Endokrynologia, diabetologia i choroby przemiany materii wieku rozwojowego : organ Polskiego Towarzystwa Endokrynologow Dzieciecych最新文献

Adiponectin, is a novel hormone secreted by the adipose tissue. This active protein plays a role in the regulation of whole body energy homeostasis. It enhances insulin sensitivity and has antiatherogenic properties, reduces hepatic glucose production, and diminishes gluconeogenesis. Adiponectin accelerates the oxidation process of fatty acids in muscle cells, reduces triglycerides plasma concentration. In addition, plasma adiponectin levels negatively correlated with BMI and fat content. Numerous analyses have indicated that hypoadiponectinemia is a consequence of the development of obesity in childhood. The adiponectin secretion in newborn children is higher than in older, an child small for gestational age has lower plasma concentration of this protein. Clinical studies suggest that adiponectin deficiency associates with gestational diabetes in women. However, serum adiponectin levels in type 1 diabetes have not been elucidated, probably factors other than glucose and insulin play a significant role in adiponectin secretion in type 1 diabetes.

The presence of late-onset hypocalcemia (>3 days of age) associated with hypomagnesemia generates a clinical dilemma. Such a disorder may exist as a result of magnesium deficiency with a secondary hypoparathyroidism, congenital hypoparathyroidism (HPT), phosphorus intoxication, activated mutation of calcium sensing receptor (CASR) or the presence of CASR stimulatory antibodies. In phosphorus intoxication, in contrast to the other reasons, serum PTH level is rather elevated. Calcium and phosphorus compete for intestinal absorption and thus if calcium intake is high then magnesium absorption is reduced and vice versa. Patient's history: 14-year-old boy was admitted to the ward because of tetanic seizure few days before. Severe hypocalcemia (1.49 mmol/L) with hypomagnesemia (13.8 mg/L) as well as metabolic alkalosis pH=7.65) and high phosphorus level (10.5 mg/dL) were noted. The boy was prepubertal, euthyroid and proportionally microsomic. Severely low serum PTH level (2 pg/mL) excluded phosphorus intoxication. Magnesium salts treatment alone (p.o.) was introduced but this treatment did not improve serum magnesium level as well as calcium concentration. Primary magnesium deficiency was excluded and therefore calcium salts supplementation and 1alpha(OH)D3 therapy, typical for HPT, was initiated combined with slow-released magnesium salts. Difficulties in the treatment tended to look for the digestive tract defects and finally, based on endomysial antibodies and duodenal biopsy the coeliac disease was confirmed. With gluten-free diet the significant improvement of calcium-phosphorus parameters has been observed showing that the autoimmune background of hypoparathyroidism is very likely.

Hypokalaemic periodic paralysis (HPP) is a rare myopathy inherited in autosomal dominantly pattern, characterized by episodic attacks of muscle weakness due to the decrease in serum potassium concentration because of ion channel's dysfunction. The thyrotoxic hypokalaemic paralysis (TPP) is an acquired form of a periodic paralysis associated directly with hyperthyroidism. HPP predominates in Caucasians, in contrast to TPP which occurs in 13-24% Asian with hyperthyroidism. Both types of hypokalaemic paralysis are similar in symptoms i.e. the sudden onset of limbs paralysis, often in the morning, after the night rest, preceded by intense exercise testing or hard work. The treatment and the prevention of TPP differs from that of HPP. Both, similarities and differences, between HPP and TPP are described in this report.

Unlabelled: Endothelial damage is one of the earliest stages in the atherosclerosis process. Adhesion molecules, secreted from dysfunctional endothelial cells are considered as early markers of atherosclerotic disease. Ultrasonographic evaluation of brachial arteries serves to detect biophysical changes in endothelial function, and evaluation of carotid arteries intima-media thickness allows to evaluate the earliest structural changes in the vessels. The aim of the study was to the evaluate levels of selected adhesion molecules (sICAM-1, sVCAM-1, sE-selectin, sP-selectin) and endothelial function with use of brachial artery dilatation study (flow mediated dilation--FMD, nitroglycerine mediated dilation--NTGMD) and IMT in carotid arteries in children and adolescents with diabetes type 1, as well as the correlation analysis between biochemical and biophysical markers of endothelial dysfunction.

Material and methods: We studied 76 children and adolescents, with mean age--15.6+/-2.5 years, suffering from diabetes mean 7.8+/-2.8 years, mean HbA1c--8.4+/-1.5%. Control group consisted of 33 healthy children age and gender matched. Adhesion molecules levels were estimated with the use of immunoenzymatic methods (R&D Systems). Endothelial function was evaluated by study of brachial arteries dilation--FMD, NTGMD, with ultrasonographic evaluation (Hewlett Packard Sonos 4500) after Celermajer method, and IMT after Pignoli method.

