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

Both diabetes mellitus and hypertension are major risk factors for cardiovascular, renal and atherosclerotic vascular disease. Hypertension is known to be more common in patients with diabetes than in the general population. Patients with diabetes mellitus are at high risk for renal injury, which may be exacerbated by abnormalities in circadian blood pressure pattern. Ambulatory blood pressure monitoring (ABPM) permits the observation of blood pressure throughout day and night in a non-medical environment, and to quantify the circadian blood pressure variability. Recent studies with the use of ambulatory blood pressure monitoring have shown that the physiological nocturnal fall in blood pressure is blunted or absent in some individuals with type 1 diabetes who are completely normotensive by conventional criteria. Patients with type 1 diabetes and microalbuminuria have higher nocturnal blood pressure than either patients with type 1 diabetes and normal albumin excretion or age-matched controls. Moreover, changes in the circadian pattern of blood pressure in patients with type 1 diabetes may predict the development of albuminuria.

Unlabelled: The aim of our study was to estimate the adrenal function in hirsute girls.

Material and methods: 57 girls with hirsutism aged from 12 to 19 years, mean age 15.95 years, were involved into the study. The research was performed in early and middle follicular stage. Menstrual disorders were observed in 78% of them. Hirsutism was estimated with Ferriman-Gallwey scale (mean value 13+/-1.58), mean BMI was 22.7. The patients were divided into 3 groups: group 1 with clinical and laboratory symptoms of PCOS, n=29; group 2 with menstrual disorders and without elevated androgen level, n=15; group 3 without menstrual disorders and without elevated androgen level, n=13.

Results: 17OHP level was the highest in group I (1.17+/-0.58 ng/ml). Diurnal cortisol profile was regular in all patients. After Synacthen injection cortisol level rose in all groups to the similar values at 60 min. The same stimuli induced intensive 17OHP secretion in group 1 (2.42+/-2.02 ng/ml) at 30 min statistically higher than in group 2 (1.46+/-0.95 ng/ml), (p=0.045). None had 21-hydroxysase defect. There were positive correlation between levels of 17OHP and LH (r=0.38), 17OHP and T (r=0.39), 17OHP and LH/FSH (r=0.40) CONCLUSIONS: 17OHP level in patients with PCOS is significantly higher then in other hirsute girls. High 17OHP and normal cortisol level after Synacthen administration in PCOS girls point that activity of enzymes involved in 17OHP production is augmented.

Ghrelin, a novel 28 amino acid peptide, is the endogenous ligand for the growth hormone secretagogue receptor. The stomach is the primary source of circulating ghrelin, but it is also produced by the intestines, kidneys, hypothalamus, pituitary, placenta and pancreas. Ghrelin has been recognized as an important regulator of GH secretion and have important roles in energy homeostasis, glucose and lipid metabolism, reproduction, cardiovascular function, and immunity. Ghrelin has been shown to have a physiological role in the control of food intake, acting as an orexigenic hormone, probably by stimulating NPY production in contrast to the actions of leptin.

We present a case of a 16-year-old boy with gynecomastia and symptoms of delayed puberty (relatively small testes and penis), who attended the Endocrinology Clinic. Pubic hair development was normal. Basic hormonal blood tests showed a primary testicular lesion (hypergonadotropic hypogonadism). The result of karyotype examination showed female karyotype 46, XX. Based on those results the boy was diagnosed to be 46, XX male. A replacement testosterone therapy was administered. He stays in follow-up for gonad observation. The authors emphasize the possibility of establishing the diagnosis of a severe disorder belonging to the group of inappropriate sex differentiation of sex reversal type not earlier than in teenage adolescents, who present symptoms of delayed puberty. In such cases the main rule in establishing a final diagnosis is played by a physical examination with evaluation of sex development, as well as basic hormonal blood tests and karyotype result. Their correct interpretation is possible only by a physician who has reliable knowledge of the physiology of male sex determination.

