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

Apoptosis, programmed cell death, is a physiological phenomenon, necessary for normal function of every organism. This is an active process, per-current with a participation of the cellular metabolism embracing the activation of genes and the synthesis of proteins. The signal to apoptosis can be started practically in every cell of our organism. Disturbances of the apoptosis regulation determine the essential link of the pathogenesis of many diseases, including autoimmune thyroid disorders. Such molecules as FasL, TNF (tumor necrosis factor), TRAIL (the ligand inducing apoptosis), inducing different apoptotic pathway can play the key-role in the pathogenesis of Graves' disease or Hashimoto's thyroiditis. Besides in the destructive thyroiditis an important role is also played by proteins from the bcl-2 family and the proinflammatory cytokines. The aim of this publication is to present the influence of different factors on the apoptosis and the role of programmed cells death in autoimmune thyroid diseases.

Introduction: Discussion on the frequency of coexistent celiac disease and type 1 diabetes mellitus (DM1) as well as an attempt to standardize diagnostic methods of celiac disease detection among DM1 children have been performed.

Objectives: To assess the incidence of celiac disease among DM1 children in the Pomeranian region of Poland followed by analysis of the putative prognostic factors for celiac disease development in this particular group of children.

Materials and methods: 70 children aged 9.47+/-4.59 (group 1) de novo diagnosed with DM1 and 223 children aged 10.20+/-3.87 with long-standing diabetes mellitus type 1 (4.47+/-3.16 years from the diagnosis) were enrolled in the study. All the patients had C-peptide, HbA1c, CRP, TSH, fT4, fT3, urinary albumin secretion rate, IgA, level of antigliadin antibodies (AGA), anti-tissue transglutaminase (TGA) IgA and IgG antibodies (ELISA), anti-endomysium (EmA) IgA and IgG antibodies (immunofluorescence) and anti-tyreoglobulin antibodies (TG), anti-thyroid peroxidase (TPO) antibodies (ELISA) evaluated. All the patients had jejunal biopsy and thyroid ultrasound examination.

Results: 5.7% of group 1 patients were diagnosed with celiac disease based on the positive jejunal biopsy in comparison with 9.4% in the group 2. TGA antibodies were present in 9.52% of group 2, AGA in 7.62%, EmA in 6.19%. 10% of group 1 children had autoimmune thyroiditis versus 24.2% of group 2 children. The group of children with coincident long-lasting DM1 and celiac disease (group A) was characterized by significantly earlier age at diagnosis (p=0.003), higher HbA(1)c (p=<0.001), CRP (p<0.001) and elevated urine albumin secretion in relation to children without celiac disease and autoimmune thyroiditis (group B). Serologic test detecting TGA antibodies was found to be the most sensitive (95.2%) for the detection of celiac disease among DM1 children, while the lowest sensitivity was obtained in the case of the EmA antibody test (61.9%).

Conclusions: The celiac disease morbidity confirmed by jejunal biopsy is high among DM1 children (9.4%). The assessment of the serum TGA appears to be the most sensitive screening marker for the celiac disease detection in DM1 children.

Since 1937, when familial precocious puberty (FPP) was described for the first time, only few reports on FPP have been published. The majority of them is concerned with the most investigated form of FPP, occurring only in male --testotoxicosis (male-limited precocious puberty -- MLPP). Recently another form of FPP -- familial hyperestrogenism (aromatase excess syndrome -- AES) has been described. The authors aimed to review the literature data concerning different forms of FPP emphasizing the diagnostic criteria, etiology, mode of inheritance and treatment.

The McCune-Albright syndrome is characterised by polyostotic fibrous dysplasia, "cafe-au-lait" spots and autonomous hyperfunction of various endocrine organs. The authors present the case of a girl at the age of 6 years 9 months with precocious puberty (thelarche III, menarche). High estradiol level (204 pg/ml) and low gonadoptopins concentration as well as their level after GnRH administration suggested ovarian autonomy. Ovarian cysts were found on pelvic ultrasound. Other endocrine abnormalities were excluded. Single "cafe-au-lait" spot was found on the patient skin. Scintigraphy, radiography and computed tomography scans showed fibrous dysplastic bones in the right tibia and in maxillary and sphenoid sinuses.

