ACTA ENDOCRINOLOGICA (BUC)

Aims: we wanted to check the importance of sunlight exposure and vitamin D supplementation in reverting secondary hyperparathyroidism at IIIrd age institutionalized patients.\r\nDesign: cross-sectional study of calcium and bone metabolism in a group of 123 institutionalized IIIrd age volunteers after winter period, followed by a prospective double blind placebo-controlled study of effects upon calcium and bone metabolism, serum 25OHD3, 1,25(OH)2D3 and PTH levels of daily sunlight exposure during the summer months, with or without vitamin D supplementation (2000 IU 25OH-D3 po, daily). The study was performed on volunteers from the Elderly Resting House of Copou,\r\nIasi, Romania. 25OH-D3 was measured by an inhouse RIA technique. 1,25(OH)2D3 was measured by HPLC, serum calcium by photocolorimetry, bone alkaline phosphatase by immunoenzymatic technique, whereas serum PTH and urinary deoxypyridinoline (DPD) were measured by IRMA. Data was compared using Student&#8217;s t test and correlation analysis (R2). Almost all volunteers (93.5%) had low 25OH-D3 values, but normal or even increased levels of the active hormone, 1,25(OH)2D3. High PTH was found in 41 cases (33.3%), of which three were primary hyperparathyroidism, whereas the others had low or low-normal calcium levels (secondary hyperparathyroidism). More than half of the cases had high DPD levels, suggesting high bone turnover. Bone turnover parameters were higher in females than in males (p<0.05). A positive correlation between PTH and urinary DPD was noticed (R2=0.351). We further supplemented the vitamin D intake in 42 volunteers with a daily dose of 2000 IU of 25-OHD3 for three months in the summer period, whereas other 42 volunteers received placebo (vitamin B). Normalization of 25-OHD3 levels was seen in both vitamin D and placebo-treated sun-exposed groups. A more significant increase in 25OHD3, and also of 1,25(OH)2D3 at the upper limit of normal was however observed in the vitamin D-treated group. Normalization of serum PTH, but not of turnover parameters was observed in both groups. Mild hypercalcemia and increase in serum creatinine were noticed in the vitamin D-treated group.\r\nConclusions: Secondary hyperparathyroidism might be of importance in high turnover bone loss at institutionalized IIIrd age patients. Women seem to be more at risk, possibly due to sex hormone depletion. PTH-induced 1&#945; hydroxylation in the elderly with undamaged kidney function partially compensates the paucity of vitamin D substrate, by normalizing active hormone levels. Mild sun exposure at institutionalized patients increases skin resources of vitamin D, normalizing 25OH-D3 levels and reverting secondary hyperparathyroidism. Oral vitamin D supplementation added to sunlight exposure should be done with caution, since it might be accompanied in certain patients by hypercalcemic or nephrotoxic effects at doses higher than 2000 IU/day.

We describe one case of sellar and suprasellar chordoma found in a 44 year old female, with bitemporal hemianopsia and secondary amenorrhea, submitted to transfrontal surgery and telecobaltotherapy. Chordomas are slow growing neoplasms arising from notochordal remnants of the axial skeleton. The second most common site for chordomas, after the sacrococcygeal region, is the base of the skull. Skull base chordomas commonly result in cranial nerve deficits, such as blurred vision, facial weakness and swallowing difficulty. Occasionally, chordomas localized in the hypothalamic or pituitary region may lead to pituitary stalk disjunction, pituitary insufficiency and diabetes insipidus. Studies show that early diagnosis, combined with aggressive surgical resection, offers the best chance for long-term survival. Although optimal treatment consists of wide excision with adjuvant radiotherapy, skull base chordomas are rarely amenable to complete surgical removal. Traditionally, postoperative irradiation is delivered to doses of 6000-6500 cGy; however this approach controls the chordoma only for a few years. Prognosis depends on the histological grade of the tumor, atypical chordomas showing the lowest survival rate.

