ESPE Abstracts

Background: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.Patients and methods: We studied a cohort of multiplex families with GHS through autozygosity mapping and whole exome sequencing.Results: We identified patients from three independent families carrying loss-...

Background: Hereditary 1,25-dihydroxyvitamin D resistant rickets (HVDRR) caused by vitamin D defective receptor.Objective and hypotheses: We performed VDR gene analysis four patients with alopecia, skeletal dysplasia, and hypocalcaemia.Method: Genomic DNA extracted from peripheric blood. Whole gene sequence analysis was performed.Results: We found homozigot p.Q152* (c.454G>T) mutation three patients. Two ...

Background: Early tooth loss could be the consequence of the local or systemic diseases. We present an odontohypophosphatasia case with otosomal dominant mutation in ALPL gene.Objective and hypotheses: We report a case with odontohypophosphatasia and his family investigation.Method: Three-years-old boy admitted to our pediatric endocrinology clinic with toothloss without any other dental or gingival disease. His serum levels calciu...

Background: It is not an uncommon situation that newborns have normal serum Ca, P, Mg, ALP, and PTH levels despite low vitamin D. Serum vitamin D binding protein (VDBG) may play a role for this situation. However, there is no any study investigated the relationship between serum vitamin D and VDBP in postnatal period.Objective and hypotheses: The aim of this study is to examine the relationship between serum vitamin D level and VDBP in neonates who have ...

Background: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by reduced sensitivity of target tissues to thyroid hormone.Objective and hypotheses: We describe the clinical, biochemical data and mutation analysis of two patients and their families with (RTH).Method: We conducted clinical studies and genetic analysis of these two patients and their families.Results: First patient refer...

Background: Wolcott-Rallison syndrome (WRS) is a rare, autosomal recessive disease and characterized by early-onset diabetes, spondyloepiphyseal dysplasia, short stature, osteopenia, acute liver failure, and neurological deficit. It results from mutation in a gene of the eukaryotic translation initiation factor 2-α kinase 3 (EIF2AK3).Objective and hypotheses: We report two WRS patients diagnosed in infantile period.Me...

Background: Vitamin D, mainly important in calcium phosphate homeostasis and bone health, has been recently suggested as an important factor in pathogenesis of numerous chronic conditions such as type 2 diabetes, metabolic syndrome and polycystic ovarian syndrome (PCOS).Objective and hypotheses: The aim of this study is to investigate the relation between PCOS and premature adrenarche (PA), suggested as predictor of PCOS.Method: A ...

Introduction: Vitamin D-dependent rickets (VDDR) describes a group of genetic disorders characterized by early-onset rickets that develops due to insufficient concentration of active forms of vitamin-D or unresponsiveness to active vitamin D. The aim of this study was to share the clinical features and long-term outcome of cases followed up in our center with the diagnosis of either VDDR-Type-1 and VDDR-Type-2.Method: Pr...

Background: Neonatal vitamin D deficiency (VDD) can result in symptomatic hypocalcemia, seizures and cardiomyopathy and has been associated with reduced bone mineralization in childhood, but is potentially preventable with antenatal cholecalciferol supplementation. Single nucleotide polymorphisms (SNP) in the vitamin D metabolism pathway are associated with serum 25-hydroxyvitamin D [25(OH)D] in adulthood. We assessed whether maternal and/or offspring SNPs in ...

Newer studies have indicated that vitamin D has more widespread effects than the classical effects on bone and calcium-phosphate homeostasis. The presence of the vitamin D receptor (VDR) in the testis and male reproductive tract indicates a role for vitamin D in male reproduction. Indeed, vitamin D deficiency and global knock out models of VDR or CYP27B1 in rodents have shown that vitamin D and calcium are important regulators of male reproductive function. Several groups have...