Results: In the study group we found elevated levels of sICAM-1: 309.54+/-64 vs. 277.85+/-52 ng/ml in the control group (p<00.05) and elevated level of sE-selectin: 87.81+/-35 vs. 66.21+/-22 ng/ml (p<00.05). We found significantly impaired FMD in brachial arteries in the study group--7.51+/-4.52 vs. 12.61+/-4.65% (p<00.05) and significantly higher IMT value: 0.51+/-0.07 vs. 0.42+/-0.05 mm (p<00.001). Correlation analysis revealed a significant negative correlation between sE-selectin and FMD - r=-0.33 (p=0.004), and a positive correlation between E-selectin and IMT: r=0.32 (p=0.005).

Conclusions: 1. In children and adolescents with diabetes type 1 we found elevated levels of adhesion molecules sICAM-1 and sE-selectin, what can confirm an endothelial dysfunction in these patients. 2. Significant negative correlation between sE-selectin level and FMD, and positive correlation between sE-selectin and IMT were found. 3. Biophysical proof of this damage is impaired brachial artery dilatation--FMD, and increased IMT values provide information about structural changes in the vessels.

We present a case of a 16-year-old girl who attended Endocrinology Clinic in Kraków. Her main complains were amenorrhea and lack of pubic and axillary hair development. Breast development was normal. Based on those features, male karyotype (46, XY) as well as high levels of blood testosterone and lack of uterus on ultrasound examination allowed for establishing the diagnosis of complete androgen insensitivity syndrome. The authors emphasize the possibility of diagnosing severe disorders of sex differentiation, such as sex reversal, not earlier than in teenage patients with delayed puberty. In such cases the diagnosis can be established based on physical examination with evaluation of sexual development, basic blood hormonal tests and karyotype results. Reliable knowledge of male sex differentiation physiology is needed for their correct interpretation.

Background: Growth factors--IGF-1 and TGF-beta1 are well documented factors regulating proliferation of follicle cells of the thyroid in many experiments in vitro. It has been proved so far that IGF-1 stimulates cellular mitogenesis of thyrocytes, whereas TGF-beta1 inhibits proliferation of follicle cells of the thyroid in experimental conditions.

Objectives: The aim of the study was to evaluate the correlation between serum concentrations of IGF-1 and TGF-beta1 and the size of the thyroid in children with normal ioduria.

Material and methods: In 2002, the study was performed in 4 elementary schools chosen randomly in Białystok and in the Children's Out-patient Clinic of Endocrinology of the Specialist Regional Hospital. The study included 480 children aged 7-13 years from schools and 120 patients at the same age treated with KJ and/or thyroxine for minimum 12 months due to goiter in the Out-patient Clinic of Endocrinology. All children underwent physical examination with palpation of goiter and USG of the thyroid. Iodine concentration was assessed in the morning urine by the catalytic method of Sanedell-Kolthoff. In the second part of the examination, basing on the assessment of the thyroid size as well as the criteria of WHO from 1997 year for body surface and sex, children were divided into 2 subgroups: with goiter and the thyroid gland within the norm. Children aged 9-11 years were qualified and chosen from subgroups to further examinations. In both subgroups (with goiter and normal thyroid gland) blood samples were taken to determine concentrations of TSH, IGF-1, TGF-beta1.

Results: The mean values/median of IGF-1 concentration were statistically significantly increased in children with goiter in comparison with children with a normal thyroid (436.2 vs. 343.8 ng/ml, p=0.047). The mean values / median of TGF-beta1 concentration were statistically significantly decreased in children with goiter when compared to children with the thyroid gland within the norm (17.8 vs. 23.9 ng/ml).

Conclusions: The significantly lower concentration of TGF-beta1 in the serum of children with goiter in comparison with the values in children with normal size of the thyroid gland and a positive correlation between the concentrations of IGF-1 and the size of the thyroid (after excluding the influence of age and body surface) seem to confirm a vital role of IGF-1 and TGF-beta1 in the pathomechanism of goiter.