Unlabelled: THE AIM of our study was to estimate the gonadotropin level after GnRH analogue injection in girls with PCOS after suppression with dexamethasone.

Material and methods: 57 girls with hirsutism, mean age 15.9 years, were involved in the study. The research was performed in the early and middle follicular stage. Menstrual disorders were observed in 78% of them. The patients were divided into 3 groups: I -- with clinical and laboratory symptoms of PCOS (menstruation disorders, testosterone >65 ng/ml and/or LH/FSH >2; n=29), II -- with menstruation disorders and without elevated androgen level (n=15), III -- without menstruation disorders and without elevated androgen level (n=13). Basal blood samples were drawn at 8 a.m. GnRH analogue (Relefact LH-RH) 100 microg was then given subcutaneously and blood samples were drawn every 4 hours for 24 hours.

Results: Basal level of LH was the highest in group I (6,18+/-4,10 IU/l) in comparison with II (5.53+/-3.40 IU/l) and III (3.82+/-2.79 IU/l). After GnRH analogue administration mean LH concentration increased in all groups and peaked after 2 hours. Stimulated LH level was the highest in group I and differed statistically significantly from group III during the whole period of the test. The most significant difference occurred at 12 a.m. (p=0.003) and 10 a.m. (p=0.004). The FSH secretion in all tested groups was similar. It peaked, like LH, after 2 hours after GnRH analogue injection and decreased slightly during next 2 hours. A marked decrease was observed in the following period of time.

Conclusions: 1. High and fast LH secretion responding to GnRH analogue indicates masculinization of the hypothalamo-pituitary axis in PCOS girls. 2. The hirsute girls without menstrual disturbances and hormonal abnormalities probably also have subtle masculinization of the pituitary response to stimulation by GnRH analogue.

Background: Sense of self-contact experienced by a child is a mental availability of the contents of self-experience. It is a possibility of identifying and expressing the contents of own feelings, experiences and conditions. Sense of self-contact is an element of a sense of identity. The sense of identity involves the contents of mental self-experiencing, sense of differentiation and sense of continuity.

Objectives: The aim of this article is an attempt to answer what is a sense of self-contact experienced by an obese child.

Material and methods: 142 children have been examined (71 obese and 71 slim) at the age from 5 to 10 years. Children Apperception Test, the version with animal figures (CAT-A) has been used to children examination. The CAT-A consists of 10 black-white pictures presenting animals in different situations, significant in view of the child's development and functioning.

Results: The specific difficulties in an experience of self-contact by an obese child were pointed out.

Conclusion: Psychotherapy should be aimed at finding internal, mental points for self-description, thus also the sense of mental self-contact and self experience in personal dimension.

Unlabelled: Genetic factors play a role in the pathogenesis of insulin resistance in obese subjects. The insulin receptor substrate-1 (IRS-1) and IRS-2 are the most important elements of the insulin-signaling pathways, and mutations in this gene have been reported to play a role in determining insulin resistance, particulary in presence of obesity. The polymorpism of the TNF-a-308 gene is also involved in the development of obesity-related insulin resistance, therefore, we investigated whether the IRS-1 and TNF-a polymorphism can predict conversion to insulin resistance and obesity parameters in children with obesity.

Material and methods: The 70 children with obesity simplex were included in this study (9-18 y.o). The antropometric investigations: weight, height, BMI, SDS for BMI, WHR, sum of 3, 10 skinfolds, and percent of body fat by Slaughter's equation was calculated. In each children after 12 hour overnight fast glucose, insulin, leptin and lipids: triglycerides (Tg), cholesterol total (Chol-T), cholesterol HDL (Chol-HDL), cholesterol LDL (Chol-LDL) were measured. The oral glucose tolerance test was performed and HOMA-IR was calculated.