Background. Idiopathic hypercalciuria is a risk factor for nephrolithiasis. Both renal stones and hypercalciuria are associated with lower bone mineral density (BMD), but the relationship between these modifications is not completely understood. Aims. To evaluate some metabolic particularities possibly related to relapsing nephrolithiasis (RN) in young male patients. Methods. We performed a crosssectional study including a group of 30 young male patients with RN and a group of 30 healthy, age and BMI (body mass index) matched controls (CTR). We evaluated calcium and phosphate metabolism, bone remodeling markers alkaline phosphatase (AP) and osteocalcin in serum and 24-hour urine samples, and lumbar and hip BMD. Results. We observed higher values of serum calcium (P<0.05) and 24 hour urinary calcium (P<0.001) in the RN group. Parathyroid hormone (PTH) and AP were also higher in the RN group (P<0.01), whereas serum 25OH-D3 was lower (P<0.01). BMD, T and Z scores were lower in the RN group in both the lumbar (P<0.01) and hip (P<0.05) regions. Conclusions. Young male patients with hypercalciuric RN have lower BMD and higher bone turnover. Higher PTH levels related to vitamin D deficiency may contribute to bone demineralization in certain cases.

We present the case of a 28 year old pregnant primiparous woman, suspected of primary hyperparathyroidism due to hypercalcemia discovered by routine calcium assessment at 30 weeks of gestation. Diagnosis was strongly suggested by elevated serum calcium (15.2 mg/dL, normal range: 8.4-10.3 mg/dL), low serum phosphorus (0.55 mg/dL, normal range: 2.5-5 mg/dL) and increased urinary hydroxyproline excretion (118 mg/24h, normal range: 10- 40 mg/24h), suggesting high bone turnover and confirmed by coexistence of high levels of parathyroid hormone (PTH, 145 pg/mL, normal range 10-65 pg/mL). Neck ultrasound identified a solid nodule of 33x58x20.5 mm situated behind the inferior pole of a normal thyroid left lobe, suggestive for a solid parathyroid tumour located within the left inferior parathyroid gland. Medical treatment with furosemide and hydration decreased serum calcium level but failed to normalize it. After a 3 day preparation for lung maturation with dexamethasone (16 mg per day), successful adenomectomy was performed under local anaesthesia, without major intraoperative or postoperative events. The few uterine contractions were easily managed with papaverine and progesterone. Calcium levels immediately returned to normal after surgery. Our patient delivered a healthy newborn at 40 weeks by caesarean section. A DXA BMD assay performed after one year showed significant bone loss of the mother at radius level (T score of - 2.6).

Adrenoleukodystrophy (ALD) is a hereditary metabolic disease X-linked (Xq28) with autosomal recessive traits, secondary to a mutation in the ABCD1 gene. The case of a boy aged 7 years and 10 months admitted for vision disturbances, muscle weakness, balance disturbances and spastic paraparesis is presented. Seventeen months prior to this admission, the child was diagnosed with acute adrenal insufficiency and was still on replacement therapy with dexamethasone and fludrocortisone. While on therapy the child presented several relapses that required treatment correction. MRI revealed cerebral atrophy lesions, which, together with the laboratory findings and clinical symptoms, conducted the diagnosis of ALD. This diagnosis was also supported by the pathogenic mutation detected in the ACBD1 gene identified in the pacient and patient?s mother and sister. The child died 8 months after the onset of neurological signs. Childhood ALD is classified as classical ALD form, the most frequent, affecting only boys aged 4 to 10 years. Family screening obliged by the identification of the homozygotes is helpful for the early therapy of heterozygotes, genetic counseling and disease prevention. The prognosis is still poor, the available treatment being hormone substitution therapy and psychological support.

Background. Adipokine secretion is influenced by various disease conditions. Purpose. We wanted to check the impact of rectal carcinoma (RC) on adipokine profile. Patients and methods. We evaluated serum leptin and adiponectin levels in 24 RC patients (12 males and 12 females) as well as in the same number of age, sex and weight-matched healthy controls. Results. Adipokines were oppositely correlated with body weight (BW) in controls and RC patients. Women had higher adipokine levels than men. Healthy controls had higher leptin (37.6.±7.8 vs. 7.9±2.6 ng/mL in women and 11.9±4.6 vs. 1.4±0.34 ng/mL in men, p=0.0016 and 0.043) and lower adiponectin levels (9.3±1.1 vs. 14.9±1.1 μg/mL in women and 7.9±0.9 vs. 11.1±0.9 μg/mL in men, p=0.012 and 0.017) than RC patients. Conclusion. Adipokine profiles of patients with RC differ from the healthy population, possibly reflecting an adaptation to the disease rather than a triggering factor. These differences may find clinical applications for the prognosis of disease evolution.

