been carried out, but the reason for this phenomenon has not been identified, sex hormones can be assigned , namely testosterone and estrogens. With their help simulate the natural process of closing cartilaginous growth zones in the bones and growth slows down And stops.

The decision on the appointment of hormone therapy is made by the Consilium of Doctors with the participation of the parents of the child. Estrogen treatment girls are prescribed before the start of menstruation, estrogens with progesterone are used, while the artificial menstrual cycle is created, the treatment is usually going on until 14-15 years, under strict medical control.

Summarizing all the above, it can be concluded that if the accelerated growth rates are not a symptom of a pathological condition, it is not necessary to interfere in the physiology of your body or the body of your child. After all, the term "high" is always associated with the terms "beautiful" and "Static".

Tallness may arise as a result of various reasons - genetic and non-mental.

Genetic causes of tallness

Chaninfeltelle syndrome Most often due to karyotype XXY, but karyotype XXYY and mosaic forms can be met. (With a karyotype XXXY, it is more likely to expect slow growth). There is a tendency to a light delay of intellectual development, often burdened by behavioral deviations, and hypergronadotropic hypogonadism. At older, there is a high likelihood of diabetes mellitus. It is usually observed, however, cases of successful intracitoplasmic sperm injection are described.

In boys with karyotype XYY, there is a moderate delay in intellectual development and specific problems with motor coordination. In the past, there was an opinion that such patients often have antisocial behavior, but it is currently questionable. Cryptorchism may be observed, but this symptom is not so frequent as under the clanfelter syndrome.

Both states occur relatively often, about twice as often as Turner's population studies at birth), however, minor learning difficulties and the normal perception of tallness by society lead to the identification of diseases in senior children's or early adult age.

External phenotypic manifestations in women with karyotype XXX are few: there is a tendency to the shortage of weight and tallness, the part of the patients has a later puberty, amenorrhea and infertility. The average IQ (Intelligence QUotient - the intelligence coefficient) is 85 points.

Dimorphic syndromes caused by metabolic or connective violations

Marfan syndrome is a relatively frequent dominant inherited disease, in which one of the copies of the fibrilline gene on chromosome 17q. For patients, disproportionate tallness with relatively long legs, the arachnodactyline, the hypermobility of the joints, hernia, scoliosis and thoracic deformations, myopia, dislocation or lens of the lens and the Gothic palate are characteristic. The manifestation of the internal organs may be the weakness of collagen structures,

especially in the left sections of the heart, manifested by the insufficiency of mitral and aortic valves, dilatation and the bundle of the aorta. There may also be spontaneous. The MRI detects the protrusion of a solid cerebral shell in the lumbosacraliary.

Contractural Arachnodactilia Bilsa - a rare dominant inherited disease, having some similar features with marfane syndrome and caused by a defect of another copy of the fibrill gene on the chromosome 15q. At this state, contractures in the field of knees, elbows and brushes, micrognathy, an abnormal form of ear leaders ("stovered ears") and kifoscolyosis are noted.

Homocystinuria is a disease from the aminoacidurium group, in which the marfan-like type of tallness is observed. This disease is detected more often than marfan syndrome due to complications from the eye, such as expopy of lens and severe myopia. Intellect is usually reduced, and there are complications due to thromboembolism.

For generalized lipodystrophy, a pronounced underdevelopment of subcutaneous fiber and relatively high growth is characterized.

Dimorphic syndromes with a symmetric type of tallness

Most of these syndromes (are listed below) are combined with intellectual development delay.

Saw syndrome.

Valera syndrome.

Marshall Smith Syndrome.

Bekvita-Vidmana syndrome, for whom macros and more
expressed on some one side), other donorphic signs and hypoglycemia. The consequence of hypoglycemia may be intellectual failure. There are data in favor of increased expression in the intrauterine period of the growth factor of the IFR-2, with which the tendency to the development of Wilms tumor can be associated.

