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Endocrine diseases often prevent normal functioning, and in some cases, if the damage is sudden and very significant, endocrine dysfunction can even be life threatening (especially sudden adrenal or thyroid dysfunction). What are the most common endocrine diseases, what are their symptoms and what do they result from?

Endocrine diseasesare a huge group of diseases not only strictly affecting the hormone-producing organs, but also many other systems. This is because the endocrine system regulates the work of the entire body, so the symptoms come from the target organs for the hormones produced by organs whose function is impaired.

The spectrum of ailments of each endocrine disease is enormous, and the examples described below in no way exhaust the multitude of symptoms present in endocrine diseases. These diseases are described in more detail in separate articles linked in the text.

The superior function over the endocrine system is exercised by the hypothalamus and the pituitary gland, which, through the so-called tropic hormones (stimulating the appropriate endocrine glands, e.g. TRH - thyroid stimulating hormone), control the secretion of other hormones.

Feedback is a mechanism responsible for this regulation, thanks to which the diagnosis of endocrine diseases is also facilitated.

In the case of primary hypothyroidism, the amount of tropic hormones is greater because the body tries to stimulate the inactive gland to work.

In primary hyperactivity, the opposite is true - tropic hormones drop as an attempt to inhibit the hyperactive gland.

Treatment of endocrine diseases is complicated and often long-lasting.

In the case of hypothyroidism, substitution therapy is used, i.e. oral or parenteral administration of the missing hormones. Due to the fact that the endocrine system is a very precise mechanism, and the plasma concentrations of hormones are very low, in the order of micrograms per liter, the correct dosage of the preparations is a very difficult art.

In the case of an increased amount of hormones in a given organ, a therapy may be applied to eliminate the symptoms of their excess, less often all or part of the organ that produces them may be removed, andin the case of the thyroid gland, we also have the option of treating with radioactive iodine, which causes ablation, i.e. the destruction of the organ.

Endocrine diseases in children are often congenital and often accompanied by other defects. It happens that the course of the disease is serious, preventing proper development, therefore the suspicion of diseases of the endocrine system, especially in newborns, should be diagnosed as soon as possible in order to start the therapy immediately.

Endocrine diseases: how the endocrine system works

The endocrine system (endocrine, endocrine, endocrine) is structured differently than most systems in our body - its organs are not structurally connected, but they play a common role, which is to control and coordinate the actions of other organs.

The endocrine system consists of:

  • hypothalamus and pituitary gland
  • thyroid and parathyroid glands
  • pancreas
  • adrenal glands
  • testicles and ovaries
  • some also include thymus

These organs produce and secrete hormones directly into the blood, i.e. regulatory molecules that can be both amino acid derivatives, cholesterol and peptides.

They act on specific target tissues changing their metabolism. Depending on the structure of the hormone, its receptor is located on the cell membrane or in the cell nucleus.

The hypothalamus plays the primary role over the endocrine glands, the hormones produced here are transported to the pituitary gland, where they are secreted.

These hormones are liberins and statins, i.e. substances that stimulate and inhibit the activity of the endocrine glands, respectively. In addition to secreting hormones in the hypothalamus, the pituitary gland produces and secretes its own tropic hormones.

The regulatory mechanism is based on the so-called feedback, most often negative, which means that the hormone produced by the hypothalamus stimulates the pituitary gland to produce the tropic hormone, which stimulates a specific organ to produce hormones characteristic for it, which in turn act on tissues and target organs, but also on the hypothalamus and pituitary gland by inhibiting the secretion of liberins and tropic hormones.

For example, the hypothalamus produces thyreoliberin (TRH), which stimulates the pituitary gland to produce thyrotropin (TSH), which in turn mobilizes the thyroid to produce the hormones triiodothyronine and thyroxine (T3 and T4), but also inhibits the secretion of TRH.

Thyroid hormones inhibit the secretion of both TRH and TSH. The nervous system also has little influence on the secretion of hormones - especiallythe autonomic part (sympathetic and parasympathetic systems).

Importantly, all organs of the endocrine system are very vascularized, because the flowing blood receives and distributes the secreted hormones throughout the body.

