ACTA ENDOCRINOLOGICA (BUC)

Background. Type 0 glycogenosis is a genetic metabolic disorder characterized by the absence of glycogen synthesis of hepatic synthase and hence of liver glycogen stores in normal amounts. It is an extremely rare condition. Case study. This case is a 5-year and 11-monthold female child with asymptomatic severe hypoglycemia in the last two years. During the admission and afterwards, an extensive panel of paraclinical and imaging investigations was carried out to diagnose and document the case, which led to the specific genetic test. The result was positive for 2 heterozygous mutations in the GYS2 gene (hepatic glycogen synthase), the p.547C> T mutation was pathogenic (class 1) and c.465del, frameshift likely pathogenic (class 2). In order to integrate the clinical picture of patients with this condition and to establish potential correlations regarding the specific aspects with the general development and the phenotype, the oro-dental status was investigated. Conclusion. The investigations showed a positive correlation with literature data in several respects: low stature, hypoglycemia with hyperketonemia but normal plasma lactate, postprandial and contradictory hyperglycemia, delayed bone development, etc. Oro-buco-maxillary aspects showed a slight delay in the dental eruption. Dietary therapy and stricter dental care and additional prophylaxis are required.

Background. Mosaic karyotype 45,X/46,XY related mixed gonadal dysgenesis. Aim. To report a case of mosaic karyotype and petroclival meningioma. Methods. Presentation of a clinical case with comments. Results. The case of a 37-year-old woman mosaic karyotype - 45,X/46,XY, infertility, virilisation, Turner syndrome-like phenotype, primary amenorrhea, the absence of labia majora and petroclival meningioma. Concentrations of dehydroepiandrosterone sulphate (DHEAS), testosterone, luteinizing hormone (LH) and follicular stimulating hormone (FSH) were increased indicating hypergonadotropic hypogonadism. Low and high dose dexamethasone suppression tests demonstrated incomplete suppression of DHEAS concentration without connection between pulses of LH/FSH and DHEAS. Response to adrenocorticotropic hormone (ACTH) was normal. The morning/evening concentration ratio of DHEAS was very low in comparison with cortisol, ACTH and testosterone. Head magnetic resonance imaging (MRI) demonstrated petroclival meningioma without any adrenal or ovary abnormality. Menstruation started after treatment with 2 mg of estradiol. At control visit 1.5 years later she had no complaints. MRI did not demonstrate any signs of tumour progression. Conclusions. The main lesson learned from this case is that in searching the DHEAS secreting tumours one can find unusual cases with sustained high DHEAS and lack of confirmations of polycystic ovary syndrome, adrenal or ovary tumours using available ultrasound, CT and MRI.

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Context. Mealtime insulin bolus is traditionally administered before meals in children with type 1 diabetes (T1D). Controlled studies on the use of pre-and postprandial insulin bolus have shown variable results. There are no realworld studies on postprandial bolusing of insulin in young children with T1D. Methods. Children with T1D aged <7 years were grouped into preprandial (Group 1) or postprandial (Group 2) groups according to the practice of prandial insulin use. Their retrospective data on mean glycosylated hemoglobin (HbA1c), hypoglycemic events, and diabetic ketoacidosis (DKA) episodes were compared. Results. Forty-four children (mean age 4.1±1.3 years, range 2-7 years) with mean diabetes duration of 2.0±0.7 years (range, 1-4 years) were identified; 23 (52.3%) belonged to Group 1 and 21 (47.7%) to Group 2. There were no differences in the mean HbA1c levels, mean hypoglycemic events, and DKA episodes between the two groups during a mean follow-up duration of two years. Conclusion. Young children with T1D administered insulin bolus during or immediately after meals showed similar long-term glycemic control and diabetesrelated adverse event profile compared to the premeal timing of insulin bolus. Larger real-world studies are needed on flexible insulin bolus timing in young children with T1D.

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Apart from endocrine and reproductive disturbances, polycystic ovary syndrome (PCOS) clusters several cardiovascular risk factors, mainly insulin resistance, obesity and dyslipidemia. In addition, androgen excess\r\nsignificantly contributes to enhanced vascular risk. Several mediators of endothelial dysfunction have been characterized lately in patients with PCOS, emerging as independent\r\npredictors of vascular abnormalities and potentially useful biomarkers of endothelial impairment in PCOS.

Cimicifuga racemosa (CR) is widely used in the treatment of menopausal symptoms, including hormone-related affective disorders in women. Mechanistic studies suggest that unlike hormone-replacement therapy, CR does not stimulate cancerous growth.\r\nObjective: to evaluate CR safety and the antidepressant-like effects compared to estrogen treatment.\r\nMaterials and Methods: we used the forced swimming test (FST) to address the hypotheses that CR alters behavior of ovariectomized (OVX) rats in the FST and the FST-induced expression of c-fos in the rat paraventricular nucleus (PVN). After the FST, all animals were perfused, and the brains were processed for c-fos immunocytochemistry; the plasma was processed for radioimmunoassay of plasma estrogen levels.\r\nResults: OVX group animals spent significantly (P<0.05) more time struggling than CR and E2 groups. The CR and E2 groups animals spent little time in struggle time decreased. CR and E2 groups animals spent significantly (P<0.05) more time swimming than OVX group animals.\r\nConclusion: CR was demonstrated to have antidepressant effect, and establishing the safety symptoms in women in whom hormone-replacement therapy is contraindicated.

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