ESPE Abstracts

Background: Hereditary hypophosphatemic rickets with hypercalciuria(HHRH; OMIM: 241530) is a rare autosomal recessive disorder,which is the result of loss-of-function mutations in the sodium-phosphate-cotransporter NPT2c.This disorder is characterized by renal phosphate(Pi) wasting,hypercalciuria,increased 1,25 (OH)2-D levels and decreased parathormone(PTH) levels.Here we report the clinical features of two siblings with HHRH,confirmed with molecula...

Objective: There have been very few studies, with contradictory results, on the serum trace elements in children and adolescents presenting with diabetic ketosis and diabetic ketoacidosis due to type-1 diabetes mellitus. The objective of this longitudinal controlled study was to determine serum trace element status including selenium (Se), zinc (Zn), copper (Cu), manganese (Mn), chrome (Cr), and cobalt (Co) in type-1 diabetic children and adolescents presenting with diabetic k...

Introduction: Neonatal diabetes mellitus (NDM) is a monogenic form of diabetes that occurs in the first 6 months of age. It is a rare condition occurring in only one in 100 000–300 000 live births. Clinically, NDM subgroups include transient (TNDM) and permanent NDM (PNDM). TNDM is most frequently caused by abnormalities in the imprinted region of chromosome 6q24.Case Report: A 18-day-old male was referred from another clinic due to diabetic ketoaci...

Introduction: Complete androgen insensitivity syndrome (CAIS) is a sexual development disorder due to mutations that cause function loss in androgen receptors in 46, XY individuals. The risk of malignancy development until the age of 25 years in CAIS is 5–10%. We present a CAIS case where a Sertoli cell tumour was found, together with the USG and MR findings.Case: A 17-year-old female presented to our department complaining of amenorrhoea. She had a...

Objective: AMH decreases by 30% in the first two years following puberty. Although it is known that AMH is associated with FSH and LH, the AMH response to rapid changes in GnRH is not known clearly in puberty. It has been shown that AMH levels in central precocious puberty (CPP) are lower than in premature thelarche (PT), but the levels of AMH in peripheral precocious puberty (PPP) have not been evaluated. The aim of this study was to evaluate the basal an...

Introduction: DICER1 syndrome is a pleotropic, autosomal dominant familial genetic tumor predisposition syndrome. DICER1 somatic + germ-line mutations (double hit hypothesis); cystic nephroma; pleuropulmonerblastoma, ovarian sex cord-stromal tumors, multinodular goitre (MNG) are associated with many conditions such as differentiated thyroid cancer, pituitary blastoma. We presented three cases, two of whom were siblings, who had been consulted because of no...

Aim: Recent studies have shown that the first hour glucose concentration of ≥155 mg / dL in the oral glucose tolerance test (OGTT) in adults with normal glucose tolerance (NGT) may be a strong marker for the development of diabetes, and also an increase in subclinical inflammation, insulin resistance, dyslipidemia and serum transaminases. These results indicate that adults with NGT have increased risk of developing cardiovascular disease and non-alcoholi...

Introduction: Growth hormone therapy (GHT); have been used in rare diseases such as growth hormone deficiency (GHD), panhipopituitarism (PHP), intrauterine growth retardation (IUGR), Turner Syndrome(TS) for many years while the effects of diagnostic timing on the treatment results are known. However,data on the diagnosis and treatment processes of these diseases are limited in our country. The aim of this study was to evaluate the results of diagnosis, follow-...

Background: Hypophosphatasia (HPP) is a rare metabolic bone disease caused by loss-of-function mutations in the gene ALPL encoding the tissue nonspecific alkaline phosphatase. HPP is associated with significant morbidity and mortality in pediatric patients, with high rates as high as %100 in perinatal-onset HPP. Serum alkaline phosphatase (ALP) activity is markedly reduced, which leads to increased serum/urine phosphoethanolamine (PEA), pyridoxal-5’phosphate (PLP). Asfota...

Background: GnRH agonists, leuprolide acetate (LA) and triptorelin acetate (TA), have been widely used in the treatment of central precocious puberty (CPP). But, a comparative data on the effectiveness of these two drugs for CPP treatment is very scarce.Objective: To compare the efficacies of TA and LA treatments in girls with idiopathic CPP.Patients and Methods: Sixty girls with rapidly progressive CPP treated with LA (n=...