Endocrine Abstracts

Hypophosphatasia (HPP) is a rare inborn metabolic disorder due to ALPL gene (1p36.12) mutations leading to deficient activity of the Tissue Non-Specific Alkaline Phosphatase (TNSALP), a homodimeric cell surface phosphohydrolase expressed in multiple tissues. Autosomal recessive or dominant inheritance of more than 300 different loss-of-function mutations cause accumulation of TNSALP substrates, including inorganic pyrophosphate (PPi), a potent inhibitor of mineralization, Pyri...

Mesenchymal Stem Cells (MSC) are the source of regeneration of musculoskeletal tissues. Stem cells (SC) are rare and slowly dividing cells, situated in stem cell niches, regulated by non-stem-cell cap cells. Rare symmetric SC division regulates the SC pool. Asymmetric cell division gives rise to a transient amplifying pool (MSCTAP). The MSC niche is poorly characterized in contrast to MSCTAP and consecutive events of fate decision, commitment and secretio...

Introduction: Osteoporosis in males is an underdiagnosed condition. It is considered to be of secondary pathogenesis in up to 60% of cases. In order to establish rational flow charts for the diagnosis and management of osteoporosis in men solid data seem to be necessary about the incidence of certain underlying diseases.Methods: In a prospective screening for hormonal alterations we analysed 65 patients with male osteoporosis according to laboratory para...

UO-44 is a novel protein of unknown function which was described in uterus, medium-size ovarian follicles, oviduct and pancreas of different mammalian species. Using differential display analysis in preimplantation rat uteri, Chen et al. 1999 cloned and described it as an estradiol responsive gene named estrogen regulated gene 1 (ERG-1). Subsequent characterization showed that its expression was modified through pregnancy. The human ortholog (HuUO-44) was cloned and cha...

Hypophosphatasia (HPP) is a rare, inherited, metabolic disorder caused by deficient tissue-nonspecific alkaline phosphatase activity. A heterogeneous presentation in adults includes musculoskeletal symptoms, impaired physical function, and reduced health-related quality of life (HRQoL). Asfotase alfa is the only approved treatment for pediatric-onset HPP. We evaluated, in a real-world setting, the long-term effectiveness of asfotase alfa on physical function and HRQoL among ad...

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by deficient activity of tissue nonspecific alkaline phosphatase (TNSALP).Methods: Baseline/pretreatment data from the Global HPP Registry were analyzed to compare HPP disease burden between adults (≥18 years of age) with skeletal manifestations (history of rickets, biopsy-proven osteomalacia, recurrent or poorly healing fractures/pseudofractures, etc; Skeletal group) ...