Elżbieta Sowińska-Przepiera

Association between serum osteocalcin, adiposity and metabolic risk in obese children and adolescents

INTRODUCTION Childhood obesity has been associated with the development of insulin resistance, potentially leading to several metabolic disorders. Osteocalcin has been reported to contribute to the regulation of glucose tolerance and insulin sensitivity. The purpose of this study was to examine the relationship between serum osteocalcin and metabolic risk factors in obese children and adolescents. MATERIAL AND METHODS Age, gender, pubertal stage, adiposity markers (standard deviation score of body mass index: BMI-SDS, percentage of body fat, waist circumference), blood pressure, serum osteocalcin (OC), fasting plasma glucose and insulin, glycated haemoglobin level (HbA1c), insulin resistance estimated by homeostasis model assessment (HOMA-IR), lipid profile, C-reactive protein (CRP), fibrinogen (FB), white blood cell count (WBC) and 25-hydroxyvitamin D (25-OH-D) were evaluated in 142 obese children and adolescents. Stepwise multiple regression analysis was used to determine the relationship between serum osteocalcin and metabolic risk parameters. RESULTS Mean serum osteocalcin level was 72.0 ± 20.5 μg/L (range: 16.8-181.5 µg/L). After adjustment for multiple potential confounders, serum osteocalcin concentration was inversely associated with adiposity markers as well as HOMA-IR, HbA1c, triglycerides, CRP, FB and positively with 25-OH-D and HDL-cholesterol. In stepwise multiple linear regression analysis adjusted for age, gender and pubertal stage, osteocalcin was significantly negatively related to HOMA-IR, triglycerides and waist circumference. CONCLUSIONS Serum osteocalcin concentration is associated with blood markers of dysmetabolic phenotype and measures of adiposity, suggesting that osteocalcin is important not only for bones but also for glucose and fat metabolism as early as during childhood.

Case report: rare case of infiltration of small lymphocytic B-cell lymphoma in the thyroid gland of female patient with B-cell chronic lymphocytic leukemia (CLL-B/SLL-B)

The article presents a case of 57-year-old woman with the infiltration of rare small lymphocytic B cell lymphoma in the thyroid gland. Initially, the patient was followed-up due to chronic lymphocytic B-cell leukemia diagnosed on the basis of histopathological examination of cervical lymph node. Eight months later, general symptoms occurred along with lymphocytosis and exacerbation of lesions in lymph nodes, and therefore, chemotherapy was started according to COP regimen. After four chemotherapy cycles, further progression of the disease was observed during chemotherapy. Computed tomography (CT) performed at that time showed generalized lymphadenopathy and the presence of an irregular area in left thyroid lobe. On palpation, the thyroid was asymmetrical, with enlarged left lobe and palpable lymph node packages on the left side of the neck. The levels of thyroid hormones and anti-thyroid antibodies were normal. Ultrasound examination of the thyroid gland showed non-homogeneous hypoechogenic structure of the left lobe and complete focal remodeling. Cytological examination of left-lobe lesion obtained during fine needle aspiration biopsy showed multiple small lymphoid cells, suggestive of small lymphocytic lymphoma. To confirm this diagnosis, flow cytometry of the biopsy material sampled from the left lobe was performed showing B cellimmunophenotype: CD19+/CD20+/CD22 dim/FMC-7, CD23+/CD5+, sCD79b-+, CD38-, CD10-, kappa and lambda-/weak reaction. The results of flow cytometry of the thyroid bioptate and blood were nearly identical, confirming leukemic nature of the infiltration in left thyroid lobe. Cytogenetic findings included the presence of 17p deletion (TP53 gene). The patient received immunochemotherapy with alemtuzumab. The progression of the disease occurred in the sixth week of therapy. The treatment was discontinued after 8 weeks due to worsening of patient’s general status. The patient died 15 months after the diagnosis.

PvuII and XbaI polymorphisms of estrogen receptor-α and the results of estroprogestagen therapy in girls with functional hypothalamic amenorrhea – preliminary study

Introduction The aim of this study was the long-term prospective evaluation of the effects of estroprogestagen (EP) therapy on the bone mineral density (BMD) of girls with functional hypothalamic amenorrhea (FHA) carrying various PvuII and XbaI polymorphisms of ER-α. Material and methods Prospective observation included 84 FHA girls and 50 controls. The FHA patients were subjected to 4-year sequential therapy with 17β estradiol (2 mg from the 2nd to 25th day of the menstrual cycle) and dydrogesterone (10 mg from the 16th to the 25th day). Hormonal parameters, serum concentration of the bone fraction of alkaline phosphatase (BALP), urine concentration of cross-linked n-telopeptide of type I collagen (Ntx) and BMD were determined before and after the treatment. Results Six-month treatment resulted in a marked increase in estradiol (p = 0.001), testosterone and prolactin levels (p = 0.01 both) and a significant decrease in BALP and Ntx (p = 0.001 both). Patients with the PP polymorphism had significantly lower baseline BMD compared to carriers of other polymorphic variants of PvuII (p = 0.003). A significant increase in BMD was observed throughout the entire therapy period, with no significant differences in the yearly dynamics of BMD changes observed amongst various polymorphic variants and haplotypes of ER-α. Conclusions The EP therapy is effective in the treatment of BMD disorders associated with FHA, and treatment results do not depend on PvuII and XbaI polymorphisms of ER-α.