Context. State of art imaging techniques might be a useful tool to early detect the retinal vessels lesions in diabetes. Objective and design. This analytical observational study investigates the retinal microcirculation changes in type I and II diabetic patients without retinopathy using adaptive optics ophthalmoscopy (AOO) and optical coherence ophthalmoscopy angiography (OCTA). Subjects and methods. Fifty-five subjects were included in this study and were divided in three groups: type I diabetic group (n=16), type II diabetic group (n=19) and control group (n=20). An adaptive optics retinal camera was used to assess the parameters of the temporal superior retinal arterioles. Moreover, vessel density of the superficial capillary plexus across the parafoveal area was measured with OCT-A. All cases were investigated once, in a cross-sectional design. Results. Diabetic patients from both groups had a higher wall-to-lumen-ratio compared to the controls (p=0.01 and 0.01, respectively). Interestingly, no significant differences were found between the two diabetic groups (p=0.69). Moreover, the vessel density was smaller in the type I diabetic group than in the control group (p=0.001) Conclusion. AOO might be a useful tool to detect early retinal vascular changes in diabetes before any clinical signs and together with OCTA it might bring important information on the prognostic and pathophysiology of the disease.

Purpose. To correlate the volume of parathyroid adenomas with the hormonal and metabolic profile at patients diagnosed with primary hyperparathyroidism (pHPTH). Patients and Methods. Cross-sectional multicentric study, enrolling 52 patients with pHPTH from two medical institutions. Serum calcium and PTH were evaluated in all patients before surgery, whereas 25OHD3 was measured only in the 33 patients recruited form one medical unit. The volume of parathyroid adenoma was measured by using the formula of a rotating ellipsoid. Results. We observed a significant correlation of the volume of parathyroid adenomas with PTH at patients from the two units and in the whole group (p < 0.0001), but not with serum calcium (p = 0.494). Twenty-five out of the 33 patients at whom 25OHD3 was measured had levels in the range of deficiency. 25OHD3 was not correlated with PTH or calcium levels, but was negatively correlated to the adenoma volume and positively to the PTH/volume ratio (p = 0.041 and p = 0.048, respectively). Conclusions. The volume of parathyroid adenoma seems to be related to preoperative PTH and 25OHD3, but not to calcium level. Vitamin D deficiency is frequently found at patients with pHPTH and may contribute to particular disease profiles, including larger parathyroid adenomas.

Prader Willi syndrome is a complex disease caused by the lack of expression of paternally inherited imprinted genes on chromosome 15q11.2-q13. Typical clinical features are hypotonia and feeding difficulties in infancy, followed by hyperphagia and progressive obesity, distinctive dysmorphic features, intellectual disability and behavioural problems. In this paper we present clinical, metabolic and endocrine aspects in five genetically confirmed patients with PWS. Data about thyroid dysfunction, GH deficiency, adrenal insufficiency, and LH/FSH disorder caused by hypothalamic dysfunction in PWS were collected and analyzed. Cardiovascular metabolic profile was also assessed, based on plasma lipids, blood glucose, HbA1c values, and measurements of body weight and blood pressure. Clinical features present in all our patients were marked hypotonia and feeding difficulties in infancy, obesity, dysmorphic face, viscous saliva, small hands and feet, intellectual disability and characteristic behaviour. Adrenal function appeared to be normal in all patients; mild hypothyroidism was identified in one patient; sex development abnormalities were present in three patients and GH levels were within lower normal range in all patients. GH therapy was initiated in two patients, both with unevolutive skeletal anomalies, with good results and no side-effects. Only one patient had a normal lipid profile, underlying the importance of early detection and treatment of cardiovascular risk factors. Our study also illustrates the challenges raised by some features very rarely described in PWS (Blount disease and multiple allergies).