Syndrome Simpson-Golaby Bemel - "Bulldog Syndrome" has partially the same manifestations. The disease is at the heart of the disease, the antimunctivating mutations of the Glipican 3 gene, the membrane binding proteinglikan, which is normal in the norm for the sequestration of the IFR-2 and restricting the availability of the latter for its receptor.

Tallness may also be observed in the syndrome of the climbing chromosome, Bannain-Riley-Ruvalkalb, Elealda and Nevo syndromes.

Dimorphic syndromes with partial or asymmetric increase in body parts

The increase in body parts by type of hemigipephy may be observed during Becvita-Vidmen syndrome. For clippel-trenon-weber syndrome, a combination of increased parts of the body with skin vascular neules is characterized. The basis of the chimeric anomaly of the tissues, leading to progressive growth, lipoms and deformations.

Secondary causes of tallness

Hyperinsulinism

Due to the fact that insulin acts as a growth factor, intrauterine hyperinsulinemia, developing in response to mother diabetes mellitus, or persistent hyperinsulinemic hypoglycemia of newborns (PGGN), previously called disruption of the endocrine regulation of the pancreas, or non-zepturestosis, lead to the development of macrosia. The increase in dimensions is usually transient, and as soon as the source of the pathological secretion of insulin is eliminated, a growth slowdown is noted.

Hyperinsulinism may occur again due to obesity. Excessive calorie intake contributes to the growth of the child and can provoke hyperinsulinism, causing relative tallness, for which growth is characterized on the upper boundary of the normal target range, excess of the mass of the mass over the percentle of growth, relatively early sexual ripening, strry and bright blush, reminding the light syndrome of Cushing (however, everything It is against the background of accelerated growth, which distinguishes this state from an excess of steroid hormones, which always takes a slowdown in growth). Often there is an external similarity with one or both parents and sibling. In severe hyperinsulism, acanthosis can also be observed, and with HAIR-AN syndrome; Facial manifestations are described as "acromegaloid". Tumors and hypothalamus dysfunction can cause overeating, obesity and increasing growth as a secondary phenomenon.

Thyrotoxicosis

Notightened and, as a result, unrecognized and untreated thyrotoxicosis leads to an acceleration of growth and relative tallness on average aged age. At the same time, however, there is ahead of bone age, so the final growth is usually located within the genetic range.

Premature puberty

For this disease, high growth in childhood is characterized, but not in adulthood. In the absence of treatment, the advance of the ripening of the bones leads to early closure of epiphyseal growth areas, which is usually manifested by low growth in adulthood.

Other states associated with disproportionate physique and relative tallness

Multiple endocrine adenomatosis (MEA or Maine) of type IIB is a family disease in which medullar and combined with moderately pronounced tallness and marfan-like features, as well as neurons of mucous membranes, intestines and conjunctiva.

Hypogonadism can cause a moderate increase in final growth with the relative exceeding the length of the legs (the so-called eunuchoidal physique), which is caused by the late closure of the epiphesis and the long growth of the limbs in childhood, combined with the insufficient effect of sex gums on the growth of the spine.

Similarly, in a more pronounced degree, the aromatase deficit prevents the transformation of testosterone into estrogens in men (as well as the defects of estrogen receptor), therefore, the lack of stimulation of the closure of epiphyseal growth zones. With these rare diseases, patients continue to grow in adulthood; They have osteoporosis and infertility, combined with a significant increase in the concentration of the follicularity immuling hormone (FSH).

Family resistance to glucocorticoids can be combined with tallness.

Algorithm for diagnostics of tallness

Anamnesis and objective examination

When collecting anamnesis, the child with signs of tallness should find out the following basic provisions.

Body sizes at birth, mother health during pregnancy, pregnancy course, view of the delivery. Have any virilization of mother during pregnancy? (\u003d Child aromatase deficiency).

The size of the body and the time of the fellow ripening of parents.

Early heart disease and eye pathology from any family member. Family
Anamnesis of endocrine tumors and adrenal pathology (Men-IIB, family resistance to glucocorticoids).

Any symptoms indicating early sexual development.