The hormones produced by the endocrine system organs and their basic functions are presented below:

Hypothalamus

  • vasopressin - increases the absorption of water in the kidneys (from primary urine), which reduces the amount of urine excreted and increases blood pressure
  • oxytocin - stimulates the contraction of smooth muscles of the uterus and the secretion of milk
  • liberins and statins - regulation of hormone secretion by the pituitary gland

Pug

  • somatotropin (growth hormone) - stimulates the body's growth, metabolism, affects the carbohydrate and fat metabolism
  • prolactin - initiates and maintains milk production
  • thyrotropin - stimulates the secretion of thyroid hormones
  • adrenocorticotropin - stimulates the secretion of adrenal cortex hormones
  • gonadotropins - follitropin and lutropin - affect the development and function of gonads
  • lipotropin - stimulates the breakdown of fats

Pineal gland

  • melatonin - affects the circadian rhythm, increasing sleepiness

Thyroid

  • thyroxine and triiodothyronine - enhance metabolism - metabolism and energy production, stimulate protein formation, reduce cholesterol
  • calcitonin - causes the absorption of calcium into the bones and reduces its amount in the blood

Przytarczyce

  • parathyroid hormone - causes the release of calcium from the bones into the blood, where it increases its concentration, is the main hormone responsible for calcium metabolism

Thymus (organ declines during puberty)

  • thymosin - stimulates the maturation of lymphocytes (cells responsible for immunity)

Pancreas - in its structure it has 4 types of cells that produce different hormones:

  • glucagon (produced by A cells) - increases blood glucose levels
  • insulin (produced by B cells) - lowers blood glucose levels

The blood glucose level is regulated by increasing or inhibiting its transport to cells, as well as by stimulating or inhibiting its synthesis from spare fats.

  • somatostatin (produced by D cells) - regulates the secretion of gastrointestinal hormones by regulating the work of the digestive system
  • pancreatic polypeptide - inhibits the pancreatic function

Adrenal cortex

  • mineralocorticosteroids - mainlyaldosterone, increases sodium absorption and reduces the excretion of potassium by the kidneys
  • glucocorticosteroids - mainly cortisol, it has multiple effects, which can generally be described as stimulating the body: it increases blood glucose levels, inhibits protein synthesis
  • androgens - e.g. dehydroepiandrosterone causes the development of secondary sexual characteristics, accelerates protein synthesis and growth of the organism

Adrenal medulla

  • adrenaline (the so-called fight or flight hormone) - has a strong effect and stimulates the body immediately: it narrows the blood vessels of the skin, intestines and kidneys, but dilates in the muscles and coronary arteries, increases blood pressure, heart rate, dilates the pupils, increases blood glucose levels
  • noradrenaline - works similar to adrenaline, but less intense, its main role is to maintain high blood pressure

Kernels

  • androgens - mainly testosterone - regulates sperm production, influences male features of structure and behavior, and regulates sex drive.

Ovaries

  • estrogens - regulate the menstrual cycle and affect the female structure and behavior
  • progesterone - prepares the uterus to receive a developing embryo, supports the initial stages of pregnancy
  • relaxin - inhibits uterine muscle contractions

Endocrine diseases: hypothalamus and pituitary gland

Diseases of the hypothalamus and pituitary gland affect not only the secretion of liberins and statins, thus impairing the work of other organs of the endocrine system, but also the hormones they produce and secrete - vasopressin and oxytocin. The most common diseases of these organs are:

1.Diabetic central insipidus- caused by vasopressin deficiency. Cells that produce or transport this hormone are damaged as a result of tumors, trauma, genetic diseases or autoimmune reactions. The lack of a hormone responsible for concentrating urine causes the excretion of very large amounts (over 4 liters / day). Thirst is proportionally increased.

2.Syndrome of inappropriate vasopressin secretion (SIADH)- in this case the problem is the opposite, due to various factors (injuries, other diseases, medications) the hypothalamus produces too much vasopressin, which results in water retention in the body and excreting a disproportionate amount of sodium. Such electrolyte disturbances result in apathy, headache, nausea, and altered consciousness.

3.Hypopituitarismis a group of symptoms resulting from the lack of secretion of liberins, statins and the hormonegrowth, the disease affects the entire endocrine system, impairing the work of the adrenal glands, thyroid gland, gonads and the production of milk in mothers.

