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

The authors described two women in whom at the age of 14 and 15 diagnosed was gigantomasty and a hypersensitivity of the estrogen receptor. In both the patients at that time a significant increase of the estrogen and progesterone receptors in the breast glandular tissue was ascertained. The immunohistochemical investigation shows a significant higher sensitivity of the progesterone and estrogen receptors. In both the girls observed was gigantomasty with hyperlordosis, deformities of the chest and back, skin changes, orthopnoe. In both the patients a total mastectomy was performed. Both the girls had after surgery a normal menstruation, were married with normal sexual activity. One of the patients had a normal delivery two years ago.

Background: The evaluation criteria of the enlarged thyroid gland becomes a key problem when analyzing the prevalence of goiter in the population of school children. The review of the literature and own experience indicate lack of a consensus concerning this problem among researchers. Similarly, in the report of WHO in the year 2001 concerning the problem of iodine deficit and goiter endemia, experts did not present universal referential values of the thyroid size in ultrasonography for children population aged 6-15 years living in the regions of proper iodine supply in the diet, thus suggesting the necessity of working out regional norms.

Objectives: The aim of the study was to evaluate the prevalence of goiter in children aged 6-13 years from schools chosen randomly in Białystok with proper iodine supplementation in the study population and to estimate the usability of referential values applied in the assessment of the thyroid size.

Material and methods: In the year 2002, the examination was carried out in 4 elementary schools chosen randomly from Białystok. A total of 480 children aged 6-13 years were included in the study. All children were examined physically with palpation assessment of the thyroid size and had USG of the thyroid. The concentration of iodine was measured in the morning urine. The blood samples were collected to determine hTSH concentration.

Results: In palpation, with regard to WHO criteria of the year 2001, the prevalence of goiter was 6.8% in the study population. Applying WHO criteria of 1994 in palpation assessment of goiter increased this percentage up to 18.2%. When using WHO criteria for body surface of 1997 to evaluate goiter by USG, its percentage equaled 7%, whereas taking into consideration referential values for child's age doubled its percentage up to 13.5%. The percentage of goiter increased up to 45.5%, when referential values introduced by Gutekunst et al. were applied.

Conclusions: When evaluating the thyroid size in ultrasonographic diagnostics of goiter in children aged 6-13 years, it seems more purposeful to apply referential values of the thyroid size regarding the body surface and sex (manifesting a child's actual physical development) than to use the norms concerning the calendar age. The prevalence of goiter amounting 7% in the population of school children in spite of adequate iodine prophylaxis suggests other than iodine deficit, factors causing goiter in this population.

We present a case of a 16-year-old girl, who attended the Endocrinology Outpatient Clinic of the University Paediatric Hospital in Kraków, because of lack of breast development and primary amenorrhea. Pubic hair development was normal. Baseline hormonal blood tests indicated a primary gonadal lesion (hypergonadotropic hypogonadism). Ultrasonography examination revealed bilateral streak gonads in ovarian localisation. Uterus was present. The karyotype was male: 46, XY. Gonadectomy was performed due to risk of gonadoblastoma development in streak gonads. Based on the histology of the removed gonads the final diagnosis of complete gonadal dysgenesis 46, XY was established. After the gonadectomy hormonal replacement therapy was introduced. Authors emphasise the importance of considering in each case of delayed puberty in teenage girls the possibility of complete gonad dysgenesis 46, XY. The diagnosis can be established only on the support of a reliable knowledge of male sex differentiation physiology.

Background: Improved methods of diabetes therapy result in a near normoglycaemic state in many patients. This leads however unfortunately to more frequent hypoglycaemic incidents. Particularly small children, whose nervous system is not fully mature, are at high risk of central nervous system damage in case of hypoglycaemia. A new method of detail monitoring of glycaemia provides CGMS system.

Objectives: The aim of the study was to compare the glycaemic profile, with high attention to hypoglycaemia in groups of young and older children with diabetes type 1, using CGMS and routine glucose meter.

Material and methods: We studied 32 children with diabetes type 1. Children were divided into groups: group I--small children, n=17 (<7 yrs of age), mean age 5,8 years, with disease duration--2,46 years, with mean HbA1c level--7,22%, and group II--older children, n=15 (>10 years of age), mean age--12 years, with disease duration--3 years, with HbA1c level--7,21%. Continuous glucose monitoring system (CGMS), by MiniMed, was applied in outpatient or hospital conditions, after short training of patient and parents; together with routine glucose meter measurements, 4-8 times/24 hours. In 9 patients from small children group CGMS was repeated after 2 months.

