ESPE Abstracts

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...

Introduction: Disorders of sex development (DSD) constitute a group of congenital conditions that affect urogenital differentiation and are associated with chromosomal, gonadal and phenotypic sex abnormalities.Objective: To evaluate clinical and genetic features of childhood DSD cases.Materials and Methods: DSD patients followed up between the years of 1981-2018 were evaluated in t...

Background: Ectopic posterior pituitary gland (EPP) is characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain.Objective and hypotheses: The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP.Method: In the Endocrinol...

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...

Keywords: children, primary osteoporosis, next-generation sequencingBackground: Primary osteoporosis (POP) is a rare bone fragility disorder of childhood and is mainly related to osteogenesis imperfecta (OI). However, patients without clinical OI features with recurrent long bone and/or vertebral fractures who comply with the osteoporosis criteria are considered to have non-OI POP. Diagnosis and classification of non-OI ...

Background: Obesity in adulthood is associated with shorter leukocyte telomere length, a marker of biological age that is also associated with age-related disorders, including cardiovascular disease and type 2 diabetes mellitus.Objective and Hypotheses: To investigate the relation between BMI in childhood and adolescence and telomere length, by determining the mean telomere length of leukocytes.Patients and Method: Seven hundred fo...

Background: Thyroid cancer before 20 years of age constitutes less than 2% of thyroid malignancies. Adult guidelines have been used in evaluation and follow-up of children until 2015. Features and long-term results of more children with PTC are needed to improve the ATA guideline for children. The aim of this study is to evaluate children with PTC in the last 15 years in a single reference-center, and assess the convenience of ATA 2015 guideline in practice.</...

Background: Based on growth screening rules, severe short stature (i.e. height SDS less than -3), at the age of more than 3 years, warrants diagnostic evaluation in specialized health care. In the absence of apparent underlying cause, targeted and eventually untargeted genetic studies have been proposed. However, the etiology of short stature at the severe end of the spectrum is poorly characterized.Methods: We ...

Background: Single nucleotide polymorphisms (SNPs) related to genes encoding the FSHβ subunit and FSH receptor (FSHB/FSHR) affect FSH production (FSHB c.-211G>T) and receptor sensitivity/expression in vitro (FSHR c.2039A>G & FSHR c.-29G>A). FSHR c.2039A>G, but not FSHR c.-29G>A, is associated with increased FSH levels in adult women, while there are conflicting results on F...

Background: The anogenital distance (AGD) is defined as the distance from the anus to genital tubercle. AGD is an established method for sex determination of pups in rodents, and in animal studies, AGD is strongly affected by androgen exposure during fetal life. In accordance, human studies have reported reduced postnatal AGD following prenatal exposure to anti-androgenic agents, suggesting AGD to be a sensitive postnatal read out of in utero exposure...