ESPE Abstracts

Background: Hypophosphatemic rickets (HR) stands for a heterogenous group of rare disorders in which excessive renal phosphate wasting is observed. The main characteristics of X-linked HR (XLHR) (OMIM #307800) caused by mutation in PHEX (phosphate-regulating endopeptidase) gene (OMIM *300550) include bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. The patie...

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by an excessive renal phosphate wasting. X-linked HR (XLHR) is caused by mutation in PHEX (phosphate-regulating endopeptidase) gene and is characterized mainly by bone deformities, disproportionately short stature, dental anomalies and hypophosphatemia with coexisting low renal phosphate reabsorption. Early treatment with vitamin D and phosphate improves the patient’s growth. Recombinan...

Background: Hypothalamic obesity is a form of obesity syndrome associated with a variety of hypothalamic disorders including intracranial tumors, infections, trauma, vascular problems and hydrocephalus and acquired or congenital functional defects in central energy homeostasis. The pathogenetic mechanisms underlying hypothalamic obesity are multifactorial. Weight gain results from the hypothalamus damage, which leads to excessive apetite and low metabolic rate, multiple pituit...

Introduction: The tricho-rhino-phalangeal syndrome type 1 (TRPS 1), also known as Langer-Giedion syndrome, is an uncommon genetic disorder. This disease is characterized by short stature, cone-shaped ends of the long bones (epiphyses), and distinctive facial features linked to skeletal abnormalities since early childhood. The experience with recombinant growth hormone (rGH) therapy in TRPS 1 is relatively poor. The aim of the study is to present the results of...

Background: Ovarian dysfunction is one of the most common features of Turner syndrome (TS). Oocyte apoptosis is accelerated from early fetal life, more typical for 45,X karyotype. Hypergonadotropic hypogonadism (HH) is characteristic manifestation of dysgenetic ovaries, and estrogen replacement therapy (ERT) is standard for delayed puberty. Development of ovarian follicles is largely under FSH control, and possible ovarian hyperstimulation of elevated FSH in T...

Background: Central diabetes insipidus (CDI) is a rare disorder in the pediatric population. CDI may be the first symptom of a brain tumor, metastatic lesions, or granulomas. The close follow-up of patients with CDI may early detect pathologic processes, especially intracranial tumors.Methods: We present four pediatric patients diagnosed with CDI of different etiology.Pat...

Background: Turner syndrome (TS) is one of the most common chromosomal aberrations resulting from the total or partial absence of one of the X chromosomes in all or a portion of cells. The presence of genetic material of the Y chromosome in TS patients is a risk factor for the development of gonadoblastoma or dysgerminoma.Objective and hypotheses: The aim of this study was to detect the presence of fragments of the Y chromosome, which increase the risk o...

Background: X-linked AHC is a rare disorder of the adrenal cortex caused by mutations in the NR0B1 (DAX1) gene. NR0B1 (DAX1) encodes for an orphan nuclear hormone receptor which is expressed in the adrenal, gonad, hypothalamus, and pituitary glands. Hypogonadotropic hypogonadism (HH) is the most frequently observed puberty disorder (absent or delayed puberty) caused by mutations in the NR0B1 (DAX1) gene and is due to impaired gonadotropin synthesis a...

Background: Hypophosphatemic rickets (HR) is a group of rare disorders caused by excessive renal phosphate wasting. The dominant form of HR is X-linked HR (XLHR) caused by mutation in the phosphate-regulating endopeptidase gene PHEX. There is also autosomal dominant form of HR caused by mutation in FGF23 gene or rare autosomal recessive form caused by DMP1 mutation. The phenotype can vary from very delicate to severe bone disease.<p class="abstex...

The Loeys-Dietz syndrome (LDS) is a genetic heterogeneous, autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. We present a 16.5-year-old girl with LDS2 caused by a mutation c.1582C>T (p.R5228C) in the TGFBR2 gene and treated with recombinant growth hormone (rGH) du...