Results: Hypoglycaemic incidents detected with CGMS were similar in both groups: 4,6 in I group vs. 4,2 in II group (ns). Hypoglycaemic incidents found with meter were lower in I group--1,6 vs. 2,3 in II group (ns). Mean hypoglycaemic time/24 hour was longer in small children group: 101 min vs. 74 min in group II (p<00,05). In I group we found higher number of hypoglycaemic incidents during the night compared to group II--1,7 vs. 0,8 (p<00,05) and longer duration of night hypoglycaemia: in I group--56 min vs. 32 min in group II (p<00,05). Repeated CGMS study in 9 children from I group revealed decreased mean time of hypoglycaemia/24 hours from 134 min/24 h to 90 min/24 h (p<00,05) and decreased time of night hypoglycaemia from 65 min to 40 min (p<00,05), with a comparable number of hypoglycaemic incidents. Hypoglycaemic incidents found with routine meter measurements in small children were 1,6 vs. 4,6 hypoglycaemia found with CGMS (p<00,05), in the older children group routine measurement found 2,3 hypoglycaemia vs. 4,2 detected with CGMS (ns).

Conclusions: 1. CGMS can be particularly usefull in monitoring glucose profile and detecting hypoglycaemia incidents, mainly nocturnal in small children. 2. CGMS allows to verify meal dose of insulin and to decrease postprandial hyperglycaemia. 3. Modification of insulin therapy on the base of CGMS helps to decrease the time of hypoglycaemia and hyperglycemia, particularly during the night.

CD134 (OX-40) and CD137 (4-1 BB) are glycoprotein molecules provides the potent costimulatory signal for T cells activation and proliferation (to Th1 and Th2 subpopulation) via interactions with their ligands CD134L/CD137L molecule, present on the surface of Ag-presenting cells (APC). The present study was performed to elucidate the relationship between CD134/CD137 molecules and stimulating (TSAb) or blocking (TBAb) antibodies to the TSH-receptor in Graves' disease. The aim of the study was to estimate the expression of OX-40 and 4-1 BB molecules on peripheral blood cells in patients with Graves' disease (GD) (n=28, mean age 16.3 years), in patients with nontoxic nodular goiter (NTNG) (n=28, mean age 15.8 years) in comparison with sex- and age-matched healthy control subjects (n=28, mean age 15.9 years). The expression of the costimulatory molecules on mononuclear cells were analyzed by the three-color flow cytometry using a Coulter EPICS XL cytometer. Detection of stimulating and blocking antibodies to the TSH-receptor using JPO9 CHO cells in unfractionated serum were measured by a highly sensitive commercial radioimmuno assay. In untreated Graves' patients we observed a significant increase of CD134+ (p<0.001, p<0.01, p<0.04) and CD137+ (p<0.04, p<0.035, p<0.01) T lymphocytes in comparison to the healthy control subjects, non-toxic nodular goiter patients and euthyroid Graves' patients. After 6-12 months of methimazole therapy, the percentages of these cells in peripheral blood of hyperthyroid patients returned to the normal values. The analysis of CD3+ T lymphocytes co-expressing CD134 and CD137 antigens on peripheral blood revealed an increased percentages of OX-40/CD137 positive cells in patients with Graves' disease (p<0.025) compared to the controls, while CD134L (OX-40L) molecules were detected in some hyperthyroid patients on activated monocytes. In addition, 75% of children with untreated hyperthyroidism had positive TSAbs, whereas TBAbs were measured in 3 out of 7 TSAb negative patients with Graves' disease. In untreated Graves' patients a correlation between percentage of CD134+ T cells and serum level of stimulating (p<0.025) and blocking (p<0.04) antibodies to the TSH-receptor was found, while no such correlation was detected in relation to CD137+ T cells. We conclude that the changes of the expression of costimulatory molecules on peripheral blood mononuclear cells could be an important marker of activity of autoimmune process in children and adolescents with Graves' disease and that their levels are modulated by thyrostatic treatment.

We report a case of anaplastic cancer of thyroid in 14-year-old male. The diagnosis was supported on: pace of changes, clinical image, disease course, no effect of therapy, histopathological examination.

Background: Complex assessment of the development, clinical and immunological state of children born by mothers with type 1 diabetes, in the years 1998-2000.

Materials and methods: Material examined were 30 newborns, and subsequently 25 in the first, 30 children at 5-6 years of life. In newborns and in the 5-6 years the antibodies: IA-2A, IAA, ICA, anti GAD, insulin (IRI), peptide C were determined. In the first year HbA(1c), TSH, antigens HLA DQA1 and DQB1 were determined, in the 5th-6th years of life, the level of antibodies anti endomizium.

