ESPE Abstracts

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...

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 ...

Background: RASopathies are a group of diseases with common clinical features that occur as a result of pathogenic variants in genes encoding components of the RAS/MAPK pathway. The aim of this study was to evaluate the clinical and molecular features of RASopathy cases in our pediatric endocrinology unit.Subjects and Methods: The clinical and molecular data of 42 patients (18 girls) from 39 families were evaluated, retr...

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...

Background: Raine Syndrome (RS) is characterized by hypophosphatemia and typical facial dysmorphic features. Subperiostal thickening and diffuse generalized osteosclerosis are the most common radiological findings. Biallelic loss of function mutations in FAM20Cgene cause RS and by reduction of the transcription of DMP1 leads to FGF23-related hypophosphatemia. Here we present a new case with RS.Case: A 9-month-ol...

Objectives: Forkhead box A2 (Foxa2) is a transcription factor that plays a key role in foregut, pancreatic and central nervous system development. Here, we describe a 7 years old boy whose phenotype is consistent with FOXA2 defect.Case: A 3 months old boy was referred for recurrent hypoglycemic events. He was born to unrelated parents at term with a birth weight of 3690 gr. At 6 hours of life he had severe hypoglycemia (...

Background: Congenital lactase deficiency (CLD) occurs as a result of loss of function of intestinal lactase-phlorizin hydrolase (LPH) encoded by LCT gene. Patients usually present with osmotic diarrhea in the first few days of life. Although the exact mechanism is not known, hypercalcemia is a common feature of CLD; with calcium levels up to 14 mg/dl and nephrocalcinosis have been reported. However, CLD is frequently overlooked in the differential diagnosis o...

Context: PPP2R3C encodes the B”gamma regulatory subunit of the protein phosphatase 2A (PP2A), which is a serine/threonine phosphatase involved in the phospho-regulation processes of mammalian cells. We have recently reported homozygous and heterozygous mutations in PPP2R3C in patients with syndromic 46,XY complete gonadal dysgenesis (MEGD syndrome) and impaired spermatogenesis, respectively. In this study, we have further investigated th...

Background: Next-generation sequencing (NGS) technologies have improved our knowledge about the genetic basis of congenital hypothyroidism (CH). The objective of our study was to evaluate the molecular genetic etiology in our primary CH cohort by using the NGS-based panel.Subjects and Methods: The clinical and genetic characteristics of 147 patients (61 female) from 129 unrelated families were evaluated. The patients wer...