Symptoms include: growth deficiency (if damage occurs during the growing period), low blood pressure, hypothyroidism, menstrual disorders.

There are many reasons, including: injuries, neoplasms, inflammatory changes, blood circulation disorders (the so-called pituitary stroke), the so-called Sheehan's syndrome is characteristic, i.e. postpartum pituitary necrosis, it can occur if a woman has lost a lot of blood.

4.Pituitary tumors (carcinomas and adenomas)may or may not be hormonally active. Their symptoms result from an excess of pituitary hormones or from the place where the tumor grows, and due to the proximity of anatomical structures, pituitary adenomas most often compress the neurons of the visual pathway, causing visual disturbances. The most common hormones produced by active adenomas are: a. prolactin in women causes amenorrhea and galactorrhoea. growth hormone, which is the cause of gigantism in children (overgrowth) and acromegaly in adults, the latter is associated not only with enlargement of the hands, bones, face and internal organs, but also with a greater risk of hypertension, diabetes, and sleep apnea. adrenocorticotropic hormone, its overproduction results in excess cortisol secretion and Cushing's disease (symptoms similar to the Cushing's syndrome described below) 5.Nelson's syndromesometimes appears after the adrenal gland has been removed. Occasionally, the lack of the suppressive effect of adrenal hormones on the pituitary gland causes the rapid development of adenocorticotropic hormone-secreting adenoma. Due to the lack of a target organ for adrenocorticotropin (adrenal glands), the occurrence of symptoms depends only on the mass of the tumor pressing against the brain.6Empty saddle syndrome- due to damage to the meninges covering the Turkish saddle within its area excess cerebrospinal fluid leaks, causing pressure on the pituitary gland, other causes could be surgical removal or post-irradiation conditions. Empty saddle syndrome can damage the pituitary gland and disrupt the transport of hormones from the hypothalamus, resulting in hypopituitarism as described previously, and sometimes also visual disturbances.

Endocrine diseases: thyroid

They are one of the most common endocrine diseases, through their influence on metabolism, thyroid diseases affect the entire body, and their symptoms can come from many systems. Hyperthyroidism and hypothyroidism are syndromes of symptoms rather than diseases in themselves,the causes of their occurrence are other thyroid diseases.

1.Hypothyroidismleads to a slowdown in the metabolism of the system, among other things, there is an increase in body weight, fatigue and weakness, slow heart function, constipation, and menstrual disorders in women. There can be many reasons, such as autoimmune diseases, thyroiditis, ionizing radiation, all of which damage the organ. If left untreated, the disease can, in its extreme form, lead to a so-called hypometabolic coma, which is life threatening.

2.Hyperthyroidismis the opposite of hypothyroidism, increased metabolism causes weight loss, irritability, palpitations or diarrhea, the spectrum of symptoms is obviously much larger. An overactive thyroid can be caused by:

a.Graves' disease- it is an autoimmune disease in which, apart from excessive thyroid stimulation, there is also exophthalmos and sometimes goiter, i.e. enlargement of the thyroid gland.

b.Toxic nodular goiter- in this case, growth foci are formed within the thyroid gland, which produce thyroid hormones independently of hypothalamic-pituitary stimulation. The most common cause is iodine deficiency.

c.Single autonomic nodule , i.e. adenoma or other nodule secreting hormones similar to nodular goitre - without control.

3.Thyroiditis

a.bacterial thyroiditis- an acute, serious disease where infection occurs through the blood or through the continuity of surrounding tissue. The treatment is antibiotic therapy, and not infrequently surgery.b.autoimmune thyroiditis - Hashimoto's disease- most often in young women, it is an autoimmune disease in which own lymphocytes produce anti-thyroid antibodies, which leads to the stimulation of the organ's function and the development of hypothyroidism, a variant of the disease is painless thyroiditis c.drug induced thyroiditis , most often after antiarrhythmic drugs, it causes hyperthyroidism or hypothyroidism d.subacute thyroiditis- the so-called de Quervain's disease, possibly a viral thyroid infection with four phases: hyperthyroidism, normal function, hypothyroidism and normal thyroid function again. e.radiation thyroiditis- after radioactive substances, including radiation therapy 4.Nontoxic nodular goitre (neutral goiter)- this disease is dominated by a disturbance in the structure of the thyroid gland - hyperplasia, fibrosis and degeneration, organit becomes larger, the asymmetry of the neck and its greater circumference are visible. Thyroid function is undisturbed. 5.Thyroid carcinomas- there are several types with significantly different aggressiveness and growth rate: papillary carcinoma, follicular carcinoma, medullary carcinoma and anaplastic carcinoma.