Background: Autoreactive T lymphocytes participate in the development of type 1 diabetes mellitus. The migration of T cells is initiated by increased expression of L-selectin on the cellular membrane of lymphocyte. Recently, a correlation between the concentration of sL-selectin and the develop-ment of diabetic retinopathy, atherosclerosis and arterial hypertension was stated.

Objectives: The purpose of this study was to evaluate whether the expression of L-selectin on lymphocytes T alters in the course of the disease -- diabetes lasting less than 5 years and over 5 years; to assess a relationship between the percentage of L-selectin on T cells and the evolution of vascular complications; to elucidate whether the percentage of peripheral blood T lymphocytes expressing L-selectin could be an early marker of angiopathy in juvenile patients.

Material and methods: The study was carried out on 60 children and adolescents (aged 9-20) with diagnosed type 1 diabetes: a) (20 n) with the disease lasting <5 years, b) (20 n) with type 1 diabetes lasting >5 years without vascular complications, c) (20 n) with type 1 diabetes and vascular complications (microalbuminuria, arterial hypertension, diabetic retinopathy). The control group consisted of 20 healthy volunteers (aged 6-17). The expression of adhesion molecules has been evaluated by using three-color flow cytometry (Coulter EPICS XL). HbA1c concentration has been analysed by a liquid chromatography technique HPLC-Variant (Bio-Rad).

Results: The percentage of T lymphocytes expressing L-selectin was significantly increased in all groups of patients with type 1 diabetes versus healthy controls (p<0.005 and p<0.001, in groups without complications and with angiopathy, respectively). Moreover in patients with diagnosed arterial hypertension the percentage of T lymphocytes expressing L-selectin was higher than in patients in whom arterial hypertension was not developed (p<0.05).

Conclusions: In juvenile patients with type 1 diabetes the percentage of T lymphocytes expressing L-selectin was increased independently on the du-ration of the disease. In children with type 1 diabetes and diagnosed vascular complications the highest percentage of T lymphocytes expressing L-selectin was found.

Background: A literature review indicates that the prevalence of cardiovascular malformations in patients with Turner syndrome ranges from 17 to 47 percent.

Objectives: The aim of the study was to evaluate the cardiovascular system in patients with Turner syndrome, controlled by the Pediatric Endocrinology Clinic of the Medical University of Gdansk.

Material and methods: The study included 55 females with Turner syndrome aged 3-20 years (mean age 9.6 years). The procedure included an interview, subject examination, chest X-rays and echocardiography. The echocardiography included M-mode measurements, two-dimensional evaluations from all standard planes, pulsed and continuous wave Doppler as well as color flow mapping. In selected cases, cardiologic examination embraced also cardiac catheterization, cineangiography and continuous 24-hour blood pressure measurement.

Results: Cardiovascular malformations were found in 18 out of 55 females (32.7%). Aortic coarctation was detected in 9 out of 18 patients (50%), bicuspid aortic valve in 33%, and aortic insufficiency in 22% of them. 78% of Turner subjects with cardiovascular malformations had monosomy (45,X). All females, except one, with aortic coarctation, had a 45,X karyotype. One aortic coarctation was diagnosed during prenatal examination. Before the last medical examination, 9 females had undergone a surgical treatment. In one case, the surgical treatment was preceded by a balloon angioplasty. Due to a recoarctation, one female was submitted to an additional balloon angioplasty. One female died during the post surgical period suffering from aortic wall injury. In four cases, despite successful surgeries, there still remains an arterial hypertension requiring pharmacological treatment. In 4 out of 18 cases (22%) isolated aortic valves defects were diagnosed, however, at present time they do not require any surgical treatment. In three cases, echocardiographic examination indicated a persistent left superior vena cava and aneurysm atrial septal defect with an intact septum.

Conclusions: Due to a high prevalence of cardiovascular malformations, girls with Turner syndrome should be monitored by a pediatric cardiologist. In each case, female with Turner syndrome should be submitted to echocardiography. Also a careful control of the blood pressure is indicated.

