ESPE Abstracts

Background: In the vast majority of cases, achondroplasia and hypochondroplasia are attributable to hotspot missense mutations in the FGFR3 gene. 96% of patients have a G(1138)A and 3% have a G(1138)C point mutation. We report on a family whose members have a deep intronic mutation that leads to a novel cryptic splicing variant of the FGFR3 gene, and via this pathway results in new pathogenicity manifesting as achondroplasia.Case...

Background: SWEET (www.sweet-project.eu) is a non-profit entity endorsed by ISPAD aiming to create an extensive network of certified CoRs for childhood diabetes in order to ensure high quality care.Objective and hypotheses: SWEET aims at an improved and more uniform care for people with diabetes through comparing processes and outcomes among participating members. The results of data analysis are conveyed to memb...

Background: More than 20 gene loci are known to cause monogenic neonatal diabetes today. A definite mutation can be found in 65–70% of all cases. Mutations in the ATP sensitive potassium channel can frequently be treated by sulfonylurea. Glibenclamide is on of the drugs known to inhibit the bile salt export pump (BSEP). However most drug induced cholestasis cases are reported in adults.Objective and hypotheses: Glibenclamide is used frequently to tr...

Introduction: 46,XY disorder of sexual development can cause clinical spectrum varying from complete female phenotype to isolated micropenis. However, the most common reasons are androgen synthesis and resistance, choromosome abnormalities, testicular dysgenesis, steroid synthesis defects, it is usually idiopathic. The accurate and differential diagnosis is crucial in respect of treatment, monitoring, sex determination, surgical correction. Moreover, it sometimes can be medica...

Hypophosphatasia (HPP) is a rare, inherited, systemic disease caused by mutation(s) of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP), resulting in deficient ALP activity. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset HPP. The global HPP Registry is an observational, prospective, multinational study (NCT02306720; EUPAS13514) established to collect real world clinical data from patients of a...

Central precocious puberty (CPP) may be secondary to congenital adrenal hyperplasia (CAH), due to 21-hydroxylase deficiency. CPP in CAH may be associated with elevated sex-steroid levels and possibly a decline in negative sex-steroid feedback after treatment initiation. We experienced the two family cases of the salt-wasting form of the CAH, complicated by CPP with early maturation of the hypothalamic-pituitary-gonadal axis in all patients from two families.<p class="abste...

Aim: The 45,X/46,XY karyotype is rare with an estimated incidence rate of less than 1/15.000 live births. It represents from Turner females to phenotypically normal males with varying degrees of genital ambiguity. Although, high gonadotropin levels have been described in 0–5 years old girls with Turner syndrome, high FSH level is not well known finding in prepubertal girls older than 6 years.Case: A 6 y 8 m girl presented with lipomastia. She was bo...

Background: Congenital hypopituitarism (CH) in the neonate which manifests as the deficiency of one or more pituitary hormones can be presented by a highly variable phenotype. Either as isolated hypopituitarism or with associated developmental defects such as ocular, midline, and genital abnormalities. Mutations in genes encoding for a number of transcription factors have been described in a minority of patients with CH. This indicats that further genes remain to be identified...

Background: Obesity is increasing worldwide among adults, children and adolescents. The increase in obesity rates facilitated the development of several morbidities including impairment in glucose homeostasis. T2DM is described mainly among minority groups, and in Israel it is more frequent among the Arab population.Objective and hypotheses: We hypothesized that a correlation exists between the degree of obesity and impaired glucose homeostasis among Ara...

Introduction: Kisspeptin is well known gatekeeper of puberty onset to date. However, several neuroendocrine factors are also discovered to be associated with puberty onset and, especially neuropeptide Y (NPY) and neurokinin B, participate in the neuronal network integrating reproduction. However, the interactions between neuroendocrine factors and the reproductive axis have not yet been fully explored. We report herein the expression profile of NPY gene and neurokinin B gene i...