Functional hypothalamic amenorrhoea – diagnostic challenges, monitoring, and treatment

Functional hypothalamic amenorrhoea (FHA) is associated with functional inhibition of the hypothalamic-pituitary-ovarian axis. Causes of FHA can be classified into the three groups: 1) stress-related factors, 2) consequences of weight loss and/or underweight, and 3) consequences of physical exercise or practicing sports. Diagnosis of FHA should be based on a history of menstrual disorders. During physical examination, patients with FHA present with secondary and tertiary sex characteristics specific for the pubertal stage preceding development of the condition and with the signs of hypoestrogenism. Laboratory results determine further management of patients with amenorrhea, and thus their correct interpretation is vital for making appropriate therapeutic decisions. Treatment of chronic anovulation, menstrual disorders, and secondary amenorrhea resulting from hypothalamic disorders should be aimed at the elimination of the primary cause, i.e. a decrease in psycho-emotional strain, avoidance of chronic stressors, reduction of physical exercise level, or optimisation of BMI in patients who lose weight. If menses do not resume after a period of six months or primary causative treatment is not possible, neutralisation of hypoestrogenism consequences, especially unfavourable effects on bone metabolism, become the main issue. Previous studies have shown that oestroprogestagen therapy is useful in both the treatment of menstrual disorders and normalisation of bone mineral density. Hormonal preparations should be introduced into therapeutic protocol on an individualised basis.

Cystic lesions of the sellar-suprasellar region — diagnosis and treatment

The differentiation of cystic lesions located in the sellar-suprasellar region is a significant problem in clinical practice because of the similarities in their clinical, radiological, and even histopathological picture. Arriving at the right diagnosis is vital for taking appropriate therapeutic decisions. The most frequent clinical manifestation of lesions located in the sellar-suprasellar region is headache. It often co-exists with symptoms of anterior pituitary gland insufficiency or hyperprolactinaemia caused by compression of the pituitary stalk. Diabetes insipidus, obe-sity, mental disorders, and circadian rhythm disorders may be associated with lesions penetrating the suprasellar space. It is extremely important to rule out the possible coexistence of pituitary microadenoma and Rathkes cleft cyst, which became possible with the use of ¹¹C-methionine positron emission tomography/computed tomography (C-MET PET/CT). Reports from literature indicate that pituitary microadenoma may coexist with Rathkes cleft cyst in 10% of patients. Cystic lesions of the sellar-suprasellar region should also be differentiated from a cystic pituitary adenoma or abscess. The first-choice therapy in symptomatic cystic lesions of the sellar-suprasellar region is neurosurgery, which usually relieves headache and improves vision impairment, while less frequently restores normal pituitary function. In suprasellar lesions, neurosurgery may trig-ger or aggravate pre-existing symptoms of damage to the hypothalamus. Patients undergoing neurosurgery for cystic lesions located in the sellar-suprasellar region should be monitored for a few years due to their high recurrence rate, potential malignant transformation of these lesions, and possible adenoma development through metaplasia. The advent of targeted therapy of the BRAF/MEK pathway is associated with new therapeutic opportunities for patients with craniopharyngiomas.

Association between genetic mutations and the development of autoimmune thyroiditis in patients with chronic hepatitis C treated with interferon alpha

BackgroundConsiderable progress was made by the introduction of interferon to the treatment of chronic hepatitis C virus infection. This treatment, however, is associated with the risk of developing or exacerbating autoimmune diseases, with chronic autoimmune thyroiditis being one of them. The aim of our study was to evaluate the predisposition to autoimmune thyroiditis in patients with chronic hepatitis C virus during IFN-alpha therapy, depending on the presence of polymorphisms in the promoter region of CTLA-4C (−318)T gene and in exon 1 of A49G gene as well as C1858T transition of PTPN22 gene.MethodsThe study was conducted in 149 patients aged between 18 and 70 years (mean of 43.9 years), including 82 men and 67 women. Control group for the assessment of the distribution of analyzed polymorphism of genotypes consisted of 200 neonates, from whom umbilical blood was drawn for the tests. The patients were divided into three groups: group 1 consisted of 114 patients without thyroid impairment before and during IFN-alpha therapy, group 2 contained 9 patients with AT with the onset prior to IFN-alpha treatment, and group 3 comprised 26 patients with AT starting after the beginning of IFN-alpha therapy.ResultsThe frequency of C1858Tand C(−318)T genotypes observed in the study group did not differ significantly from control group. A significant difference, however, was found for A49G polymorphism.ConclusionsNo association was demonstrated between the occurrence of autoimmune thyroiditis with the onset during IFN-alpha therapy and the presence of polymorphisms within CTLA-4 C(−318)T gene in the promoter region and A49G in exon 1, as well as C1858T transition of PTPN22 gene.

Disorders of sex development

Płeć człowieka to zespół cech somatycznych i psychicznych odróżniających kobietę od mężczyzny. Określenie płci w ujęciu biologicznym to zdolność organizmu do wytwarzania komórek rozrodczych. Płeć psychologiczna rozumiana jest jako spontaniczna gotowość do posługiwania się wymiarem płci w odniesieniu do siebie i świata [1]. W celach klinicznych i naukowych wyodrębnia się szereg kryteriów określających płeć. Wyróżnia się pojęcie płci chromosomalnej, czyli genetycznej, gonadalnej, hormonalnej, genitalnej (zewnętrznych narządów płciowych), płci metrykalnej (określanej po urodzeniu, zgodnie z wyglądem zewnętrznych narządów płciowych) i psychicznej, czyli orientację psychoseksualną. Rozwój psychoseksualStreszczenie