Background: The most important complication in the course of diabetes mellitus type I is diabetic nephropathy. Nowadays, apart from assessing the increased amount of albumins in urine, we are not able to identify early enough these patients whose health might be endangered by nephropathy. Looking for other biochemical indicators which could mark the early symptoms of kidney damage/renal malfunction seems to be justified.

Objectives: 1. What is the concentration of cystatin C among children and teenagers suffering from diabetes mellitus type 1 and whether its level depends on the age of patient, the age in which the patient was affected with the disease, the length of the disease, metabolic compensation, diabetes control and the presence of microangiopathy? 2. Is there any interdependence between cystatin C and microalbuminuria and the renal efficiency rates?

Material: Study group. A group of 130 patients (60 girls and 70 boys aged from 7 and 20,8) who have been suffering from juvenile diabetes from 1 to 17 years was examined. The control group were healthy youngsters, matched for age and sex, without any /burdening/ medical history.

Methods: All the patients were examined in the following way: anthropometric measurements were taken, BMI in kg/m2 was defined, metabolic compensation based on HbA1c (%) was estimated. Ophthalmological examination and a circadian monitoring of arterial blood pressure were carried out. Microalbuminuria in a 24-hour urine collection was determined. In both groups glomerular filtration rate with the help of endogenous creatinine clearance and the concentration of cystatin C were evaluated. The results were subject to statistical analysis.

Results: The average age of the whole examined group was 15+/-3,0 the average disease length 6,85+/-3,36 years. The concentration of cystatin C among diabetic patients was higher in comparison with the control group (0.75+/-0.13 vs. 0.68+/-0.12 mg/l). It was also discovered that the concentration of cystatin C was increasing along with the length of the disease reaching the highest level in the group of patients suffering from this disease longer than 10 years (0.52+/-0.11 vs. 0.67+/-0.13 vs. 0.93+/-0.13 mg/l), which is again statistically significant. Moreover the concentration of cystatin C is higher among patients with insufficient diabetes control (0.765+/-0.12 mg/l vs. 0.71+/-0.12 pg/ml, p<0.05). These patients who additionally developed vascular complications (retinopathy, nephropathy, arterial hypertension) had significantly higher condensation of cystatin C (0.75+/-0.13 vs. 0.69+/-0.11 mg/l, p<0.05).

Discussion: Having considered the initial results, the following conclusion can be reached: only further, long-term research can supply us with the reliable data whether assessing the level of cystatin C concentration in children's and teenagers' ser

Background: Currently continuous subcutaneous insulin infusion (CSII) as a method of functional intensive insulin therapy is the most physiological way to administer insulin. In recent years treatment with insulin pumps has been used more frequently in the paediatric diabetes whereas application of this kind of therapy is relatively new in the youngest group of children below the age of 10 years. THE AIM of the study was to assess the efficiency of CSII by means of insulin pumps in prepubertal children with type 1 diabetes mellitus (T1DM).

Materials and methods: Three groups of T1DM children on intensive insulin therapy were compared. Group 1 comprised 30 children with CSII in the mean age 6.7+/-2.2 SD years (CSII-1). In group 2 were 25 children treated with multiple injections (MI-1) in the mean age 7.0+/-1.5 SD years and in group 3-35 children in the mean age 13.9+/-2.1 SD years treated with CSII (group CSII-2). The age of children was comparable in group CSII-1 and MI-1. T1DM duration was the same for all groups. After 6, 12, 18 months the following parameters were analyzed: HbA1c, daily insulin requirement (DIR) U/kg, number of severe hypoglycemic episodes and diabetic ketoacidosis (DKA).