Results: Developmental anomalies in newborns were found in 6, in 3 in first and in the 5th-6th years in 4 children. Systemic infections were found in 6, hypoxia and prematurity in 12 newborns. A positive titer of anti GAD in 15, ICA in 18, IA-2A in 8, IAA in 18 newborns. In the first year of life, anti GAD in 2, in the 5-6th years in 4 children. In one child anti GAD was found during three examinations. In the case of this positive titer of antibodies, the allele DQB1*0302 was present. Allel DQB1*0302 was present in 28% of children, allele DQA1*0301 was absent. Mean levels of IRI afterbirth and in the first year of life were: 23.6 and 9.7 uIU/ml and peptide C 1.25 and 0.92 ng/ml. Mean levels of HbA(1c) in the first and 5th yrs of life were: x 6.2%, TSH 2.45 uIU/ml and 3.4 uIU/ml. Pathological values of antibodies anti endomizium were found in 4 children, biopsy of the small intestine confirmed coeliac disease. A normal body mass was seen in 9 newborns in 16 in the first, and 14 children 5-6 years of age. Deficiency in body mass was found in 2 newborns and 3 children in the first and 5-6th yrs. Macrosomia was found in 8 newborns in group I and 3 in group II. Overweight was found in 5 children in the first year and 9 in 5-6th yrs of life. None of the children have developed diabetes.

Conclusions: 1. Children of mothers with type 1 diabetes should be monitored by an outpatient clinic for diabetic patients. 2. Children of mothers with diabetes should have determined regularly immunological markers for diabetes and other autoimmunological disease.

Background: Neuropathy is one of the chronic complications of diabetes, and it is uncommon in children and adolescents. It can be recognized in a short period after the onset of diabetes and not always is connected with poor metabolic control. Hypoxia is considered as one from greatest factors diabetic neuropathy and oxygen transport to tissue partially depends on the diphosphoglycerate (2,3 DPG) concentration. As showed recent clinical studies, its concentration in children with diabetes can be abnormal.

Objectives: To assess the role of 2,3 DPG in nerve conduction velocity, as well as qualification of risk factors.

Material and methods: To study were included randomly selected 37 patients with diabetes type 1, average age 15.5+/-2.25 years, with a duration of diabetes of more than 5 years (av 9.64+/-1.95 years), treated with intensive insulin therapy (MDI and CSII), without metabolic acidosis pH - 7.35. The nerve conduction velocity was measured in the sensor and motor nerves. HbA1c and 2,3 DPG were assessed additionally.

Results: Changes in motor nerve conduction velocity were observed at 22 patients. Average value of HbA1c in the studied group was 8.22+/-1.2%, Average concentration of 2,3 DPG was 6.15+/-1.67 mmol/l (3.84-11 mmol/l), in group with nerve dysfunction was lower - 5.86+/-1.69 mmol/l vs. 6.38+/-1.67, but this difference was not statistically significant. The lower value of 2,3 DPG significantly correlated with abnormal results of electroneurography test, especially with motor and sensor nerve latency (r=-0.34, p=0.038; r=-0.4, p=0.013) but not correlated with HbA1c (r= -0,19;p= 0,25), age of patients (r=0.008; p=0.96) and diabetes duration (r=-0.16; p=0.31).

Conclusions: Nerve dysfunction is common in children with type 1 diabetes despite metabolic control and duration of diabetes. 2,3 DPG can be an independent factor of diabetes neuropathy correlated with abnormal value of the nerve conduction test.

The authors present a boy with a 46, XX/46, XY karyotype in whom true hermaphroditism was diagnosed, stressing 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.

Introduction: The increased use of human growth hormone (hGH) in numbers of children rise questions concerning the safety of GH replacement therapy (GHRT). Adverse effects of hGH treatment (pseudotumor cerebri, papilloedema, retinal changes mimicking diabetic retinopathy, neovascularization) have been reported in some papers.

Purpose: The aim of this study was to evaluate the influence of hGH therapy on the organ of vision.

Material and methods: 10 girls with Turner's syndrome aged 12-16 years (mean 13.8+/-1.69) and 20 patients with somatotropic pituitary insufficiency aged 7-18 years (mean 12.98+/-2.81) were studied. The mean duration of GHRT in patients with Turner's syndrome was 3.05+/-1.42 years (from 1 year to 5 year), in patients with somatotropic pituitary insufficiency was 2.45+/-2.32 years (from 8 months to 10 years). All patients underwent ophthalmic examination, including contrast sensitivity, direct and indirect ophthalmoscopy and fluorescein angiography.

Results: All parts of ophthalmological examination were normal. There were no abnormalities in fluorescein angiography. Contrast sensitivity was correct in all eyes.

Conclusions: There was no harmful effect of GHRT on the retina and optic nerve in young patients. The follow-up and ophthalmologic evaluation is advisable.