Results: Two variants of genotypic IRS-1 were obtained: C/C(85.7 %), A/C(14.3%), and 3 variants of TNF-a G/G 68 % A/G 29% A/A 3%. Statistical analysis of anthropometric and biochemical variables in groups C/C, vs A/C and variables between IRS and TNF (G/G, A/G + A/A) groups was performed. We did not find any significant differences between these groups in the t-Student test. The girls heterozygous for the A allele--A/C (IRS) had higher body weight than girls who were homozygous C/C (chi(2) =3.87, Pr>chi(2)=0,048). In smaller children studies, both polymorphism--IRS and TNF seems not to be associated with the degree of obesity and insulin resistance.

Background: Growth hormone (GH) therapy has been used for children with pituitary GH deficiency. It resulted in improving their height velocity and achieving an adult height in the normal range for the general population.

Objectives: To evaluate the final height in childhood-onset growth hormone deficiency patients who had already completed treatment and were still GH deficient in adult life.

Material and methods: 21 children (12 boys and 9 girls) diagnosed as GH deficiency and treated with growth hormone to final height at doses of 0.17 mg/kg/week (0.5 IU/kg/week) subcutaneously for 7 days. There were 7 patients with isolated GHD and 14 with multiple pituitary hormone deficiencies.

Results: At the diagnosis peak serum GH concentrations were 2.8+/-2.8 mU/l in insulin tolerance test and 3.3+/-2.2 mU/l in clonidine test. Reconfirmation of the GH deficiency diagnosis after growth hormone treatment revealed a peak serum GH 1.77+/-1.2 mU/l in insulin tolerance test. Mean chronological age of the patients at the beginning of treatment was 10.29+/-3.57 years and was significantly higher in boys. Patients had completed a course of treatment in the chronological age of 17.85+/-1.97 years. Children began treatment with mean bone age 7.24+/-3.57 years and ended with 15+/-0.97 years. After the treatment a significant improvement in height was shown. Height SDS at the beginning of the treatment was -4.03+/-0.91 and -0.69+/-1.01 after the treatment. There was no difference between final height and target height (-0.54+/-0.93 SDS) in our patients.

Conclusions: Children with pituitary growth hormone deficiency who were treated with growth hormone replacement achieve a final height in the normal range for the general population and their target height.

We present a case of a 14-year-old boy in whom, at age of nine a dramatic decrease of growth velocity was observed. At the age of 14 the growth hormone therapy was introduced after the diagnosis of partial growth hormone deficiency and Crohn's disease. During the two years period of follow up increased growth velocity and improvement in the general condition was observed. We present the case because of many controversial opinions about growth hormone treatment in Crohn's disease.

Background: Turner's syndrome is one of the most frequent diseases with accompanying growth deficiency, the developmental disorders being observed as early as in the fetal period.

Objectives: To determine the body mass of Turner's syndrome newborns delivered at term.

Material and methods: A total of 474 female newborns with Turner's syndrome were studied, the pregnancies, mostly second ones, lasting 40 weeks on average but not less than 38 weeks. Turner's syndrome was confirmed by chromosome analysis. Body mass at birth (BM) was related to the norms for gestational age (GA) designed by Usher and McLean. Newborns, whose BM was lower than -2 SD for GA, were considered as small for gestational age (SGA).

Results: Mean body mass (+/-SD) at birth was 2963 +/- g and in 87% of newborns was below the normal value for gestational age. Mean body mass deficiency amounted to 611 g, but in 20% of newborns exceeded 1000 g.

Conclusion: In 19% of newborns body mass was below -2 SD for gestational age which classified intrauterine dystrophy as one of the most frequent features of the Turner's syndrome. It might, furthermore, imply that intrauterine dystrophy could be associated with impaired gene expression, presumably on the X-chromosome.