ESPE Abstracts

Introduction: Gonadal insufficiency is a common long-term endocrinological complication of BMT and is mainly associated with the chemotherapy protocol. In the literature, gonadal insufficiency after BMT varies between 66% -80% in girls and 35-60% in boysAim: to investigate the frequency and the factors affecting gonadal insufficiency in cases with BMT due to non-malignant indications in children or adolescenc...

Beckwith-Wiedemann syndrome (BWS) is a congenital tumor-predisposition syndrome of which around 70% develops because of the methylation defects in the imprinted genes at chromosome 11p15.5. KCNQ1OT1 hypomethylation is the most common underlying genetic aberration in sporadic the BWS, accounting for 50% of the sporadic cases but confers the least tumor risk. We present a 5 month-old girl who presented with an excessive weight gain, cushingoid face, arrested gro...

Background: Osteogenesis imperfecta type XVII (OI17) (MIM#182120) have been described recently due to mutation in secreted protein, acidic, cysteine-rich (SPARC) gene located on 5q33.1.Objective and hypotheses: Here we report a novel mutation in SPARC causing OI17.Case: Two siblings presented to our clinic at the age of 10.3 and 0.5 years old. Parents were consanguineous. The older one was born with birth weight &...

Background: Osteogenesis imperfecta (OI) is a heterogeneous group of brittle bone disease mostly caused by quantative or qualitative defects in type I collagen. In most populations, more than 90% of the patients with OI have dominant mutations in COL1A1 or COL1A2 genes (AD-OI). Less than 10% of the cases have recessive inheritance (AR-OI). Currently 12 genes have been identified as a cause of AR-OI.Objective and hypotheses: We assumed h...

Background: Estimation of the child’s genetic height potential (target height) is an important tool in evaluating growth disorders. Midparental height (MPH) calculated as (Mothers height+Fathers height)/2±6.5 cm), used for this purpose, represents the child’s expected height based on parental heights.Objective and hypotheses: To evaluate the classical MPH calculations for our population and to explore the optimal MPH model using different ...

Background: Short stature (SS) is one of the most frequent reasons for referral to pediatric endocrinology clinics.Objective and hypotheses: We aimed to analyse the etiological factors of SS, in patients of our clinic, who are referred from general paediatrics with high likelihood of endocrinological problems after primary screening.Method: 1519 patients (693F) with height <3% were included. Clinical, anthropometric, radiologic...

Background: We recently identified loss-of-function mutations in makorin ring finger 3 (MKRN3) as a cause of familial central precocious puberty (CPP). Analysis of Mkrn3 expression in the arcuate nucleus of mice showed high expression levels in juvenile mice, with a marked reduction prior to puberty onset, suggesting that MKRN3 inhibits puberty initiation. The function of MKRN3 is not known but based on its amino acid sequence, it is predicted to act as an ubiquitin l...

Background: Hereditary vitamin D-resistant rickets (HVDRR) is a rare disease caused by mutations in vitamin d receptor (VDR). Patients with HVDRR are usually treated with intravenous calcium (i.v.-Ca) therapy via a central catheter. However, central catheter-related complications can cause important morbidity. In this report, we described four patients with HVDRR from different families. In three of these cases we used a novel therapeutic regime of intermittent IV-Ca ...

Context: Type 1A pseudohypoparathyroidism (PHP-1A) is characterized by target organ resistance to PTH and Albright’s hereditary osteodystrophy (AHO). Basal ganglia calcifications and subcutaneous ossifications can be seen in PHP-1A. Acetazolamide, a carbonic anhydrase inhibitor, causes metabolic acidosis by increasing bicarbonate excretion from the proximal renal tubule thereby diminish precipitation of calcium and phosphorus. Acetazolamide had been used ...

Context: Steroid 17α-hydroxylase/17,20-lyase deficiency (17OHD) is characterized by decreased sex steroids and cortisol, and excessive mineralocorticoid action. The clinical symptoms of hypocortisolemia are subtle.Aim: The clinical, biochemical, and molecular characteristics of patients with 17OHD were evaluated to determine the factors influencing the time of diagnosis and the management.Pati...