The last one grows very fast and metastasizes quickly. Papillary and follicular cancer have a much better prognosis if they are detected early enough, their excision, sometimes combined with radioiodine treatment, in many cases allows for a complete cure.

Endocrine diseases of the parathyroid glands

The main task of the parathyroid glands is the regulation of calcium metabolism, this role is played by parathyroid hormone, which increases the concentration of this element in the blood by releasing it from the bones and stimulating absorption in the intestines (via vitamin D) .1.Primary hypoparathyroidism- a set of symptoms is caused by damage to the parathyroid gland (e.g. after surgery on the neck or in the course of the inflammatory process), the production of parathyroid hormone decreases, which in turn results in calcium deficiency and excess phosphorus in the body. The symptoms of these electrolyte disturbances include tetanus attacks or neurological disorders. 2.Secondary hypoparathyroidism- the symptoms are similar to the primary, but the cause is different: here hypoparathyroidism occurs due to excess calcium, which inhibits the function of the parathyroid glands. 3.Primary hyperparathyroidismis caused by damage to the organ itself: adenoma, hyperplasia, and very rarely cancer. The secretion of parathyroid hormone in this case is independent of the plasma concentration of calcium, the increase of which physiologically inhibits the function of the parathyroid glands. This disease results in an increase in blood calcium levels, bone destruction, and increased excretion of calcium in the urine.Secondary hyperparathyroidismc is the result of a reduced amount of calcium in the blood, the parathyroid glands react by increasing the synthesis of parathyroid hormone, and after a longer period of hyperplasia. This calcium deficiency is most often caused by kidney damage (e.g., advanced chronic kidney disease) .5.Tertiary hyperparathyroidismit is the autonomic production of parathyroid hormone in patients with secondary hypercalcemia, it causes hypercalcemia, and is most often observed in people treated with dialysis.

Read:

  • Hyperparathyroidism: causes, symptoms, treatment

Endocrine diseases of the adrenal glands

Adrenal glands produce several hormones, they are responsible, among others, for the transformation of proteins, carbohydrates, fatsand for suppressing immune reactions, electrolyte and water balance, and preparing the body for physical exertion.

Different hormones are produced by different cells of the adrenal glands, therefore the functions of the entire organ are rarely impaired, most often we observe a deficiency or excess of individual hormones.

1.Primary adrenal insufficiency (Addison's disease) , in this case damage to the adrenal cortex results in the destruction of cells responsible for the synthesis of cortisol (the main glucocorticosteroid), it is usually the result of an autoimmune process, infections or blood circulation disorders.

The symptoms are somewhat reminiscent of an overactive thyroid gland: sick people complain of weakness, fatigue, weight loss or diarrhea, a characteristic symptom is chisice, i.e. darker skin color in areas exposed to sunlight.

2.Secondary adrenal insufficiency , in this case the symptoms are similar except for the dark color of the skin, the difference lies in the cause of the disease - here it is a deficiency of ACTH, i.e. the pituitary hormone stimulating the adrenal function, usually as a result of taking cortisol preparations which, according to the feedback mechanism, inhibit the secretion of ACTH.

Read: Adrenal insufficiency

3.Acute adrenal insufficiency- adrenal crisis, it is a sudden significant deficiency of cortisol caused by an adrenal gland injury or hemorrhage of this organ. In this state, blood pressure drops significantly, consciousness is disturbed, it is a life-threatening disease. If acute adrenal insufficiency is accompanied by massive bleeding in the skin, it is Waterhouse-Friderichsen syndrome.