Any of the following symptoms: Increased sweating, tremor, frequent chair, anxiety or high temperature intolerance.

Food consumption.

Neurological symptoms, including violations. Is the smell preserved? (Anosmia is associated with hypogonadism with squumna syndrome).

Level of development or education. Are there any specific motor or behavioral disorders?

When conducting an objective examination, with tallness, special attention is paid to the following indicators.

The growth dynamics standing and sitting, body weight and head circumference. The presence or absence of disproportion is an important feature. In the syndrome of the soda, the head circumference is increased, and since the coefficient of standard growth deviation (SDS) no longer changes after 2 years, such children cease to seem very high.

Horizontal stria on the skin of the back is often observed in children with rapid growth, regardless of its cause.

Dimorphic signs.

Neurlas, an increase in the thyroid gland or hypertension (in the early stages of paroxysmal) at Main-IIB.

Any signs of hypogonadism or cryptorchism; macroorchidism (observed in the syndrome of the brittle x-chromosome, aromatase deficiency).

Sheets and hairy ears are observed in infants born from matery with diabetes.

Browse palms (with giantism).

Restriction of field fields, view of the optic nerve, position of the lens.
Goiter, tremor, exophthalm or other signs of thyrotoxicosis.

Interpretation of the data obtained

The absence of any physical deviations or disproportions in the absence of signs of premature puberty: if the body mass< роста = семейная высокорослость; если перцентили массы тела > growth (or value exceeds 97% on the body mass curve in relation to growth) \u003d alimentary pathology.

Large body sizes in combination with specific donorphic symptoms and intellectual disorders: one of the syndromes accompanied by tallness.

Disproportionate structure with normal intelligence: the presence of the arachnodactilia \u003d marfane or bils syndromes; In the event of a new mutation in the family history, there may be no cases of the disease; moderate tallness, neuros of lips, language or century, as well as cases of the disease in the family (although there are often new mutations) \u003d Maine IIB; moderate tallness, hypogonadism and anosmia \u003d squid syndrome;
moderate tallness and hypogonadism \u003d isolated or yathedral (for example, due to irradiation) hypogonadism; Aromatase deficiency.

Disproportionate body structure with mental retardation: hypogonadism or cryptorchism \u003d doubling x-chromosome; If pathology from the eye and the nervous system \u003d homocystinuria comes to the fore Syndrome breaking the X-chromosome. Increase in one side of the body or one limb: when combined with donorphic signs shown in Table. 3.1, \u003d Beckvita-Vidman syndrome; when combined with \u003d Clippel-Trenone-Webera syndrome; When combined with linear nevys and lipoms \u003d proteus syndrome.

Large body sizes in the absence of imbalance: if they manifested themselves from birth \u003d neonatal hyperinsulinism; With an increase in the growth rate, neurological symptoms of the crime of the crossing of optic nerves or skin symptoms \u003d pituitary giganty; in the presence of goiter, exophthalma, tremor, tachycardia \u003d thyrotoxicosis; In case of early sexual development (formerly 8 years old in girls and 9 years old, boys) \u003d premature sexual development.

X-ray and laboratory research

X-ray and laboratory studies in the case of tallness are required less frequently than when low.

The radiograph of bones of the brush and wrist to determine bone age can serve both for assessing physiological maturity and to confirm the arachnodactly. To identify the protrusion of a solid cerebral shell in the lumbar-sacralized department, an MRI is required during the MRI syndrome, however, testimony for this study in the absence of neurological symptoms from the lower extremities rarely occur.

The bone age is moderately accelerated with family tallness (early publiste) and more significantly with premature sexual development and thyrotoxicosis.

The pronounced acceleration of bone age is noted under the Marshall-Smith syndrome; whereas with other donorphic syndromes, accompanied by an increase in body, bone age is accelerated to a lesser extent. With Vaver Syndrome, the maturation of the wrist bones is accelerated relative to the small brush bones.

The metacpal index is calculated as the average ratio of length and width of II and V Metro bones. The arachnodactyline is determined by the index value above 8.5, although in practice it complements the results of the clinical evaluation on external signs.
The presence of pathologically modified genital organs is an indication for karyotyping.