The aim of this study was to estimate expression of surface antigen regions of TPO (thyroid peroxidase: #1, #18, #30, #64 epitopes) on thyroid cells in 15 patients with non-toxic multinodular goiter (NTMG) and 15 patients with Graves' disease (GD). The thyrocytes were identified by indirect method: in first stage we added mouse monoclonal autoantibodies specific for TPO regions and in second stage we conjugated this complex with rabbit anti-mouse antibodies IgG (Fab')2 with FITC. All investigations were performed by flow cytometry using apparatus Coulter EPICS XL. The percentages of thyroid cells with expression of antigen regions of TPO 1, 18, 30, 64 were measured in relationship to the responsible anti-TPO concentrations: 50, 100, 200, 400, 800, 1600 microg/ml. The analysis of the expression of epitope #64 TPO revealed insignificantly increased percentages of thyroid cells in patients with GD (73% vs 45%, ns) in comparison to NTMG at anti-TPO antibody concentration of 1600 microg/ml. In addition, we observed that reduction concentration of anti-TPO antibodies leads to the decreased percentage of thyroid cells with antigen region #64 expression. In patients with GD percentage of this cells was significantly higher (48% vs 7% p<0.019, 29% vs 56% p<0.05) in compared to the percentage of thyroid cells from patients with NTMG at concentration of 200-800 microg/ml anti-TPO antibodies. Analysis of epitopes #1 and #18 shown higher percentage of thyroid cells in GD (25% vs 20%, ns for #1 epitope) and (25% vs 13%, ns for #18 epitope) in comparison to the patients with NTMG at concentration 1600 microg/ml of anti-TPO antibodies. The percentages of thyrocytes with epitopes #1 and #18 were decreased in relation to the reduction of anti-TPO concentrations. However, in all our patients epitope #30 TPO was found only in 8% thyroid cells. We conclude that in young patients thyroid immune and nonimmune diseases predispose to elevated expression of TPO epitopes (#1, #18, #64) which suggested increase stimulation and activation of thyroid cells during inflammatory reaction within thyroid gland. Furthermore, dominance expression of #64 TPO epitope in Graves' patients which recognized B domain could be a useful marker of activity of immune process in concentration between 200-800 microg/ml of TPO antibodies.

The most often cause of hormonal microsomy is a growth hormone deficit on the consequence of hypofuncion of the pituitary anterior lobe (SNP). The aim of the study was a retrospective analysis of children with SNP treated with a synthetic growth hormone (rhGH). Analyzed was the growth velocity in dependence of the dose and developmental period of the patients. Additional analyzed was the influence of the relative body mass (BMI) index and the degree of growth hormone deficit on the result of the therapy with the recombined growth hormone. Analyzed was also the maturity of the bone age during the therapy with growth hormone. A statistical analysis was performed of the influence of the particular parameters on the growth velocity of the investigated patients on support on the one - or multifunctional variant analysis MANOVA. Observed was, that the growth velocity was the highest in children treated with the highest dose of growth hormone. A dependence between the degree of growth hormone deficit and the growth velocity during the therapy with growth hormone was not evidenced. Not shown was also difference in the growth velocity in dependence on the body mass index. Bone age after the therapy during the three years do not achieve the calendar age in the investigated children. The comparison of the therapeutic results in children in a different phase of maturity shows that the best growth velocity was achieved in children in whom the therapy was started before the age of six years. Therefore the beginning of the therapy with growth hormone was recommended at the earliest. The performed examination evidenced also, that children treated with present doses of growth hormone do not attain the provided height, therefore necessary is a further optimalisation of the therapy of SNP with higher doses of rhGH.

Cardiovascular diseases are the cause of the highest mortality in Poland. In children and adolescents with type 1 diabetes mellitus there is a significant increase of risk of hypertension, cardiovascular diseases and atherosclerosis later in life. It is important to identify risk factors early in this group. There is a need to undertake appropriate preventive and therapeutic measures already in early childhood in order to avoid these disorders.

The authors present a 12-year-old girl who was seen in the out-patient Endocrinology Clinic, University Children's Hospital of Cracow, with the preliminary diagnosis of androgen insensitivity syndrome, presenting with progressing virilisation, breast underdevelopment and dysmorphy. Pubarche was normal. Gynecological examination revealed ambiguous external genitalia. On ultrasound examination homo genic gonad-like structures without follicles were seen, but no uterus was present. Basic hormonal studies indicated hypogonadotropic hypogonadism. The child was diagnosed as partial gonadal dysgenesis 46, XY. A gonadectomy was performed due to the 30-40% risk of gonadoblastoma development characteristic for such cases, and estrogen substitution followed after the surgery. The authors stress the necessity of including partial gonadal dysgenesis and partial androgen insensitivity syndrome in the differential diagnosis of delayed puberty. In both the above mentioned syndromes the clinical features are similar but the management differs. The authors stress the importance of establishing the cause of the condition and further management prior to discharging the neonate. The ultimate sex must allow the patient to best fulfill his/her psychosocial role in society and reduce the psychological trauma.