4.Cushing's syndrome- a syndrome of symptoms caused by an excess of glucocorticosteroids, it may be caused by the administration of high doses of glucocorticosteroids, autonomic adrenal nodules producing these hormones regardless of pituitary-hypothalamic stimulation, or finally excess pituitary adrencorticotropin (including of the accident, we are talking about Cushing's disease.)

Symptoms are very diverse and concern the metabolism of the entire system, they include: muscle weakness, easy skin damage, polyuria, susceptibility to infections, gastric and duodenal ulcers, and if the disease is long-lasting, also obesity, diabetes and osteoporosis .

5.Conn's syndrome, primary hyperaldosteronism- this is one of the examples of hyperaldosteronism of the adrenal glands, in this case the excess hormone is aldosterone, which affects the water and electrolyte balance.

The cause of this diseaseis the autonomous secretion of this hormone by: adenomas or cancer, but also in the course of congenital diseases, e.g. familial hyperaldosteronism.

The symptoms of Conn's syndrome result from an excess of sodium and a deficiency of potassium and hydrogen ions in the body, they are: hypertension, polyuria, muscle weakness and paresthesia (pins and needles).

Read also: Hyperaldosteronism: causes, symptoms, treatment

6.Hypoaldosteronism , as you can easily guess, it is a disease that stands in opposition to Conn's syndrome, in which there is an increase in potassium levels and a decrease in sodium.

7.Incidentaloma - accidentally detected tumor of the adrenal gland . In the era of widespread use of ultrasound, it is not uncommon to detect a tumor in the adrenal gland in people without any symptoms.

Most often these are benign adenocarcinomas, but it also happens that cancer is such a tumor, therefore incidentalomas require in-depth diagnostics, including computed tomography, plasma hormone tests and sometimes also a biopsy.

8.Adrenal carcinoma , it is a rare, but very malignant neoplasm, not always hormonally active. If it secretes hormones, it is most often cortisol, so the symptoms are similar to Cushing's syndrome.

9.Tumors secreting catecholamines , e.g. pheochromocytoma, it comes from cells of the adrenal medulla, which produce catecholamines (adrenaline and noradrenaline), the course of the disease is paroxysmal. At the time of the release of hormones, there are pressure rises, headaches, heart palpitations, muscle tremors, often also headaches, heart rhythm disturbances.

Neuroendocrine tumors

In addition to the typical endocrine organs, there are scattered clusters of cells that produce small amounts of no less important hormones: insulin and glucagon. It is from these cells that neuroendocrine neoplasms (GEP NETs) are formed, which may or may not be hormonally active, for example :

1.Insulinoma (insulin-secreting tumor)- originates from the B cells of the pancreatic islets, produces insulin, which causes a drop in blood glucose levels, most often paroxysmal. Symptoms include headaches, hand tremors, loss of consciousness, and may also resemble an epilepsy

2.Gastrinoma(gastrin-secreting tumor) - a gastrin-producing tumor that causes diarrhea and persistent, recurring gastric and duodenal ulcers (Zollinger-Ellison syndrome)

3.Glukagonoma(glucagon-secreting tumor) cancer that arises from cells that produce glucagon, an excess of this hormone causes diabetes, weight loss, mucositis anddiarrhea

4.VIPoma(tumor secreting vasoactive intestinal peptide)

5.Somatostatinoma(somatostatin-secreting tumor)

The last two are tumors that secrete hormones that regulate the digestive tract. VIPoma stimulates its action, while somatostationoma inhibits it.

6.Carcinoid- most often occurs in the intestines, produces serotonin, but in most cases the course is asymptomatic. If the amounts of the produced substance are unusually large, symptoms in the form of carcinoid syndrome may appear, such as: paroxysmal skin congestion turning into cyanosis, heart palpitations, sweating and diarrhea.

Multi-gland syndromes

They are characterized by impairment of the functioning of several endocrine glands, they are hereditary diseases, they include:

1. Autoimmune polyglandular hypothyroidism type 1 - characterized by candidiasis (mycosis) of the mucous membranes, hypoparathyroidism and Addison's disease

2. Autoimmune polyglandular hypothyroidism type 2 - in its course, there are: adrenal insufficiency, autoimmune diseases of the thyroid gland and sometimes type 1 diabetes

3. Autoimmune polyglandular hypothyroidism type 3 - autoimmune diseases of the thyroid gland, type 1 diabetes, anemia and vitiligo

Multiple endocrine neoplasm syndromes

These are syndromes in which, due to an error in the genetic material, various organs of the endocrine system are neoplastic.