In case of suspected Men-IIB based on the disease in the family or the presence of neur on the mucous membranes in a child with a marfan-like phenotype, it is necessary to quickly determine the concentration of calcitonin in the blood and vanillamindic acid in the urine and confirm the diagnosis during PET-protoncogencogels (RET) on the chromosome 10q Since later the diagnosis of medullary cancer of the thyroid gland may have difficult consequences.

Neonatal hyperinsulinism in children born with mothers without diabetes, can be confirmed when identifying inadequately high for hypoglycemia insulin levels.

If there are suspicions, then to confirm the presence of an depressed level of TSH, the definition of the function of the thyroid gland is shown; The same applies to urine analysis to determine the level of homocystin.

With suspected pituitary giantism, an increase in the level of IFR-1 may be useful screening test. Additionally, the definition of the profile of the physiological secretion of gr (growth hormone) is also confirmed, and the absence of the suppression of glucose is also confirmed.

One-year isolation (causing imprinting imprinting IGF-2 on a short shoulder of chromosome 11) is detected in 80% of Becvita-Vidman syndrome.

Treatment

Treatment of tallness in children aimed at reducing the final growth is highly specialized and should be carried out only in those centers where there is experience of such therapy.

With idiopathic tallness, the final growth above 185 cm in women and 200 cm in men can be conditionally defined as "excessive", although a lot depends on the psychological adaptation of the child and support from parents and peers. It would be a mistake to treat the child because of the inadequate perception of tallness or negative experience in the past of someone from his parents.

Artificial induction of accelerated puberty can somewhat reduce the final growth. This is usually achieved by the appointment of high daily doses of ethinelstradiol (10-200 mg inside) girls and injectable testosterone depot boys (up to 500 mg every 2 weeks). With this treatment of tallness, both psychological problems associated with the sudden occurrence of puberty and side effects in the form of pain in the field of mammary glands and genitals, a sudden appearance of acne, etc. In boys receiving depot drugs from tallosterone group, The development of priapism is described; In girls who receive treatment with estrogen, thromboembolism. Stay unknown and cause concern the risks of the development of remote side effects, especially in girls whose family history is burdened by software.

Currently, clinical trials under the use of a recombinant long-acting counterpart of somatostatin are being carried out, which represents a more physiological approach to tall therapy, but the long-term results of such treatment are still not clear.

It is often that treatment by sex hormones patients with marfan syndrome should be carried out with caution due to the theoretically existing increase in the risk of cardiovascular diseases, although there is no published evidence of this provision.

When installing the diagnosis of tallness and Maine IIB, an emergency prophylactic thyroid system is shown, followed by the appointment of substitution treatment with levothyroxine sodium, vitamin D and calcium preparations, as well as lifelong observation for the early detection of feochromocytoma.

Most boys with tallness and duplication X-chromosome show replacement therapy testosterone, which makes it possible to achieve the development of secondary sexual signs and reduce the imbalance. This is usually achieved by the administration of testosterone depot (50-100-250 mg consistently), although patches and oral preparations can be used in some centers. All of these listed types of treatment may worsen behavioral problems with tallness.

With different syndromes, accompanied by tallness, it was attempted to reduce the final growth of surgical resection of segments of long tubular bones, which, however, had a limited success and led to frequent disability during tallness due to developing asymmetry. Drilling epiphesis in the upper part of the tibia and the lower part of the femoral bone can lead to more positive results with the appropriate experience of such interventions.

The article has prepared and edited: a surgeon doctor

Tallness is the excess of normal growth rates of more than two points. Growth is programmed genetically and depends on many factors.

This state may be accompanied by increased fatigue, posture disorder, problems in sexual development and so on.

Causes of tallness

The cause of tallness can be hereditary predisposition. In addition, endocrine diseases can also cause enhanced growth. In some cases, genetically chromosomal pathologies are noted. Sometimes tallness is explained by early sexual development.

