IMPE Abstracts

Objective: The growth plate is the metabolically highly active cartilage portion of the bone where linear growth takes place. Chondrocytes in this region are affected by many hormones and local factors in the process of proliferation, maturation, hypertrophy, extracellular vesicle release and cell death. Melatonin, one of these factors, affects blastic activity, proliferation and mineralization in a circadian rhythm through its receptors in cartilage. In the g...

Background: Transgender and gender-diverse (TGD) individuals are exposed to many factors which have the potential to affect their bone mineral density (BMD). Among these factors are eating habits, exercise, calcium and vitamin D intake. Moreover, as these individuals are children and adolescents, who have not accomplished peak bone mass (PBM) yet. This fact raises the question of whether TGD youth should have routine bone health assessment.<p class="abstex...

X-linked hypophosphatemia (XLH) caused by phosphate regulating endopeptidase X-linked (PHEX) gene defects is a rare disorder affecting 1 in 20,000 individuals. Loss of PHEX function results in renal phosphate wasting with hypophosphatemia via increased serum FGF23. Clinical features in XLH are growth delay, rickets, limb deformities, and bone pain. Burosumab, a monoclonal antibody against FGF23, had slightly improved height Z-score and radiographical findings in sever...

Introduction: NSHPT is a rare, autosomal recessive inherited, disorder of CASR gene presenting as severe hypercalcemia early in life. Diagnosis requires a high index of suspicion. Intensive medical management with calcium lowering drugs should be tried prior to parathyroidectomy.Aims: To study the clinical-laboratory-genetic profile, management and short-term outcome of children with NSHPT diagnosed at our center in the ...

Background: 2q37 deletion syndrome is a rare chromosomal abnormality (OMIM #600430) also called brachydactyly mental retardation syndrome (BDMR), or Albright Hereditary Osteodystrophy-like syndrome (AHO). It is characterized by a wide spectrum of clinical findings including mild to moderate psychomotor developmental delay/intellectual disability, brachydactyly type E, short stature, obesity, hypotonia, characteristic facial dysmorphism, hypermobility /joint di...

Background: Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare skeletal disorder commonly caused by MAFB gene mutation. It is characterized by aggressive carpo tarsal osteolysis frequently associated with progressive nephropathy. MAFB negative regulates receptor activator of nuclear factor κB ligand - (RANKL) mediated osteoclast differentiation.Problem: The diagnosis and treatment of MCTO represents a ch...

Background and object: C-type natriuretic peptide (CNP) and its receptor Atrial natriuretic peptide receptor 2 (NPR2) are expressed in the hypertrophic region of the growth plate and are major regulators of endochondral ossification. CNP-NPR2 stimulates the synthesis of chondrocytes and cartilage matrix and promotes growth plate development. Heterozygous loss-of-function variants in NPR2 gene cause short stature with nonspecific skeletal abnormalities (OMIM#61...

Bruck's Syndrome was first described in 1897 by Alfred Bruck, with an autosomal recessive inheritance, resulting from the FKBP10 mutation that courses with conditions of different severity. The prevalence is less than 1/1,000,000, with less than 40 cases described in the literature. This mutation generates a loss in the function of the FKBP65 protein, which generates effects such as a delay in the secretion of type 1 procollagen, and a decrease in the formation of intermo...

Introduction: Cutaneous skeletal hypophosphatemia syndrome (CSHS) is a mosaic RASopathy caused by postzygotic activating mutations in HRAS, NRAS or KRAS. It is characterised by the presence of congenital epidermal, melanocytic, or sebaceous nevi, elevated circulating FGF23 levels that causes renal phosphate wasting and rickets, skeletal hypomineralization and focal bone lesions ipsilateral to nevi.Clinical Case: We repor...

Objectives: KCNK16 gene encodes the two-pore-domain K+ channel, TALK-1, which is expressed on both the β-cell plasma membrane and the ER membrane. The KCNK16-containing locus is strongly associated with type 2 diabetes mellitus in multiple genome-wide association studies in the general population. Its mutation inducing a gain of function in TALK-1 has been recently reported to cause MODY. No case of KCNK16-MODY has been reported to date besides the family...