1. MEN 1: is the coexistence of three diseases: primary hyperparathyroidism, endocrine neoplasms of the pancreas (insulinoma, glucagonoma) and gastrointestinal tract, and pituitary tumors.

2. MEN 2: in this case, the mutation causes a greater tendency to the appearance of: medullary thyroid cancer, pheochromocytoma and hyperparathyroidism or developmental anomalies in the form of neuromas and neuroblastomas (nodules on the skin).

Diabetes

A disease bordering on endocrine and metabolic disorders is diabetes, which we distinguish between several types: 1, 2, LADA and MODY.

On the one hand, this disease has a disturbance in the metabolism of fats and carbohydrates, but also the secretion of insulin or the tissue response to this hormone is abnormal.

This all leads to carbohydrate disorders manifested by increased blood glucose levels, and if this condition lasts for years, it has serious consequences for the cardiovascular system, eyes and kidneys.

Endocrine diseasesovaries

1.Hormonally active ovarian tumors

A minority of ovarian cancers are hormonally active tumors, most often they are benign, but they can secrete hormones: estrogens, progesterone, and even androgens.

Therefore, the symptoms associated with them result from the action of these hormones, they are: menstrual disorders, abnormal vaginal bleeding and virilization (i.e. the appearance of certain male features in women, e.g. excessive hair, increased tissue mass muscle, breast reduction, acne, or alopecia).

The hormonally active neoplasms include:

  • grains
  • pebble
  • fibroma
  • nucleoloma containing cells characteristic of the testes (Sertoli and Leydig's)
  • gynandroblastoma
  • gonadoblasotma

In their diagnostics, apart from ultrasound, the determination of plasma hormones is helpful, while the treatment involves tumor removal and possible further radio or chemotherapy.

2.Polycystic Ovary Syndrome

It is a common endocrine disorder in women (affecting up to 15% of women). The cause is too many ovarian follicles that mature simultaneously, they contain androgen-producing cells, the action of which causes the symptoms of the disease: amenorrhea, acne, hirsutism, obesity and often sterility. The amount of testosterone is increased and the ovaries are enlarged. Treatment is lengthy and surgery is often required.

3.MenopauseiPOF (premature ovarian failure)

Hormonal ovarian insufficiency is the inadequate secretion of estrogens, progesterone, or both. It occurs in every woman in the form of menopause (menopause), when the function of the ovaries stops and they stop producing adequate amounts of estrogen, accompanied by characteristic symptoms such as hot flashes.

If this condition occurs in younger women, especially before the age of 40, we are talking about POF, i.e. premature ovarian failure. It is too fast of menopause with all its features and consequences, therefore the condition requires immediate diagnosis and treatment.

Endocrine diseases of the testicles

1.Tumors of functional testes

These neoplasms are rare, and characteristically they secrete testosterone, androstenedione and dehydroepiandrosterone, ie typically "male" hormones, sometimes also "female" estrogens. These tumors include:

  • Leydig cell neoplasm
  • Sertoli cell neoplasm
  • grains
  • fibroma and pebble

2.Testicular Hormonal Failure

It is a very rare condition caused by damage to this organ by trauma, infectious diseases and their complications, it also occurs in people with underdevelopment of the testicles, as well as secondary to diseases of the hypothalamus and pituitary gland.

Depending on the age, when the damage takes place, it manifests itself as: in young boys - sexual maturation disorder, and in men - decreased libido, sometimes infertility, or the disappearance of male features of structure and behavior.

Endocrine diseases in children

Due to the multiple effects of hormones, endocrine diseases in children can significantly affect development, not only physical, but also intellectual.

It also happens that improper work of the endocrine system affects intrauterine development by disturbing organogenesis (formation of internal organs), including reproductive organs.

Therefore, the suspicion of endocrine disorders must be diagnosed and treated as soon as possible to avoid the deterioration of the disorder. Conditions caused by improper operation of the endocrine system are:

1.Short stature : disturbance of the secretion or function of growth hormone, sex hormones and thyroid hormones can lead to short stature, as can an excess of glucocorticoids.