Constitutional and hereditary tallness is most often diagnosed in boys. This state is estimated as a norm. At the same time, neither mental nor physical development suffers. When examining the blood of special changes is not observed. This is the most common cause of tallness.

In addition, the increase in the growth of the child's skeleton may be observed as a result of the presence of a STG-secreting tumor, cerebral giantism, Becvita-Vidmen syndrome, hymitoneanuria, a habitatful congenital hyperplasia of adrenal glands, obesity, as well as with increased development of estrogen and androgen.

Symptoms of tallness

The main sign of pathology is high growth, that is, its inconsistency of the norms. There are ways to determine the growth of the child in the future. So, for boys, it is calculated by the formula: the growth of the father plus the growth of the mother, divided into two and plus 6.5 centimeters. Girls have the last digit minus. Exceeding normal indicators for two or more indicator is a tallness.

With enhanced growth, changes from the vascular system and muscle are noted. In addition, such people in the future are prone to an increase in blood pressure. In addition, they have a longer recovery period after the suffering diseases.

It should also be noted that high growth becomes the cause of the child's team. Girls often shy their growth and try to hide him in every way. They begin to slouch, which leads to the formation of diseases of the spine. As a result of the fact that the muscular skeleton does not have time to form with the same at the speed as the bone, there is a lack of weight compared to growth. In addition, given that the heart is also a muscular body, often in tall children there are problems in the work of this body. This is manifested in the form of weakness, dizziness, heart pain, and so on.

Diagnosis of tallness

To clarify the diagnosis, the parents should be interviewed and determine whether there is no inheritance-constitutional form that does not require any treatment. In addition, it should be analyzed to determine the level of STG, amino acids, serum in the urine, blood glucose, as well as surveys on the content of hormones.

In some cases, it may be necessary to carry out tomography, tissue biopsy (with the defeat of the adrenal glands), radiography, ultrasound research, and so on.

Treatment of tallness

There is no special treatment for tallness today. The use of hormonal drugs can lead to serious side effects, which causes to abandon this technique.

In the event that the cause of tallness is related diseases, their treatment should be carried out. For example, under the tumors of the adrenal glands, they are deleted with subsequent substitution therapy.

Prevention of tallness

There are no specific prevention of this pathology. With suspected disease, a child should be examined to eliminate diseases of vital organs.

Under the tallness, there is an excess of the child's growth of more than 2.0 SDS (standard deviation coefficient) - 2.3 percented - for this age, gender and population.

In children allocate primary, secondary and idiopathic tallness.

At primary include:

• syndromes with violation of sex chromosomes - clanfelter (47 XXY), 47 xyy, fragyl X chromosome, 47 xxx;
• dysfast syndromes due to metabolic or connecting disorders - marfan syndrome, homocystinuria, total congenital lipodystrophy (Berardinelli syndrome);
• dysfast syndromes with symmetric tallness (Banyan - Riley - Ruvalkaba, Elealda, Marshall - Smith, Nevo, Simpson - Golaby - Belel, Satos, Vevey);
• dysfast syndromes with partial (asymmetric) tallness (Beckvita - Vidmen, Klippel - Treple - Weber, Prota).

Secondary tallness includes:

• hyperproduction of growth hormone against the background of volumetric education pituitary
• hyperinsulinism;
• exogenous-constitutional obesity;
• family deficiency of glucocorticoids;
• conditions causing tallness in children and normal growth or lowness in adults - premature sexual development (PPR), exogenous effect of estrogen or androgens, thyrotoxicosis, congenital hyperplasia of adrenal cortex;
• states predetermining normal growth in children and tallness in adults - a shortage of gonadotropic hormones, aromatases, dysfunction of estrogen receptors.

Idiopathic (normal option) Tallness includes genetic (family or constitutional) and unseasonal idiopathic forms.

Survey steps

Anamnesis is provided, clinical examination with the use of instrumental and laboratory methods.

