ESPE Abstracts

Background: Liquid chromatography-mass spectrometry (LC-MS) based panels of steroid hormones and their precursors offer a distinct pattern of steroid metabolome for various disorders of adrenal and gonadal steroidogenesis. However, it may not be easy to handle this high throughput data rapidly in clinical setting which requires expert opinion for correct interpretations. Analytical results of steroid panelling can be allied to automated review systems to simpl...

Background: Vitamin D Dependent Rickets Type IA (VDDR-IA) is the most common type of VDDR and caused by mutations in CYP27B1. Here, we aimed to analyze the genotypic and phenotypic features of our VDDR-IA patients.Materials and Methods: The patients with a clinical diagnosis of VDDR-IA were enrolled and analyzed for CYP27B1 gene mutations.Results: 12 (5 males) pat...

Central precocious puberty (CPP) in girls is a diagnosis increasingly made by the Pediatric Endocrinologists worldwide. Although it is most frequently of idiopathic origin, magnetic resonance imaging (MRI) of the brain is recommended to rule out organic lesions causing CPP. However, controversy exists regarding the age limits for routinely performing MRI in girls with CPP.Objective: To evaluate the outcome of brain MRI in girls diagnosed...

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: Although motor performance is often impaired in patients with Turner syndrome, the exact prevalence of motor problems is unknown. Detailed studies on specific motor profiles are lacking and the exact relationship between performal IQ and motor function is unknown.Aims and objectives: 1. To describe motor performance in our population of children and adolescents with Turner syndrome including the differentiation in specific motor skill domains...

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 ...

Introduction: X-linked adrenoleukodystrophy (X-ALD) is an inherited peroxisomal disease characterized by beta oxidation disorder that causes the accumulation of very long chain fatty acids (VLCFA) in all tissues. It presents with clinical signs due to accumulation of VLCFA in brain white matter, testes, adrenal cortex and skin fibroblasts. Here, we will present a case applied to the outpatient clinic due to not going through puberty period and who was diagnose...

Aim: Quail egg (QE) consumption became popular among children for alleged health benefits. Based on our observation of premature thelarche (PT) in a few children who consumed QE, we investigated the relationship between QE and puberty by a clinical and an experimental studies.Method: In the clinical study, a questionaire was used to compare the frequency and amount of QE consumption (between 55 girls with PT (n ...

Background: Osteogenesis imperfecta (OI) is characterized by low bone mass and bone fragility mainly due to COL1A1/COL1A2 gene defects. However, >17 genes have been identified in the pathogenesis of OI. Here, we aim to characterize genotypic spectrum of our OI cohort.Methods: Forty-nine OI patients (28 males) from 38 different families (13 consanguineous/9 multiplex) were screened with the next-gene...

Background: Hypergonadotropic hypogonadism(HH) in females results from primary gonadal failure related to genetic defects affecting ovarian development and function or acquired gonadal damage; limited knowledge exist regarding underlying genes involved or potential gene X environment interactions responsible for disease trait manifestations. While pathogenic variants in single genes, chromosomal abnormalities such as Turner syndrome and acquired gonadal damage...