Familial hypocalciuric hypercalcaemia type 3: AP2S1 missense mutation

2020 ◽  
Vol 13 (11) ◽  
pp. e236631
Author(s):  
Sarah Kerut ◽  
Karthik Reddy Kovvuru ◽  
Licy Yanes-Cardozo ◽  
Vishnu Vardhan Garla
Keyword(s):  
Vitamin D ◽  
Parathyroid Hormone ◽  
Lumbar Spine ◽  
Parathyroid Tissue ◽  
Dual Energy ◽  
Urinary Calcium ◽  
Urine Collection ◽  
X Ray ◽  
Post Surgery ◽  
Type 3

A 45-year-old man was referred to endocrine for the evaluation of hypercalcaemia. The calcium was elevated, vitamin D was low with a normal parathyroid hormone. Dual-energy X-ray absorptiometry scan revealed osteoporosis at the lumbar spine and femoral neck. A 24-hour urine collection revealed low urinary calcium, which was believed to be secondary to vitamin D deficiency. A diagnosis of primary hyperparathyroidism was made. The patient underwent a four-gland parathyroid exploration surgery in which three of his parathyroid glands were removed. The pathology was consistent with benign parathyroid tissue. Post surgery, the patient had persistently elevated calcium levels. He was then started on bisphosphonate and cinacalcet for osteoporosis and hypercalcaemia, respectively. Genetic analysis of familial hypocalciuric hypercalcaemia (FHH) showed a p.arg15cys mutation in the AP2S1 gene, confirming the diagnosis of FHH type 3.

scholarly journals POS0045 LEAST SIGNIFICANT CHANGE IN BONE DENSITOMETRY IN PATIENTS WITH OBESITY

2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 227.2-228
Author(s):  
D. Claire ◽  
M. Geoffroy ◽  
L. Kanagaratnam ◽  
C. Isabelle ◽  
A. Hittinger ◽  
...  
Keyword(s):  
Bone Mineral Density ◽  
Lumbar Spine ◽  
General Population ◽  
Bone Mineral ◽  
Bone Densitometry ◽  
Dual Energy ◽  
Mineral Density ◽  
Least Significant Change ◽  
X Ray ◽  
Significant Change

Background:Dual energy X-ray absoprtiometry is the reference method to mesure bone mineral density (1). Loss of bone mineral density is significant if it exceeds the least significant change. The threshold value used in general population is 0,03 g/cm2 (2). Patients with obesity are known for having a higher bone mineral density due to metabolism and physiopathology characteristics (3,4).Objectives:The aim of our study was to determine the least significant change in bone densitometry in patients with obesity.Methods:We conducted an interventionnal study in 120 patients with obesity who performed a bone densitometry. We measured twice the bone mineral density at the lumbar spine, the femoral neck and the total hip in the same time (5,6). We determined the least significant change in bone densitometry from each pair of measurements, using the Bland and Altman method. We also determined the least significant change in bone densitometry according to each stage of obesity.Results:The least significant change in bone densitometry in patients with obesity is 0,046g/cm2 at the lumbar spine, 0.069 g/cm2 at the femoral neck and 0.06 g/cm2 at the total hip.Conclusion:The least significant change in bone densitometry in patients with obesity is higher than in general population. These results may improve DXA interpretation in this specific population, and may personnalize their medical care.References:[1]Lees B, Stevenson JC. An evaluation of dual-energy X-ray absorptiometry and comparison with dual-photon absorptiometry. Osteoporos Int. mai 1992;2(3):146-52.[2]Briot K, Roux C, Thomas T, Blain H, Buchon D, Chapurlat R, et al. Actualisation 2018 des recommandations françaises du traitement de l’ostéoporose post-ménopausique. Rev Rhum. oct 2018;85(5):428-40.[3]Shapses SA, Pop LC, Wang Y. Obesity is a concern for bone health with aging. Nutr Res N Y N. mars 2017;39:1-13.[4]Savvidis C, Tournis S, Dede AD. Obesity and bone metabolism. Hormones. juin 2018;17(2):205-17.[5]Roux C, Garnero P, Thomas T, Sabatier J-P, Orcel P, Audran M, et al. Recommendations for monitoring antiresorptive therapies in postmenopausal osteoporosis. Jt Bone Spine Rev Rhum. janv 2005;72(1):26-31.[6]Ravaud P, Reny JL, Giraudeau B, Porcher R, Dougados M, Roux C. Individual smallest detectable difference in bone mineral density measurements. J Bone Miner Res. août 1999;14(8):1449-56.Disclosure of Interests:None declared.

scholarly journals Ability of radiofrequency echographic multispectrometry to identify osteoporosis status in elderly women with type 2 diabetes

2021 ◽  
Author(s):  
Carla Caffarelli ◽  
Maria Dea Tomai Pitinca ◽  
Antonella Al Refaie ◽  
Elena Ceccarelli ◽  
Stefano Gonnelli
Keyword(s):  
Type 2 Diabetes ◽  
Lumbar Spine ◽  
Elderly Women ◽  
Fragility Fractures ◽  
Dual Energy ◽  
Healthy Controls ◽  
Diagnosis Of Osteoporosis ◽  
X Ray ◽  
The Difference