Anamnestic data:

• clarification of parental growth with the calculation of genetic (targeted) growth and determination of the growth corridor of the child; Genetic (target) growth for a boy \u003d (mother's growth in cm + father's growth in cm) / 2 plus 6.5 cm; For the girl \u003d (mother's growth in cm + father's growth in cm) / 2 minus 6.5 cm; Growth corridor in boys: on a somatogram (growth curve) marks the growth of the father - one border, the growth of the mother plus 13 cm is the second border; Girls: Mother's growth is one border, the height of the father minus 13 cm - the second border;
• rising Sibs, Grandparents;
• term of gestation, pregnancy and childbirth;
• growth and weight of the child at birth;
• child growth rate from the first months of life until the doctor appeals;
• deadlines for the start of puberty from parents;
• patient diseases during life.

Clinical examination:

• measurement of growth and patient mass;
• measurement of the ratio of the length of the upper body to the length of the lower, measurement of the ratio of the hands to the length of the body (body proportion);
• evaluation of the availability of dysmorphogenesis with stiffs (congenital development features);
• evaluation of sexual development (stage on Tanner);
• assessment of intelligence, smell.

Laboratory and instrumental examination:

• common and biochemical (creatinine, urea, potassium, sodium, calcium, phosphorus, alkaline phosphatase, glucose, hepatic enzymes) blood test;
• radiograph of the left brush and wrist with bone assessment and the calculation of predicted growth using index tables;
• predictable (final) child growth in cm \u003d child growth in cm /% bone maturity x 100%;
• hormonal examination (spectrum depends on the proposed pathology) - a somatotropic hormone (STG), an insulin-like growth factor-1 (IFR-1), an insulin-like growth factor, binding protein-3 (IFRSB-3), luteinizing hormone (LH), follicle-stimulating hormone (LG) FSH), testosterone, estradiol, dehydroepiyndrosterone, 17-hydroxyprogesterone, insulin / C-peptide, thyrotropic hormone (TG), thyroxine free (T4 sv), antibody to thyroid peroxidase (TRU) and TG receptors;
• oral glucose-bearing test (OGTT) with definition of STG levels every 30 minutes for 2 hours. Normally, in response to hyperglycemia, there is a decrease in the levels of STGs up to the minimum determined (suppression). Under giantism there is no decrease in STG below 1 ng / ml, in 30% of cases there is a paradoxical emission of STGs in response to the glucose load;
• inspection of an ophthalmologist (eye bottom, field of view), consultation of the neurologist;
• cytogenetic analysis;
• the content and spectrum of amino acids (methionine and homocysteine \u200b\u200bin the urine and blood serum);
• CT (MRI) of the brain and the field of pituitary gland with mandatory contrast;
• molecular diagnostics.

Differential diagnosis of tallness in children

In fig. 1 shows an algorithm for differential diagnosis of diseases accompanied by tallness in children, starting from the newborn period.

By the occurrence of the occurrence of tallness:

• fetal macrosium or prenatal tall syndrome;
• postnatal advance ahead of physical development leading to tallness in childhood;
• postnatal advance guarantee leading to tallness in adults.

Fetal macrosia associated with hyperinsulinemia and hypoglycemia

Fetal macrosia. It is divided into diseases associated with the presence or absence of hyperinsulinemia and hypoglycemia (Fig. 2).

Newborn from Mothers with diabetes

Durable noncompensated violations of carbohydrate exchange in pregnant woman is the most common cause of the birth of a child with macros. Long-term hyperglycemia in a pregnant woman with undiagnosed (gestation), sub- or decompensated diabetes mellitus leads to the hyperplasia of the β-cells of the fetal pancreas, causing an increase in the secretion of fetal insulin. Chronic hyperinsulamia stimulates an increase in the expression of the IFR-1, which is manifested by increasing the concentration of IFR-1 at the birth of a child. On the other hand, insulin, possessing an anabolic effect, has a rustimulating effect on the fruit.

