ACTA ENDOCRINOLOGICA (BUC)

Context. We propose that the underlying etiology of renal calcium leak is complex and involves defects in renal handling and parathyroid sensing of ambient calcium concentration in the tubular fluid and blood. Therefore, treatment of such a patient requires both decreasing the parathyroid mass and inhibiting calcium sensing receptors that are present in the parathyroid and kidney. However, a combined treatment strategy of three-gland parathyroidectomy and calcimimetic therapy has not been formally studied to date. Objective. To present a patient with renal calcium leak causing secondary hyperparathyroidism presenting as primary hyperparathyroidism. There are a two year followup period. Results. A patient with mild hypercalcemia, hypercalciuria, musculoskeletal pain, and recurrent kidney stones underwent a three gland parathyroidectomy and had persistent hypercalciuria post-operatively. She was subsequently treated with thiazide diuretic that caused dramatic decrease in hypercalciuria, but overt hypercalcemia. She was then treated with Cinacalcet with normalization of intact PTH, serum calcium and serum phosphate. Conclusion. Patients with hypercalciuria and mild hypercalcemia may have secondary hyperparathyroidism. Renal calcium leak drives hyperparathyroidism and is unresponsive to parathyroidectomy or thiazide diuretic alone. In our patient, three gland parathyroidectomy plus calcium –sensing mimetic agent, Cinacalcet, normalized serum calcium, PTH, and phosphorus. Defects in calcium sensing in the parathyroid gland and kidney might be responsible for this form of secondary hyperparathyroidism.

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Background. Glycogen synthase kinase.3β (GSK.3β) has an important role in several signaling pathway including Wnt signaling pathway. Recent evidence has shown that this pathway is involved in follicle development, ovulation and Corpus luteum formation. Aim. In this study we have investigated the effect of LiCl (as a GSK.3β inhibitor) on the ovulation and corpus luteum formation in rat. Materials and methods. Immature 23-day female rats were injected with PMSG (15 IU) to induce follicular development, followed 48h later by HCG (15IU) to induce ovulation. To inhibit GSK3β activity 250 mg/kg LiCl were administerted at the time of LiCl injection. The ovaries were removed at 1,4,8,12,24 h after LiCl treatment and prepared for histological studies. Results. Our results show that the number of preovulatory follicle in LiCl treatment rats was not increased compared with control group. The number of corpus luteum blood vessels were decreased in comparison with control group (p<0.05). Conclusions. These findings show that although LiCl does not inhibit ovulation, it disrupts blood vessel formation in the corpus luteum.

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.

Laparoscopic adrenalectomy is currently considered the gold standard for adrenal tumors up to 6 cm, and although with far less morbidity than the open alternative, when it comes to its complications we should not look away. The case concerns a 51-year old obese male that underwent left laparoscopic adrenalectomy for incidentaloma and developed pancreatic tail fistula. Without an evident pancreatic lesion during surgery and an uneventful early postoperative course the patient was discharged only to return 4 days later with respiratory symptoms and mild abdominal discomfort in the left upper quadrant. The CT scan diagnosed a left subphrenic fluid collection and left basal pneumonia, thus the patient underwent laparoscopic reintervention for drainage of the pancreatic fluid collection and received conventional antibiotherapy for pneumonia. The patient was discharged in good condition with the drainage tube in situ. The drainage tube was extracted 14 days later.

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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