Abstract Background Patients with type 2 diabetes (T2DM) have an increased or normal BMD; however fragility fractures represent one of the most important complications of T2DM. Aims This study aimed to evaluate whether the use of the Radiofrequency Echographic multi spectrometry (REMS) technique may improve the identification of osteoporosis in T2DM patients. Methods In a cohort of 90 consecutive postmenopausal elderly (70.5 ± 7.6 years) women with T2DM and in 90 healthy controls we measured BMD at the lumbar spine (LS-BMD), at femoral neck (FN-BMD) and total hip (TH-BMD) using a dual-energy X-ray absorptiometry device; moreover, REMS scans were also carried out at the same axial sites. Results DXA measurements were all higher in T2DM than in non-T2DM women; instead, all REMS measurements were lower in T2DM than in non T2DM women. Moreover, the percentage of T2DM women classified as “osteoporotic”, on the basis of BMD by REMS was markedly higher with respect to those classified by DXA (47.0% vs 28.0%, respectively). On the contrary, the percentage of T2DM women classified as osteopenic or normal by DXA was higher with respect to that by REMS (48.8% and 23.2% vs 38.6% and 14.5%, respectively). T2DM women with fragility fractures presented lower values of both BMD-LS by DXA and BMD-LS by REMS with respect to those without fractures; however, the difference was significant only for BMD-LS by REMS (p < 0.05). Conclusions Our data suggest that REMS technology may represent a useful approach to enhance the diagnosis of osteoporosis in patients with T2DM.

Degeneration of the lumbar spine and dual-energy X-ray absorptiometry measurements in patients without osteoporosis

2009 ◽  
Vol 33 (5) ◽  
pp. 374-378 ◽  
Author(s):  
Ayce Atalay ◽  
Meral Kozakcioglu ◽  
Rahmi Cubuk ◽  
Nuri Tasali ◽  
Sefik Guney
Keyword(s):  
Lumbar Spine ◽  
Dual Energy ◽  
X Ray

scholarly journals Bone Mineral Density and Testicular Failure: Evidence for a Role of Vitamin D 25-Hydroxylase in Human Testis

Endocrinology ◽  
2011 ◽  
Vol 152 (3) ◽  
pp. 1195-1195
Author(s):  
Carlo Foresta ◽  
Giacomo Strapazzon ◽  
Luca De Toni ◽  
Lisa Perilli ◽  
Antonella Di Mambro ◽  
...  
Keyword(s):  
Vitamin D ◽  
Sertoli Cell ◽  
Dual Energy ◽  
Bone Marker ◽  
Human Testis ◽  
Mineral Density ◽  
Vitamin D Metabolism ◽  
X Ray ◽  
Gene And Protein Expression

Abstract Working Hypothesis: Mutations in the CYP2R1 gene, highly expressed in the testis and encoding vitamin D 25-hydroxylase, result in a vitamin D deficiency and a defective calcium homeostasis leading to rickets. Objective: Our aim was to investigate CYP2R1 expression in pathological testis samples and relate this to vitamin D metabolism in testiculopathic patients. Design, Patients, Setting: Testis samples for in vitro study and 98 young men were transversally evaluated at Padova's Center for Male Gamete Cryopreservation. Methods: CYP2R1 mRNA expression and protein production were evaluated by quantitative RT-PCR, Western blot analysis, and immunofluorescence. Hormonal and bone-marker levels, and bone densitometry by dual-energy x-ray absorptiometry, were determined in patients with Sertoli-cell-only syndrome and severe hypospermatogenesis. Results: We found a lower gene and protein expression of CYP2R1 in samples with hypospermatogenesis and Sertoli-cell-only syndrome (P &lt; 0.05) and a colocalization with INSL-3, a Leydig cell marker, at immunofluorescence. In all testiculopathic patients 25-hydroxyvitamin D levels were significantly lower and PTH levels higher compared to controls (P &lt; 0.05). Furthermore, testiculopathic patients showed osteopenia and osteoporosis despite normal testosterone levels compared with controls both with increased bone-marker levels and altered dual-energy x-ray absorptiometry in the femoral neck and lumbar spine (for all parameters, P &lt; 0.05). Conclusions: Our data show an association between testiculopathy and alteration of the bone status, despite unvaried androgen and estrogen levels and no other evident cause of vitamin D reduction. Further studies in larger cohorts are needed to confirm our results.

Which vertebrae should be assessed using lateral dual-energy X-ray absorptiometry of the lumbar spine

1995 ◽  
Vol 5 (3) ◽  
pp. 196-204 ◽  
Author(s):  
M. Jergas ◽  
M. Breitenseher ◽  
C. -C. Glüer ◽  
D. Black ◽  
P. Lang ◽  
...  
Keyword(s):  
Lumbar Spine ◽  
Dual Energy ◽  
X Ray
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