Results: After 18 months in CSII-1 HbA1c decreased insignificantly from 7.1% to 6.9% and DIR was significantly reduced from 0.86 U/kg/24 h to 0.7 U/kg/24 h (after 6 months) and to 0,75 U/kg/24 h (after 12 months) and 0.77 U/kg/24 h after 18 months. In the MI-1 group HbA1c increased significantly from 7.0% to 7.4% in the 6th month and to 7.3% in the 18th month. DIR increased significantly from 0.68 U/kg/24 h to 0.76 U/kg/24 h; 0,8 U/kg/24 h and 0.84 U/kg/24 h after 6, 12, and 18 months respectively. There were no significant differences in HbA1c and DIR values in CSII-2 group after 18 months of observation. Significant difference of DIR was found in: CSII-1 vs. MI-1 and CSII-2 (p<0.05) in all study points. The highest number of severe hypoglycemic episodes and DKA was found in the MI-1 group.

Conclusion: CSII in T1DM children under 10 yrs of age provides good metabolic control, is associated with reduced insulin requirement and its safety is comparable to the older children treated with the same modality.

CD28 and CTLA-4 are glycoprotein molecules providing the potent costimulatory signal for T cells activation and proliferation via interactions with their ligands B7/BB1 molecule, present on the surface of Ag-presenting cells (APC). The present study was performed to elucidate the relationship between CTLA-4/CD28 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 CTLA-4 (cytolitic T lymphocyte associated antigen-4, CD152), CD28, B7.1 (CD80) and CD7.2 (CD86) molecules on peripheral blood cells in patients with Graves' disease (GD) (n=28, mean age 15.4), in patients with nontoxic nodular goiter (NTNG) (n=28, mean age 15.6 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 was 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 was measured by a highly sensitive commercial radioimmunoassay. In untreated Graves' patients we observed a significant increase of CD152+ (p<0.004, p<0.004, p<0.001) and CD28+ (p<0.02, p<0.02, p<0.02) T lymphocytes in comparison to the non-toxic nodular goiter patients, healthy control subjects and euthyroid Graves' patients. After 2-6 months of methimazole therapy, the percentages of these cells in the peripheral blood of hyperthyroid patients returned to normal values. The analysis of CD3+ T lymphocytes co-expressing CD152 and CD28 antigens on peripheral blood revealed increased percentages of CTLA-4/CD28 positive cells in patients with Graves' disease (p<0.004, p<0.04) compared to the controls and euthyroid Graves' patients, while B7.1 (CD80) and B7.2 (CD86) molecules were detected only 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 CD152+ T cells and serum level of stimulating and blocking antibodies to the TSH-receptor was found, while no such correlation was detected in relation to CD28+ 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 an autoimmune process in children and adolescents with Graves' disease and that their levels are modulated by thyroestatic treatment.

The problem of intracranial calcifications in children has not been widely discussed in the literature yet. The aim of this study is to emphasise different clinical aspects of intracranial calcifications found in subcortical nuclei and cerebellum in children with disturbed calcium metabolism. We report three different cases of hypoparathyroidism in children in whom similar radiological changes on computed tomography (CT) of the brain were found. An 11-year-old boy was referred to us after episode of tetany. We confirmed the diagnosis of idiopatic hypoparathyroidism (presence of Chvostek and Trousseau signs, hypocalcemia, hyperphosphatemia, low parathormone serum concentration). On brain CT small, symmetric calcifications in the subcortical nuclei and frontal lobes were imaged. A diagnosis of pseudohypoparathyroidism type Ib in 10-year-old girl was established on the basis of clinical symptoms (syncope with seizures, recurrent carpopedal spasms in the past) and laboratory investigations (hypocalcemia, hyperphosphatemia, high parathormone serum concentration). In 11-year-old girl autoimmune polyglandular syndrome type I was diagnosed (hypoparathyroidism with chronic mucocutaneous candidiasis and nail dystrophy from the age of 2). CT of the brain showed multiple irregular symmetric calcifications in cerebellar hemispheres, internal capsula and subcortical nuclei on the border of white and grey matter in both frontal lobes.