In the presence of severe placental dysfunction, vascular disorders in a newborn from mother with diabetes mellitus can be observed intrauterine growth delay, congenital malformations (heart, urinary system, eye, caudal digesia, microcephalus). Frequent problem - transient early postnatal hypoglycemia. Mothers with noncompensated diabetes are raised by the risk of premature, children with hyaline membrane disease, hypocalcemia, prolonged hyperbilirubinemia, thrombosis (renal veins), transient cardiomyopathy.

Permanent hyperinsulinemic hypoglycemia of newborns (PGG)

This group of congenital diseases is based on the defect of the development or functioning of the β-cells of the pancreas, which causes an uncontrolled insulin secretion. The latter leads to increased utilization of glucose and the development of severe hypoglycemia. The frequency of occurrence of PGG is 1 case by 50,000 newborns in the European population.

Two forms of PGG newborns are distinguished: focal (isolated) and diffuse hyperplasia of the -cells of the pancreas. Most family and sporadic cases of the disease have an autosomal-recessive type of inheritance. With some family forms of PGG, mutations are found in KCNJ11 and ABCC8 genes (SUR1 and KIR6.2 subunits of the pancreatic catf channel).

Classic clinical manifestation of PGG - macros for this gestational age and resistant symptomatic hypoglycemia in the first days of life.

For correction, a high glucose feed rate is required - more than 10 mg / kg / minute. The laboratory criteria for hyperinsulinemic hypoglycemia include low levels of ketone bodies and free fatty acids, high insulin and s-peptide.

Beczit Syndrome - Vidmana (SBB)

A group of syndromes, which are accompanied by a newborn macros, with an increase in internal organs are described. They are based on the excess secretion of the insulin-like growth factor - 2 (IFR-2). The most common disease is Becvit's Syndrome - Vidmana (Synonym: Whose Syndrome of Vesteromegaly, Omfatsema and Macrogness). The frequency of occurrence of the SBI is 1 case by 13,700 newborns.

The cause of the SBI is a change in the number of ruggulatory genes located at the end of the short shoulder of the 11th chromosome (11p15.5). Molecular disorders with a given disease are complex and explained the variability of the phenotype. 10% of patients with SBI have chromosomal disorders. In other 90% of cases, molecular defects of well-known genes participating in the pathogenesis of syndrome and candidate genes detected in sporadic cases are determined.

The minimum diagnostic signs of the SBI include the macroglossee, the hernia of the umbilical cord, macros, notches on the urine of the oars, hypoglycemia.

Frequent anomalies are macroglosses and Ofaite (less often the discrepancy between the lone of abdominal muscles). Macros is noted from birth (the length of the newborn more than 52 cm and the mass of over 4 kg) or develops postnatally. Microcephaly or hydrocephalus may be observed; Speakers; bite anomalies associated with the hypoplasia of the upper jaw and the relative hyperplasia of the lower; Exophthalm; Relative orbits hypoplasia. Often there are hemigipephy and pigment nurses.

Vesteromegaly (hepatomegaly, splenomegaly, nephromegaly, pancreatomegalia, less often - cardiomegaly), uterine hyperplasia, urinary bubble, clitoris, thymus.

In 30-50% of patients, hyperinsulinemic hypoglycemia observed due to hyperplasia of the pancreatic cells. In most cases, it is transitious and is borne by the introduction of glucose and diazoxide. Part of the patients for the normalization of glycemic indicators requires partial pancreaticectomy. Moderate mental retardation is usually associated with hypoglycemia.

In patients with SBI, the risk of the development of embryonic tumors (Wilms tumor, hepatoblastoma, adrenocortical carcinoma, gonadoblastoma) is increased.

Simpson Syndrome - Golaby - Belel (SGB)

The disease relates to X-bound syndromes with prenatal and postnatal tallness. Minimum diagnostic signs are macros (weight at a birth of 4,000-5,000 g), anomalies of the face of the skull, polydactyl, nail hypoplasia.

Other phenotypic manifestations are similar to SBI. Macrogness, sights, hyperinsulinemic hypoglycemia, a tendency to embryonic tumors are noted. Men's growth reaches 192-210 cm.