Short stature is not always caused by an endocrine disease, but it can also be due to genetic defects, heart disease, kidney disease, or family short stature.

In the event of short stature, it is necessary to check the functioning of the pituitary, thyroid, adrenal glands and genitals.

2.High stature (gigantism) : causes are very similar to short stature (with reversal of the tendency of the amount of hormones secreted by these organs), and the diagnosis of this condition is also similar.

3.Sexual maturation disorders : the maturation process depends to a large extent on the endocrine system, especially gonadotropins, which directly affect the production of progesterone, estrogens and testosterone, determining secondary and tertiary sexual characteristics ( external genitalia and features of the body structure).

a.Premature puberty- onset of puberty before the age of 8 in girls and before the age of 9 in boys. There are many reasons, it can be:

  • trauma, congenital defect or tumor damaging the hypothalamic-pituitary junctions
  • tumors of the testicle and ovary autonomously producing sex hormones
  • congenital adrenal hyperplasia in whichthe secretion of adrenal androgens is stimulated, which in boys causes premature puberty, and in girls - amenorrhea and male features of the structure

b.Hypogonadism- delayed puberty, i.e. no features of puberty after 13 years of age in girls and after 14 years of age in boys:

  • endocrine diseases that secondarily disrupt the secretion of hypothalamic gonadoliberins, e.g. hypothyroidism, Cushing's syndrome, or excess prolactin
  • genetic diseases that result in the lack of secretion of hypothalamic gonadoliberins (each of them is caused by damage to a different gene) e.g. Kallman syndrome, Prader-Willi syndrome, Bardet-Biedl syndrome, Laurenc-Moon syndrome
  • damage to genital organs (testes and ovaries) as a result of genetic diseases, e.g. Klinfelter's syndrome, Turner syndrome, gonadal dysgenesis, resulting in disturbed secretion of sex hormones
  • Androgen insensitivity syndromes - in this case, despite the correct production of testosterone, the receptor is damaged, so the hormone does not work

4.Sex development disorderscan be caused by many factors, including abnormal chromosome numbers and genetic mutations. They can cause defects in the structure of the genital organs and interfere with their development, but they can also cause endocrine diseases that affect gender development: a.Testosterone synthesis disordersin boys: e.g. Smith-Lemli-Opitz syndrome, 5-α reductase deficiency, androgen insensitivity syndromes.Androgen excess in girls : congenital adrenal hyperplasia, agenesis of the Mullerian ducts5. Congenital hypothyroidism causes inhibition of brain development in newborns, mental retardation, often deafness and miscarriage. Other symptoms of this defect are anatomical abnormalities in newborn babies, prolonged physiological jaundice, feeding difficulties, or constipation. 6.Congenital hyperthyroidism , causes: intrauterine growth retardation, goiter (sometimes very large), prematurity, cardiac arrhythmias Congenital hyperthyroidism and hypothyroidism are described as separate units, because not only the mechanism of their formation is different, but also the effects of these diseases are much more severe than if they appeared in old age. 7. Children may also develop endocrine diseases characteristic of adults, but they are more often caused by congenital defects (genetic diseases, organ structure defects, etc.), and the spectrum of their effects is much greater due to the impact on the developing organism. Diseasescommon endocrine disorders for children and adults are e.g. a. prostab diabetes insipidus. Hypothyroidism, in addition to the typical symptoms in children, causing, inter alia, short stature and delayed sexual maturation c. hyperthyroidism, in addition to symptoms common to adults, also: high growth and acceleration of sexual maturation thyroid goitre. thyroid cancers f. Cushing's syndrome (e.g., McCune-Albright syndrome), which causes stunted growth, delayed maturation, and other symptoms of adrenal hyperfunction that also occur in adults. Addison's disease. phaeochromocytoma (e.g. in von Hippel-Linadu syndrome or neurofibromatosis) i. hypoparathyroidism. hyperparathyroidism, causing, inter alia, short stature, body mass deficiency. diabetes (apart from the types found in adults, mitochondrial diabetes and neonatal diabetes are more common in children)

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