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46,XY differences and/or disorders of sex development (DSD) are clinically and genetically heterogeneous conditions. Although complete androgen insensitivity syndrome has a strong genotype–phenotype correlation, the other types of 46,XY DSD are less well defined, and thus, the precise diagnosis is challenging. This study focused on comparing the relationship between clinical assessment and genetic findings in a cohort of well-phenotyped patients with 46,XY DSD. The study was an analysis of clinical investigations followed by genetic testing performed on 35 patients presenting to a single center. The clinical assessment included external masculinization score (EMS), endocrine profiling and radiological evaluation. Array-comparative genomic hybridization (array-CGH) and sequencing of DSD-related genes were performed. Using an integrated approach, reaching the definitive diagnosis was possible in 12 children. The correlation between clinical and genetic findings was higher in patients with a more severe phenotype (median EMS 2.5 vs 6; P = 0.04). However, in 13 children, at least one variant of uncertain significance was identified, and most times this variant did not correspond to the original clinical diagnosis. In three patients, the genetic studies guided further clinical assessment which resulted in a reclassification of initial clinical diagnosis. Furthermore, we identified eight patients harboring variants in more than one DSD genes, which was not seen in controls (2.5%; P = 0.0003). In summary, taking into account potential challenges in reaching the definitive diagnosis in 46,XY DSD, only integrated approach seems to be the best routine practice.

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Toxocara spp. infestations present with a wide spectrum of symptoms, from general inflammation of internal organs with eosinophilic granuloma formulation through ocular or brain involvement. There is also an asymptomatic form. The known factors that influence the clinical form of the disease are the intensity of the infestation, the localization of the larvae, the age of the patient, the efficiency of the immune system and the history of reinfection. The aim of our study was to evaluate the production of interleukins 4 (IL-4) and 10 (IL-10) in children in the course of Toxocara spp. infections with hepatic involvement. The analysis of peripheral leucocytes, eosinophils, immunoglobulin E, and IL-4 and IL-10 concentrations presented significantly higher values in children with radiologically confirmed liver granuloma than in uncomplicated hepatomegaly. Based on statistical analysis, we confirmed the IL-4/IL-10 ratio variation in the analysed groups: patients with liver lesions showed a ratio of <1, while children without granulomas had a ratio of >2. The relevant analysis confirmed a positive statistical correlation in both seropositive groups for IgE and IL-4, and only in the granuloma group for IgE and IL-10.

Aim of the studyDeregulation of insulin-like growth factor I (IGF-I) production and decreased hepatic estrogen levels were associated with development of hepatocellular carcinoma (HCC) in hepatitis C virus (HCV) infected cirrhotic patients. The aim of our study was to determine serum levels of IGF-I, insulin and 17-β estradiol (17-βE) in relation to other markers of liver injury in chronic hepatitis C (CHC) patients.Material and methodsThirty anti-viral treatment-naïve CHC patients and 10 healthy subjects were examined. HCV infection was confirmed by presence of anti-HCV and HCV-RNA in serum. Serum levels of IGF-I, insulin and of 17-βE were evaluated using ELISA methods.ResultsSerum levels of IGF-I and 17-βE were significantly lower in CHC patients than in controls while insulin levels were similar in both groups. A lower IGF-I level (but not the level of 17-βE) was observed in cirrhotic CHC patients in comparison to non-cirrhotic ones. Decreased serum level of IGF-I was associated with more advanced staging and liver steatosis, higher levels of alpha-fetoprotein (AFP) and gamma globulin levels, and higher aspartate transaminase (AST) activity in CHC patients. Insulin and 17-βE levels positively correlated with patient's age. A positive correlation was observed between insulin level on one hand and staging, liver steatosis and levels of gamma globulins in CHC patients on the other. A negative correlation between IGF-I and insulin levels was noted only in HCV infected patients.ConclusionsDecreased IGF-I levels and increased levels of insulin better than estradiol serum levels characterize staging and liver steatosis in CHC patients. The lower serum level of 17-βE in the CHC group than in control patients suggests that CHC patients carry higher risk of liver injury and of HCC development.

Diabetes insipidus (DI) of central origin is caused by decreased or absent secretion of antidiuretic hormone. Neurogenic DI results from: brain tumors, neurosurgical interventions, congenital organic lesions, genetic defects, trauma, inflammatory or infiltrative processes. We describe a 19-year-old boy with a central DI caused by a sellar-suprasellar tumor. Based on characteristic history (4 years of polydipsia and polyuria), biochemical tests and imaging studies, DI was diagnosed in this boy at the age of 15 years. On his first MRI examination nodular thickening within the pituitary stalk was observed and treatment with desmopressin was started. After 4 months, MRI revealed a large tumor within a sellarsuprasellar region. Based on the characteristic localization of the tumor and increased serum concentration of biomarkers [human choriongonadotropin β (β-hCG) and alpha fetoprotein (AFP)] germ cell secreting tumor was diagnosed. The boy underwent chemo-and radiotherapy with a good outcome. Currently, at the age of 19 years, he is in remission. This patient is an example of diagnostic difficulties in case of DI, which can be caused by developing germ cell tumor. In each case of DI it is strongly advised to perform imaging studies (MRI) and repeat them when any abnormalities are found.K Ke ey y w wo or rd ds s: : diabetes insipidus, sellarsuprasellar tumor, pituitary gland, neoplasm.

Declarations Ethics approval and consent to participate Not applicable Consent for publication Not applicable Availability of data and materials Not applicable Competing interests The author declares no conflict of interests. Funding Not applicable Peer review This short paper underwent the journal's standard peer review process for supplements.