ACTA ENDOCRINOLOGICA (BUC)

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Individuals with male phenotypes and 46 XX karyotype appear in about 1 of 20,000 births\r\nwith clinical features varying from normal male appearance to sexual ambiguity and\r\nhermaphroditism. More than 80% of these patients present a spontaneous translocation of the\r\nSRY gene from the Y to the X chromosome in the paternal germinal cells.\r\nWe present a case of a 2 years old boy diagnosed with minor hypospadias, bifid scrotum,\r\nnormal penis and palpable gonads in the scrotum. The karyotype is 46 XX and FISH analysis\r\nreveals SRY translocation on one of the X chromosomes. Ultrasound exam does not reveal any\r\nmullerian structures and a hCG test proves the testes to be functional. A short course of\r\ntreatment with hCG is recommended in order to induce the proper development of the scotal\r\nsac. The patient will need monitoring, in order to identify the development of hypergonadic\r\nhypogonadism, which characterizes such patients in later life. This case underlines the\r\nimportance of comprehensively investigating any patient with even minor genitalia anomalies.

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.

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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.

Primary Pigmented Micronodular Adrenal Disease is a rare cause of Cushing’s syndrome, typically observed in children and young adults. It is often associated with the Carney complex. A typical, subclinical, or cyclic Cushing's syndrome clinic can be seen clinically. Treatment options include bilateral-unilateral adrenalectomy or medical treatment. This case presentation aims to draw attention to a rare condition by presenting a patient diagnosed with isolated PPNAD unrelated to the Carney complex.

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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.

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.