The basis of the SGB syndrome is functional disorders of a gene that plays a role in the growth control of embryonic mesodermal tissue, Glypican 3 (GPC3). The potential relationship of the receptor of this gene and IFR-2 is discussed, which can explain the similar clinical signs of SGB syndromes and SBI.

Perlman syndrome

This rare genetic disease is characterized by prenatal macroshimia, renal gamartee, predisposition to fetal tumors (Wilms tumor), hypoglycemia against the background of the hyperplasia of the island cells of the pancreas, facial disorthy. Most patients dies in the neonatal period. The cause of the disease is currently unknown.

Fetal macrosium with normal insulin level

Sotos syndrome

The population frequency of sweat syndrome (cerebral giant syndrome) is unknown. Most cases are sporadic. Family shapes of syndrome have an autosomal dominant type of inheritance. Minimum diagnostic signs include acromegaly, increased growth, mental backwardness, coordination violation. At birth, it is characterized by an increase in body weight and growth of more than 90s percented. There is an acceleration of growth in the first years of life, the growth of patients exceeds the 97th percenter. Height acceleration lasts up to 4-5 years. Paulic development comes in normal terms, early puberty may be celebrated.

Results of levels (basal and during OGTT) STG, IFR-1, IFRSB-3 have normal values. There are no specific laboratory and instrumental signs of syndrome.

Macrocephalus is observed with protruding headquarters, progeting, hypertelorism, an antimonymogoloid eye cut, protruding lower jaw, macrogloss, high palate, squint. Scoliosis, enlarged foot and brushes, the catch of the fingers of the feet are described. Increased risk of neoplasia, in particular hepatic carcinoma, Wilms, ovarian tumors, parachite glands. The degree of mental retardation is moderate. A convulsions are noted, coordination breach.

Marshall Syndrome - Smith

This disease belongs to rare genetic syndromes and is characterized by prenatal tallness, bone progression, mental delay, facial stigmas, large sizes and stop, thickening of the proximal and average phalanx of the fingers. The main cause of the death of patients in early childhood is pulmonary failure. The molecular reason for the development of syndrome is currently unknown.

Complaints on high growth Less common than low, since many parents are proud that their high growth children. However, some adolescents (mostly girls) are concerned and consider themselves too high during a puberty growth jump. The causes of tallness are shown below.

Causes of premature development or high growth:
I. Obesity:
- The puberty period comes before, so the final value of growth is less than in childhood

II. Secondary:
- Hyperthyroidism
- an excess of sex hormones - a premature puberty period for any reason
- Excess adrenal hormones and androgens - congenital adrenal hyperplasia
- True (excessive secretion of gr)

III. Syndromes:
- High height and too long legs:
Martan Syndrome
Homocystinuria
Klinfelter syndrome (47 XXY and XXY karyotype)

Proportional high birth growth:
Diabetes of Mother
Primary hyperinsulinism
Bekvita syndrome

Sot Syndrome is accompanied by an increase in the head, the characteristic features of the face and the difficulty of learning

Growth and weight of children

In most cases high growth It is inherited from tall parents. Overbinding in childhood, causing obesity, stimulates early development and leads to high growth. However, since in this case, the puberty period usually occurs a little earlier average, the final growth may not be too high.

Secondary endocrine diseases There are rarely found. Both congenital hyperplasia of adrenal glands and early puberty lead to early merging of epiphysis, so after early rapid growth, its speed is reduced and the final growth does not greatly exceed the norm.

Martan syndromes (The disease of the loose fibrous connective tissue) and the clanfelter (XXY) cause high growth with disproportionately long legs, and the state of XXY is also accompanied by infertility and difficulties in learning.

High children There may be inconvenience due to the fact that they behave with them as adults, as they look older than their chronological age. Excessive growth in precompretative or in the early pubertal period, adolescent girls can be adjusted using estrogen therapy to induce early epiphysis.

However, since this treatment leads A variety of results and has dangerous side effects, it is rarely used. In cases of particularly pronounced tallness, the possibility of surgical destruction of epiphydes on the legs can be considered.