Abstract:Despite increased BMD, prevalence of vertebral-fractures is greater in patients with IH, especially in postmenopausal women and those on anticonvulsant therapy.
“…Our patients were operated on at different places by different surgeons, which could have contributed to the high rate of hypoparathyroidism. The median age of presentation of PHPT and SIHP was similar to other published reports from India . PHPT is reported to be more common in females; however, our data pertain to male subjects only, precluding any comparison .…”
Section: Discussionsupporting
confidence: 88%
“…Previous published reports from major academic institutes show data pertaining to a few hundred patients with parathyroid disorders over a long‐term follow‐up . This suggests the presence of a huge burden of undiagnosed disease in the community, and there is an urgent requirement of identifying them to prevent morbidity and mortality.…”
Our cohort had a low incidence of PHPT when compared to Western populations. Long-term epidemiological studies are essential to identify the demographic trends of metabolic bone disorders in India.
“…Our patients were operated on at different places by different surgeons, which could have contributed to the high rate of hypoparathyroidism. The median age of presentation of PHPT and SIHP was similar to other published reports from India . PHPT is reported to be more common in females; however, our data pertain to male subjects only, precluding any comparison .…”
Section: Discussionsupporting
confidence: 88%
“…Previous published reports from major academic institutes show data pertaining to a few hundred patients with parathyroid disorders over a long‐term follow‐up . This suggests the presence of a huge burden of undiagnosed disease in the community, and there is an urgent requirement of identifying them to prevent morbidity and mortality.…”
Our cohort had a low incidence of PHPT when compared to Western populations. Long-term epidemiological studies are essential to identify the demographic trends of metabolic bone disorders in India.
“…The risk of fractures, in general, has been described as comparable to that in control populations (34,145). A pioneer prospective study with radiological assessment of vertebral fractures has shown increased morphometric fractures in women with postsurgical hypoparathyroidism (B) (153), a finding confirmed by other authors (154). Monitoring of bone mass using dual-energy X-ray absorptiometry (DXA) has little value during long-term follow-up of patients with hypoparathyroidism, noting that the BMD tends to increase with the duration of the disease (155).…”
Objective To present an update on the diagnosis and treatment of hypoparathyroidism based on the most recent scientific evidence. Materials and methods The Department of Bone and Mineral Metabolism of the Sociedade Brasileira de Endocrinologia e Metabologia (SBEM; Brazilian Society of Endocrinology and Metabolism) was invited to prepare a document following the rules set by the Guidelines Program of the Associação Médica Brasileira (AMB; Brazilian Medical Association). Relevant papers were retrieved from the databases MEDLINE/PubMed, LILACS, and SciELO, and the evidence derived from each article was classified into recommendation levels according to scientific strength and study type. Conclusion An update on the recent scientific literature addressing hypoparathyroidism is presented to serve as a basis for the diagnosis and treatment of this condition in Brazil.
“…It is well known that primary hyperparathyroidism causes increased bone turnover and reduced BMD, especially at the cortical bone . On the contrary, idiopathic hypoparathyroidism (IHP) cases often have reduced bone turnover and increased BMD, mainly at the trabecular, than the general population . Compared with IHP and non‐surgical hypoparathyroidism patients, PHP subjects, especially pseudohypoparathyroidism type 1b (PHP1B), tend to have lower BMD, indicating incomplete skeletal resistance to PTH may exist .…”
XLαs, the extra-large isoform of alpha-subunit of the stimulatory guanine nucleotidebinding protein (Gsα), is paternally expressed. The significance of XLαs in humans remains largely unknown. Here, we report a patient who presented with increased bone mass, hypophosphatemia, and elevated parathyroid hormone (PTH) levels. His serum calcium was in the lower limit of the normal range. Whole exome sequencing of this subject found a novel non-sense variant c.424G>T (p. G142*) in the first exon of XLαs, which was inherited from his father and transmitted to his daughter. This variant was predicted to exclusively influence the expression of XLαs, while possibly having no significant effects on other gene products of this locus. Ellsworth-Howard test revealed normal renal response to PTH in proband. Human SaOS2 cells transfected with mutant XLαs failed to generate cyclic adenosine monophosphate under PTH stimulation, indicating skeletal resistance to this hormone. This subject showed higher circulating sclerostin, dickkopf1, and osteoprotegerin (OPG) levels, while lower receptor activator of nuclear factor kappa-B ligand/OPG ratio, leading to reduced bone resorption. Our findings indicate that XLαs plays a critical role in bone metabolism and GNAS locus should be considered as a candidate gene for high bone mass. K E Y W O R D S hypophosphatemia, osteopetrosis, parathyroid hormone, pseudohypoparathyroidism, XLαs
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